André Reis
Reproducibility track record
1
assessed papers
96/100
mean reproducibility
1
reproduced (C1–C2)
0
flagged
0
total citations
flag rate:
0%
(0/1)
The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.
Authorship role
first author: 0
last author: 0
Topics
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Funders
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Frequent co-authors
Sabine Endele 1Lionel Van Maldergem 1Bernhard Zabel 1Bernt Popp 1Ceyhun Tamer 1Dagmar Wieczorek 1Kerstin Kutsche 1Holger Tönnies 1Fanny Kortüm 1Sarah von Spiczak 1
Institutions
Friedrich-Alexander-Universität Erlangen-Nürnberg 1Universität Hamburg 1University Medical Center Hamburg-Eppendorf 1Technische Universität Darmstadt 1University of Lübeck 1Inserm 1
Geography (author institutions)
DE 1FR 1BE 1
Co-author network
Collaborators, sized by shared output and coloured by their own reproducibility (green = high, red = low). Click a node to open their card. A pattern is a prompt for review, never a determination.
How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.
Assessed papers (1)
Complete publication record (1,022)
Request a reproduction →1 assessed by us (1 reproduced) · 1,021 not yet assessed — every PubMed paper on record, linked below.
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A multi-omics approach to characterize a deep intronic ARID1A deletion in Coffin-Siris syndrome ↗European Journal of Medical Genetics · 2026 · PMID 42173440not yet assessed
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Diagnosing Mendelian Kidney Disease: Hidden Niches in the (Kidney) Genome ↗American Journal of Kidney Diseases · 2026 · PMID 42497974not yet assessed
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Further characterization of the BRSK2-associated neurodevelopmental disorder ↗European Journal of Human Genetics · 2026 · PMID 42509346not yet assessed
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Further characterization of the BRSK2-associated neurodevelopmental disorder. ↗Open Access CRIS of the University of Bern · 2026not yet assessed
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GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets ↗Nature Communications · 2025 · PMID 40021644not yet assessed
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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption ↗Nature Genetics · 2025 · PMID 40379786not yet assessed
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A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation ↗Life Science Alliance · 2025 · PMID 40155049not yet assessed
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Expanding the Genetic and Phenotypic Spectrum of <scp> <i>POLRMT</i> </scp> ‐Related Mitochondrial Disease ↗Clinical Genetics · 2025 · PMID 40583167not yet assessed
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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization ↗European Journal of Human Genetics · 2025 · PMID 40562808not yet assessed
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The genetics of intelligence ↗Deutsches Ärzteblatt international · 2025 · PMID 39635948not yet assessed
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Limited association between <scp>HRR</scp> gene alterations and <scp>HRD</scp> in molecular tumor board cancer samples: Who should be tested for <scp>HRD</scp>? ↗International Journal of Cancer · 2025 · PMID 40278800not yet assessed
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A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes ↗Molecular Cytogenetics · 2025 · PMID 40702521not yet assessed
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Junge Frau mit multiplen Raumforderungen beider Ovarien ↗Die Gynäkologie · 2025not yet assessed
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Awarding of the GfH Medal of Honor 2025 to Prof. Dr. med. Stefan Mundlos ↗Medizinische Genetik · 2025 · PMID 40687884not yet assessed
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Genetic liability to psoriasis predicts severe disease outcomes ↗Genome Medicine · 2025 · PMID 41408349not yet assessed
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Long-term outcomes of patients with IgA nephropathy in the German CKD cohort ↗Clinical Kidney Journal · 2024 · PMID 39149090not yet assessed
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MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature ↗The American Journal of Human Genetics · 2024 · PMID 38815585not yet assessed
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Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder ↗European Journal of Human Genetics · 2024 · PMID 38200082not yet assessed
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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation ↗Human Genetics · 2024 · PMID 39028335not yet assessed
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Pathogenic PHIP Variants are Variably Associated With CAKUT ↗Kidney International Reports · 2024 · PMID 39156152not yet assessed
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De novo variants predicting haploinsufficiency for <scp><i>DIP2C</i></scp> are associated with expressive speech delay ↗American Journal of Medical Genetics Part A · 2024 · PMID 38421105not yet assessed
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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability ↗The American Journal of Human Genetics · 2024 · PMID 39721588not yet assessed
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Biallelic variants in GTF3C3 result in an autosomal recessive disorder with intellectual disability ↗Genetics in Medicine · 2024 · PMID 39636576not yet assessed
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Interactive exploration of adverse events and multimorbidity in CKD ↗Nephrology Dialysis Transplantation · 2024 · PMID 38664006not yet assessed
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals ↗European Journal of Human Genetics · 2024 · PMID 38678163not yet assessed
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Further delineation of the SCAF4-associated neurodevelopmental disorder ↗European Journal of Human Genetics · 2024 · PMID 39668183not yet assessed
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Intrafamilial neurological phenotypic variability due to either biallelic or monoallelic pathogenic variants in CACNA1A ↗Frontiers in Neurology · 2024 · PMID 39416668not yet assessed
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Long-term outcomes of adults with FSGS in the German Chronic Kidney Disease cohort ↗Clinical Kidney Journal · 2024 · PMID 38989280not yet assessed
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Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study ↗BMC Cancer · 2024 · PMID 38454416not yet assessed
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Severe manifestation of <scp>Rauch‐Azzarello</scp> syndrome associated with biallelic deletion of <scp> <i>CTNND2</i> </scp> ↗Clinical Genetics · 2024 · PMID 38604781not yet assessed
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Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome ↗Skeletal Muscle · 2024 · PMID 39026379not yet assessed
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals ↗European Journal of Human Genetics · 2024 · PMID 39060653not yet assessed
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Ein Geburtstagsgruß für Ingo Hansmann zum 80. Geburtstag ↗Medizinische Genetik · 2024 · PMID 38841271not yet assessed
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The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation ↗Research Square · 2024not yet assessed
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Gorlin-Goltz-Syndrom: Multiple Tumore und Ovarialfibrome bei junger Patientin ↗Geburtshilfe und Frauenheilkunde · 2024not yet assessed
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Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline ↗Hypertension · 2024 · PMID 39005223not yet assessed
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Verleihung der GfH-Ehrenmedaille 2024 an Dr. rer. nat. Holger Prokisch ↗Medizinische Genetik · 2024 · PMID 39257931not yet assessed
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Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. ↗Medizinische Genetik · 2024 · PMID 39629460not yet assessed
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Association of mineral and bone biomarkers with adverse cardiovascular outcomes and mortality in the German Chronic Kidney Disease (GCKD) cohort ↗Bone Research · 2023 · PMID 37857629not yet assessed
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Pathogenic <i>SCN2A</i> variants cause early-stage dysfunction in patient-derived neurons ↗Human Molecular Genetics · 2023 · PMID 37010102not yet assessed
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals ↗Human Genetics · 2023 · PMID 38117302not yet assessed
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LHX2 haploinsufficiency causes a variable neurodevelopmental disorder ↗Genetics in Medicine · 2023 · PMID 37057675not yet assessed
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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice ↗Science Advances · 2023 · PMID 36897941not yet assessed
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Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue ↗Acta Neuropathologica Communications · 2023 · PMID 36906636not yet assessed
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Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals ↗Genetics in Medicine · 2023 · PMID 37551667not yet assessed
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Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center ↗Cancers · 2023 · PMID 38136436not yet assessed
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Regional Variation in Hemoglobin Distribution Among Individuals With CKD: the ISN International Network of CKD Cohorts ↗Kidney International Reports · 2023 · PMID 37850014not yet assessed
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Copeptin, Natriuretic Peptides, and Cardiovascular Outcomes in Patients With CKD: The German Chronic Kidney Disease (GCKD) Study ↗Kidney Medicine · 2023 · PMID 37915964not yet assessed
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Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome ↗BMC Genomics · 2023 · PMID 36797672not yet assessed
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<scp>CAMTA1‐related</scp> disorder: Phenotypic and molecular characterization of 26 new individuals and literature review ↗Clinical Genetics · 2023 · PMID 38044714not yet assessed
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Ex Vivo Chromosomal Radiosensitivity Testing in Patients with Pathological Germline Variants in Breast Cancer High-Susceptibility Genes BReast CAncer 1 and BReast CAncer 2 ↗Current Issues in Molecular Biology · 2023 · PMID 37623237not yet assessed
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Prospective Cohort Study of Soluble Urokinase Plasminogen Activation Receptor and Cardiovascular Events in Patients With CKD ↗Kidney International Reports · 2023 · PMID 38025216not yet assessed
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Differential Prognostic Utility of Adiposity Measures in Chronic Kidney Disease ↗Journal of Renal Nutrition · 2023 · PMID 37116626not yet assessed
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GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets ↗medRxiv · 2023 · PMID 37873414not yet assessed
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Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? ↗European Journal of Medical Genetics · 2023 · PMID 36746366not yet assessed
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Elucidating the clinical and molecular spectrum of <i>SMARCC2</i> -associated NDD in a cohort of 65 affected individuals ↗medRxiv · 2023not yet assessed
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#3639 WHEN WHOLE EXOME SEQUENCING IS NOT GOOD ENOUGH: BACK TO THE ROOTS OR FORWARD TO THE FUTURE ↗Nephrology Dialysis Transplantation · 2023not yet assessed
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PCR6 Impact of Perianal Fistulas on Crohn’s Disease Patients ↗Value in Health · 2023not yet assessed
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Dentate gyrus astrocytes exhibit layer-specific molecular, morphological and physiological features ↗Nature Neuroscience · 2022 · PMID 36443610not yet assessed
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Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases ↗Kidney International · 2022 · PMID 35643372not yet assessed
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Association of osteopontin with kidney function and kidney failure in chronic kidney disease patients: the GCKD study ↗Nephrology Dialysis Transplantation · 2022 · PMID 35524694not yet assessed
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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile ↗Genetics in Medicine · 2022 · PMID 35341651not yet assessed
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Astrogenesis in the murine dentate gyrus is a life‐long and dynamic process ↗The EMBO Journal · 2022 · PMID 35451150not yet assessed
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Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling ↗Genetics in Medicine · 2022 · PMID 35980381not yet assessed
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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study ↗European Journal of Human Genetics · 2022 · PMID 36100708not yet assessed
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Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3 ↗Communications Biology · 2022 · PMID 36088423not yet assessed
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Heart-Type Fatty Acid Binding Protein, Cardiovascular Outcomes, and Death: Findings From the German CKD Cohort Study ↗American Journal of Kidney Diseases · 2022 · PMID 35288215not yet assessed
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Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay ↗European Journal of Medical Genetics · 2022 · PMID 36379434not yet assessed
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SRD5A3-CDG: Twins with an intragenic tandem duplication ↗European Journal of Medical Genetics · 2022 · PMID 35339718not yet assessed
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Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer ↗Clinical Cancer Research · 2022 · PMID 35653140not yet assessed
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The recurrent <scp><i>TCF4</i></scp> missense variant p.(<scp>Arg389Cys</scp>) causes a neurodevelopmental disorder overlapping with but not typical for <scp>Pitt‐Hopkins</scp> syndrome ↗Clinical Genetics · 2022 · PMID 35908153not yet assessed
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Familial acute aortic dissection associated with a novel ACTA2 germline variant ↗Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · 2022 · PMID 35896809not yet assessed
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Small Interstitial Deletion at Chromosome 12q21.33q22 in an Individual with Pronounced Delay in Speech Development ↗SSRN Electronic Journal · 2022not yet assessed
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Dynamic management of residual operational risk of offshore drilling units ↗Technical Papers ... Rio Oil & Gas · 2022not yet assessed
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COVID immunity in the Angolan population ↗MGM Journal of Medical Sciences · 2022not yet assessed
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Astrocyte diversity: the adult dentate gyrus is populated by layer-specific astrocyte subtypes ↗Figshare · 2022not yet assessed
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior ↗Genetics in Medicine · 2021 · PMID 33658631not yet assessed
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Frequent LPA KIV-2 Variants Lower Lipoprotein(a) Concentrations and Protect Against Coronary Artery Disease ↗Journal of the American College of Cardiology · 2021 · PMID 34325833not yet assessed
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Mutations in <i>BRCA1/2</i> and Other Panel Genes in Patients With Metastatic Breast Cancer —Association With Patient and Disease Characteristics and Effect on Prognosis ↗Journal of Clinical Oncology · 2021 · PMID 33780288not yet assessed
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Urine Metabolite Levels, Adverse Kidney Outcomes, and Mortality in CKD Patients: A Metabolome-wide Association Study ↗American Journal of Kidney Diseases · 2021 · PMID 33839201not yet assessed
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Association of Rare <i>CYP39A1</i> Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye ↗JAMA · 2021 · PMID 33620406not yet assessed
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<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability ↗Journal of Medical Genetics · 2021 · PMID 34930816not yet assessed
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Genome sequencing in families with congenital limb malformations ↗Human Genetics · 2021 · PMID 34159400not yet assessed
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scRNA sequencing uncovers a TCF4-dependent transcription factor network regulating commissure development in mouse ↗Development · 2021 · PMID 34184026not yet assessed
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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum ↗Orphanet Journal of Rare Diseases · 2021 · PMID 33736665not yet assessed
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BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome ↗The Journal of Clinical Endocrinology & Metabolism · 2021 · PMID 34383079not yet assessed
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<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization ↗Human Molecular Genetics · 2021 · PMID 34505148not yet assessed
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Biallelic<i>ANKS6</i>mutations cause late-onset ciliopathy with chronic kidney disease through YAP dysregulation ↗Human Molecular Genetics · 2021 · PMID 34740236not yet assessed
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The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype ↗Journal of Molecular Medicine · 2021 · PMID 34536092not yet assessed
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Manifestation of epilepsy in a patient with <scp><i>EED</i></scp>‐related overgrowth (<scp>Cohen–Gibson</scp> syndrome) ↗American Journal of Medical Genetics Part A · 2021 · PMID 34533271not yet assessed
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Clinical and molecular delineation of spondylocostal dysostosis type 3 ↗Clinical Genetics · 2021 · PMID 33728697not yet assessed
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A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine ↗Transplant International · 2021 · PMID 33904183not yet assessed
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Genetic Analysis of MPO Variants in Four Psoriasis Subtypes in Patients from Germany ↗Journal of Investigative Dermatology · 2021 · PMID 33609556not yet assessed
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Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study ↗medRxiv · 2021not yet assessed
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Paediatric Cancer Predisposition Documentation Tool – Standardized Reporting Form for Children and Adolescents With Suspected Cancer Predisposition Syndrome ↗Research Square · 2021not yet assessed
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Genetic variability of lymphangiogenesis in Collaborative Cross mice: a powerful tool to identify novel endogenous regulators of lymphangiogenesisInvestigative Ophthalmology & Visual Science · 2021not yet assessed
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Cystathionine β-synthase as novel regulator of lymphangiogenesis2021not yet assessed
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Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype ↗Journal of Molecular Medicine · 2021 · PMID 34661688not yet assessed
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Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum ↗Figshare · 2021not yet assessed
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Prevalence of Autosomal Dominant Tubulointerstitial Kidney Disease in the German Chronic Kidney Disease (GCKD) Cohort ↗Journal of the American Society of Nephrology · 2021not yet assessed
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Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases ↗The American Journal of Human Genetics · 2020 · PMID 32758447not yet assessed
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Rare Loss-of-Function Mutation in SERPINA3 in Generalized Pustular Psoriasis ↗Journal of Investigative Dermatology · 2020 · PMID 31945348not yet assessed
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Transcription factor Tcf4 is the preferred heterodimerization partner for Olig2 in oligodendrocytes and required for differentiation ↗Nucleic Acids Research · 2020 · PMID 32266943not yet assessed
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Further delineation of the female phenotype with <scp> <i>KDM5C</i> </scp> disease causing variants: 19 new individuals and review of the literature ↗Clinical Genetics · 2020 · PMID 32279304not yet assessed
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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females ↗Genetics in Medicine · 2020 · PMID 33244165not yet assessed
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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants ↗Modern Pathology · 2020 · PMID 32612247not yet assessed
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Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder ↗European Journal of Medical Genetics · 2020 · PMID 33338668not yet assessed
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Role of Endogenous Regulators of Hem- And Lymphangiogenesis in Corneal Transplantation ↗Journal of Clinical Medicine · 2020 · PMID 32050484not yet assessed
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Breast MRI texture analysis for prediction of BRCA-associated genetic risk ↗BMC Medical Imaging · 2020 · PMID 32727387not yet assessed
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A case of severe autosomal recessive spinocerebellar ataxia type 18 with a novel nonsense variant in GRID2 ↗European Journal of Medical Genetics · 2020 · PMID 32622959not yet assessed
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7q31.2q31.31 deletion downstream of <scp><i>FOXP2</i></scp> segregating in a family with speech and language disorder ↗American Journal of Medical Genetics Part A · 2020 · PMID 32885567not yet assessed
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CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome ↗Stem Cell Research · 2020 · PMID 32682288not yet assessed
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A novel splice variant expands the <scp><i>LAMC3</i></scp>‐associated cortical phenotype to frontal only polymicrogyria and adult‐onset epilepsy ↗American Journal of Medical Genetics Part A · 2020 · PMID 32902107not yet assessed
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scRNA-Sequencing uncovers a TCF-4-dependent transcription factor network regulating commissure development ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
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Analysis of Genetically Determined Gene Expression Suggests Role of Inflammatory Processes in Exfoliation Syndrome ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
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<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability ↗bioRxiv (Cold Spring Harbor Laboratory) · 2020not yet assessed
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Analysis of genetically determined gene expression suggest role of inflammatory processes in etiology of exfoliation syndromeInvestigative Ophthalmology & Visual Science · 2020not yet assessed
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Inflammation-induced glycolytic switch controls suppressivity of mesenchymal stem cells via STAT1 glycosylation ↗Leukemia · 2019 · PMID 30679801not yet assessed
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Mitochondrial DNA copy number is associated with mortality and infections in a large cohort of patients with chronic kidney disease ↗Kidney International · 2019 · PMID 31248648not yet assessed
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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy ↗Orphanet Journal of Rare Diseases · 2019 · PMID 30744660not yet assessed
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<i>TRIM28</i> haploinsufficiency predisposes to Wilms tumor ↗International Journal of Cancer · 2019 · PMID 30694527not yet assessed
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Encephalopathies with <i>KCNC1</i> variants: genotype‐phenotype‐functional correlations ↗Annals of Clinical and Translational Neurology · 2019 · PMID 31353855not yet assessed
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction ↗PLoS Genetics · 2019 · PMID 31034465not yet assessed
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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder ↗Genetics in Medicine · 2019 · PMID 31723249not yet assessed
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Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma ↗JAMA Ophthalmology · 2019 · PMID 30653210not yet assessed
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Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia ↗Genetics in Medicine · 2019 · PMID 30607023not yet assessed
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy ↗Genetics in Medicine · 2019 · PMID 31776469not yet assessed
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The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome ↗Human Molecular Genetics · 2019 · PMID 30986821not yet assessed
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Prenatal diagnosis of <i>HNF1B</i> ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? ↗Prenatal Diagnosis · 2019 · PMID 31498910not yet assessed
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A novel human stem cell model for Coffin–Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival ↗Human Molecular Genetics · 2019 · PMID 31035284not yet assessed
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Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature ↗European Journal of Human Genetics · 2019 · PMID 30809043not yet assessed
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Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis ↗Genetics in Medicine · 2019 · PMID 31000793not yet assessed
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Cost effectiveness of bilateral risk-reducing mastectomy and salpingo-oophorectomy ↗European journal of medical research · 2019 · PMID 31521205not yet assessed
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Sox11 is an Activity-Regulated Gene with Dentate-Gyrus-Specific Expression Upon General Neural Activation ↗Cerebral Cortex · 2019 · PMID 32080705not yet assessed
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Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants ↗Lara D. Veeken · 2019 · PMID 30753645not yet assessed
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The Dilemma of Regularly Missed Diagnoses: ADTKD ↗Archives of Clinical and Medical Case Reports · 2019not yet assessed
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Molecular diagnosis of kidney transplant failure based on urine ↗American Journal of Transplantation · 2019 · PMID 31814324not yet assessed
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Diagnostik seltener Erkrankungen mit „next generation sequencing“ – angekommen oder abgewehrt? ↗Medizinische Genetik · 2019not yet assessed
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Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability ↗BMC Cancer · 2019 · PMID 31077186not yet assessed
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ↗Nature Communications · 2019 · PMID 31048695not yet assessed
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Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants ↗bioRxiv (Cold Spring Harbor Laboratory) · 2019not yet assessed
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Prenatal diagnosis of <i>HNF1B</i> -associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome? ↗bioRxiv (Cold Spring Harbor Laboratory) · 2019not yet assessed
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Identifying Genes that Underlie Exfoliation Syndrome using Genetically Determined Gene ExpressionInvestigative Ophthalmology & Visual Science · 2019not yet assessed
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Functional implication of the pseudoexfoliation-associated rare variant p.Y407F at LOXL1Investigative Ophthalmology & Visual Science · 2019not yet assessed
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ↗Nature Communications · 2019 · PMID 30770872not yet assessed
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Tyrosinase is a novel endogenous inhibitor of lymphangiogenesisInvestigative Ophthalmology & Visual Science · 2019not yet assessed
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Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?Open MIND · 2019not yet assessed
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α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies ↗Proceedings of the National Academy of Sciences · 2018 · PMID 29991596not yet assessed
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Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior ↗The American Journal of Human Genetics · 2018 · PMID 30526862not yet assessed
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language ↗Nature Communications · 2018 · PMID 30397230not yet assessed
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome ↗The American Journal of Human Genetics · 2018 · PMID 29429572not yet assessed
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BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients ↗Breast Cancer Research and Treatment · 2018 · PMID 29725888not yet assessed
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Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations ↗Scientific Reports · 2018 · PMID 29520014not yet assessed
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Risk, Prediction and Prevention of Hereditary Breast Cancer – Large-Scale Genomic Studies in Times of Big and Smart Data ↗Geburtshilfe und Frauenheilkunde · 2018 · PMID 29880983not yet assessed
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Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium ↗Scientific Reports · 2018 · PMID 30464253not yet assessed
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder ↗The American Journal of Human Genetics · 2018 · PMID 30057029not yet assessed
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation ↗Nature Genetics · 2018 · PMID 30224647not yet assessed
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Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition ↗Journal of the American Society of Nephrology · 2018 · PMID 30049680not yet assessed
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The polynucleotide kinase 3′-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25 ↗Neurogenetics · 2018 · PMID 30039206not yet assessed
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SWI/SNF protein expression status in fumarate hydratase–deficient renal cell carcinoma: immunohistochemical analysis of 32 tumors from 28 patients ↗Human Pathology · 2018 · PMID 29689242not yet assessed
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Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria ↗BMC Cancer · 2018 · PMID 30257646not yet assessed
-
A biallelic truncating <i>AEBP1</i> variant causes connective tissue disorder in two siblings ↗American Journal of Medical Genetics Part A · 2018 · PMID 30548383not yet assessed
-
Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome ↗European Journal of Medical Genetics · 2018 · PMID 29407414not yet assessed
-
Novel truncating mutation in <i>CACNA1F</i> in a young male patient diagnosed with optic atrophy ↗Ophthalmic Genetics · 2018 · PMID 30260717not yet assessed
-
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature ↗Yearbook of pediatric endocrinology · 2018not yet assessed
-
Tyrosinase Is a Novel Endogenous Regulator of Developmental and Inflammatory Lymphangiogenesis ↗American Journal Of Pathology · 2018 · PMID 30448402not yet assessed
-
Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability ↗BMC Medical Genomics · 2018 · PMID 29685133not yet assessed
-
Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent <i>BCOR</i> variant p.Pro85Leu ↗American Journal of Medical Genetics Part A · 2018 · PMID 30450806not yet assessed
-
Genetik der allgemeinen kognitiven Fähigkeit ↗Medizinische Genetik · 2018not yet assessed
-
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Authors ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Mutations In <i>PIK3C2A</i> Cause Syndromic Short Stature, Skeletal Abnormalities, and Cataracts Associated With Ciliary Dysfunction ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Genetic variants in FCGR2A and FCGR3A and disease-free survival in patients with HER2 positive breast cancer treated with trastuzumab in the SUCCESS A trial ↗Senologie - Zeitschrift für Mammadiagnostik und -therapie · 2018not yet assessed
-
Influência do Sistema de Polimento na Rugosidade da Superfície de Resinas Compostas de Incremento Único Regulares e de Baixa Viscosidade ↗The International Journal of Periodontics & Restorative Dentistry · 2018not yet assessed
-
RNA-seq and pathway analysis of ocular tissues in PEX patients and healthy subjectsInvestigative Ophthalmology & Visual Science · 2018not yet assessed
-
Pseudoexfoliation associated protective variant, rs7173049, reveals a novel regulatory region downstream of LOXL12018not yet assessed
-
The mutational and phenotypic spectrum of <i>TUBA1A</i> -associated tubulinopathy ↗bioRxiv (Cold Spring Harbor Laboratory) · 2018not yet assessed
-
Tyrosinase downregulates Fibromodulin-induced lymphangiogenesisKölner Universitäts PublikationsServer (Universität zu Köln) · 2018not yet assessed
-
not yet assessed
-
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases ↗JAMA Oncology · 2017 · PMID 28241208not yet assessed
-
Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants ↗Nature Communications · 2017 · PMID 28537254not yet assessed
-
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders ↗JAMA Psychiatry · 2017 · PMID 28097321not yet assessed
-
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci ↗Nature Genetics · 2017 · PMID 28553957not yet assessed
-
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature ↗Genetics in Medicine · 2017 · PMID 29758562not yet assessed
-
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features ↗The American Journal of Human Genetics · 2017 · PMID 28942966not yet assessed
-
Exome Pool-Seq in neurodevelopmental disorders ↗European Journal of Human Genetics · 2017 · PMID 29158550not yet assessed
-
Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature ↗Scientific Reports · 2017 · PMID 28939912not yet assessed
-
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 ↗Nature Communications · 2017 · PMID 28534485not yet assessed
-
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability ↗Nature Communications · 2017 · PMID 28675162not yet assessed
-
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling ↗Human Molecular Genetics · 2017 · PMID 28973304not yet assessed
-
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly ↗The American Journal of Human Genetics · 2017 · PMID 28257693not yet assessed
-
Haploinsufficiency of <i>NR4A2</i> is associated with a neurodevelopmental phenotype with prominent language impairment ↗American Journal of Medical Genetics Part A · 2017 · PMID 28544326not yet assessed
-
Cost-effectiveness of risk-reducing surgeries in preventing hereditary breast and ovarian cancer ↗The Breast · 2017 · PMID 28214786not yet assessed
-
Posttranscriptional Regulation of LOXL1 Expression Via Alternative Splicing and Nonsense-Mediated mRNA Decay as an Adaptive Stress Response ↗Investigative Ophthalmology & Visual Science · 2017 · PMID 29164236not yet assessed
-
Evidence for genetic overlap between adult onset Still’s disease and hereditary periodic fever syndromes ↗Rheumatology International · 2017 · PMID 29159471not yet assessed
-
Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study ↗Geburtshilfe und Frauenheilkunde · 2017 · PMID 28757652not yet assessed
-
Novel <i>STRA6</i> null mutations in the original family described with Matthew–Wood syndrome ↗American Journal of Medical Genetics Part A · 2017 · PMID 29168296not yet assessed
-
Clinical validation of genetic variants associated with <i>in vitro</i> chemotherapy-related lymphoblastoid cell toxicity ↗Oncotarget · 2017 · PMID 29100455not yet assessed
-
<i>KIF3A</i>and<i>IL-4</i>are disease-specific biomarkers for psoriatic arthritis susceptibility ↗Oncotarget · 2017 · PMID 29221136not yet assessed
-
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica ↗JIMD Reports · 2017 · PMID 28130718not yet assessed
-
Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients ↗BMC Medical Genetics · 2017 · PMID 28835222not yet assessed
-
Neue Therapieansätze bei entzündlichen Augenerkrankungen durch Modulation von Lymphangiogenese und zellulärer Immunität: Die DFG-Forschergruppe 2240 stellt sich vor ↗Klinische Monatsblätter für Augenheilkunde · 2017 · PMID 28505676not yet assessed
-
Dysregulated expression of POMP and TMEM136 may contribute to impaired proteasome function and endothelial dysfunction in eyes with pseudoexfoliation syndrome/glaucomaInvestigative Ophthalmology & Visual Science · 2017not yet assessed
-
Alternative splicing and nonsense-mediated mRNA decay contribute to regulation of LOXL1 expression in response to cellular stress in pseudoexfoliationInvestigative Ophthalmology & Visual Science · 2017not yet assessed
-
“Fatuk-Kuak Hosi Timor Lorosa’e”:Caves of Timor-LesteResearch at the University of Copenhagen (University of Copenhagen) · 2017not yet assessed
-
Erratum: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia ↗Nature Genetics · 2017 · PMID 28546572not yet assessed
-
Tyrosinase: a novel endogenous regulator of (corneal) lymphangiogenesisKölner Universitäts PublikationsServer (Universität zu Köln) · 2017not yet assessed
-
Utilização de Redes Neurais Artificiais para Detecção de Adulteração de Gasolina ↗Anais do ... Congresso Ibero-Latino-Americano de Métodos Computacionais em Engenharia · 2017not yet assessed
-
Missense mutations disrupting the ATPase domain of CHD3 cause a novel neurodevelopmental syndrome with intellectual disability, macrocephaly and impaired speech and language2017not yet assessed
-
L- and M-cone driven temporal contrast sensitivity is reduced at low frequencies in patients with Stargardt’s diseaseInvestigative Ophthalmology & Visual Science · 2017not yet assessed
-
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia ↗Nature Genetics · 2016 · PMID 27992417not yet assessed
-
Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy ↗Journal of Medical Genetics · 2016 · PMID 26989088not yet assessed
-
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2 ↗International Journal of Cancer · 2016 · PMID 27616075not yet assessed
-
Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency ↗Human Mutation · 2016 · PMID 27094817not yet assessed
-
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features ↗The American Journal of Human Genetics · 2016 · PMID 27616480not yet assessed
-
α-Synuclein-induced myelination deficit defines a novel interventional target for multiple system atrophy ↗Acta Neuropathologica · 2016 · PMID 27059609not yet assessed
-
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness? ↗PLoS ONE · 2016 · PMID 27936167not yet assessed
-
<i>FOXP2</i> variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum ↗Journal of Medical Genetics · 2016 · PMID 27572252not yet assessed
-
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly ↗The American Journal of Human Genetics · 2016 · PMID 27392077not yet assessed
-
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic <i>CNTNAP2</i> aberrations allow delineation of the mutational and phenotypic spectrum ↗Journal of Medical Genetics · 2016 · PMID 27439707not yet assessed
-
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition ↗European Journal of Human Genetics · 2016 · PMID 27901041not yet assessed
-
GSK3ß‐dependent dysregulation of neurodevelopment in SPG11‐patient induced pluripotent stem cell model ↗Annals of Neurology · 2016 · PMID 26971897not yet assessed
-
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss ↗Orphanet Journal of Rare Diseases · 2016 · PMID 27683084not yet assessed
-
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma ↗Orphanet Journal of Rare Diseases · 2016 · PMID 27484908not yet assessed
-
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly ↗The American Journal of Human Genetics · 2016not yet assessed
-
Do the exome: A case of Williams-Beuren syndrome with severe epilepsy due to a truncating de novo variant in GABRA1 ↗European Journal of Medical Genetics · 2016 · PMID 27613244not yet assessed
-
Replication of a distinct psoriatic arthritis risk variant at the IL23R locus ↗Annals of the Rheumatic Diseases · 2016 · PMID 27016051not yet assessed
-
Association analysis of psoriasis vulgaris and psoriatic arthritis with loss‐of‐function mutations in <i> <scp>IL</scp> 36 <scp>RN</scp> </i> in German patients ↗British Journal of Dermatology · 2016 · PMID 27038307not yet assessed
-
A new missense mutation in PLA2G6 gene among a family with infantile neuroaxonal dystrophy INAD ↗Egyptian Pediatric Association Gazette · 2016not yet assessed
-
Phenotype of vulnerable atherosclerotic plaques shows strong association with single nucleotide polymorphism alleles of common risk variants for coronary artery disease ↗Atherosclerosis · 2016not yet assessed
-
LOXL1 intronic variants influence LOXL1 expression through differential transcription factor binding in pseudoexfoliation syndrome/glaucomaInvestigative Ophthalmology & Visual Science · 2016not yet assessed
-
219 Validation of a Distinct Psoriatic Arthritis Risk Variant at <italic>IL23R</italic> ↗Lara D. Veeken · 2016not yet assessed
-
SAT0011 Replication of A Distinct Psoriatic Arthritis Risk Variant at IL23R ↗Annals of the Rheumatic Diseases · 2016not yet assessed
-
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture ↗The American Journal of Human Genetics · 2015 · PMID 26626624not yet assessed
-
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8 ↗The American Journal of Human Genetics · 2015 · PMID 26637978not yet assessed
-
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci ↗Nature Communications · 2015 · PMID 25939698not yet assessed
-
Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis ↗Nature Communications · 2015 · PMID 25651891not yet assessed
-
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome ↗Nature Genetics · 2015 · PMID 25706626not yet assessed
-
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) ↗eLife · 2015 · PMID 26386247not yet assessed
-
PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a further PsA-specific risk locus ↗Annals of the Rheumatic Diseases · 2015 · PMID 25923216not yet assessed
-
Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the<i>LOXL1</i>locus ↗Human Molecular Genetics · 2015 · PMID 26307087not yet assessed
-
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling ↗The American Journal of Human Genetics · 2015 · PMID 26340334not yet assessed
-
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment ↗Human Molecular Genetics · 2015 · PMID 25701870not yet assessed
-
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects ↗Scientific Reports · 2015 · PMID 26130459not yet assessed
-
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects ↗Molecular Syndromology · 2015 · PMID 26279649not yet assessed
-
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome ↗European Journal of Human Genetics · 2015 · PMID 26443266not yet assessed
-
Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld–Rieger syndrome and glaucoma ↗Gene · 2015 · PMID 25967385not yet assessed
-
Late onset congenital cystic adenomatous malformation associated with intra-lobar pulmonary sequestration ↗Revista Portuguesa de Pneumologia · 2015 · PMID 26095149not yet assessed
-
not yet assessed
-
Correction: Corrigendum: Dense genotyping of immune-related susceptibility loci reveals new insights into the genetics of psoriatic arthritis ↗Nature Communications · 2015not yet assessed
-
Erratum: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome ↗Nature Genetics · 2015 · PMID 26018902not yet assessed
-
50 Jahre Humangenetik in Erlangen ↗Medizinische Genetik · 2015not yet assessed
-
humu22737-sup-0001-tableS12015not yet assessed
-
not yet assessed
-
OP0128 PTPN22 is Associated with Susceptibility to Psoriatic Arthritis but not Psoriasis: Evidence for a Further PSA-Specific Risk Locus ↗Annals of the Rheumatic Diseases · 2015not yet assessed
-
Supplementary Material for: <b><i>MAN1B1</i></b> Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects ↗Figshare · 2015not yet assessed
-
Strain-dependent changes in the limbal lymphatic vasculature in BALB/c and C57BL/6 mice during agingKölner Universitäts PublikationsServer (Universität zu Köln) · 2015not yet assessed
-
CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration ↗Cell · 2014 · PMID 24766810not yet assessed
-
Disease burden and risk profile in referred patients with moderate chronic kidney disease: composition of the German Chronic Kidney Disease (GCKD) cohort ↗Nephrology Dialysis Transplantation · 2014 · PMID 25271006not yet assessed
-
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum ↗Human Genetics · 2014 · PMID 25326669not yet assessed
-
Prevalence and correlates of gout in a large cohort of patients with chronic kidney disease: the German Chronic Kidney Disease (GCKD) study ↗Nephrology Dialysis Transplantation · 2014 · PMID 25395390not yet assessed
-
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin ↗Kidney International · 2014 · PMID 24670410not yet assessed
-
The clinical significance of small copy number variants in neurodevelopmental disorders ↗Journal of Medical Genetics · 2014 · PMID 25106414not yet assessed
-
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females ↗European Journal of Human Genetics · 2014 · PMID 25099252not yet assessed
-
Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy ↗PLoS Genetics · 2014 · PMID 24784135not yet assessed
-
<i>NDST1</i> missense mutations in autosomal recessive intellectual disability ↗American Journal of Medical Genetics Part A · 2014 · PMID 25125150not yet assessed
-
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations ↗Human Genetics · 2014 · PMID 24615390not yet assessed
-
Altered<i>GPM6A/M6</i>Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and<i>Drosophila</i> ↗Human Mutation · 2014 · PMID 25224183not yet assessed
-
Deletions in the 3′ Part of the<i>NFIX</i>Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome ↗Human Mutation · 2014 · PMID 24924640not yet assessed
-
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders ↗American Journal of Medical Genetics Part A · 2014 · PMID 25251209not yet assessed
-
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations ↗International Journal of Cancer · 2014 · PMID 25142776not yet assessed
-
MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation ↗Human Mutation · 2014 · PMID 25323976not yet assessed
-
The proinflammatory effect of C-reactive protein on human endothelial cells depends on the FcγRIIa genotype ↗Thrombosis Research · 2014 · PMID 24440139not yet assessed
-
Inhibition of RAS Activation Due to a Homozygous Ezrin Variant in Patients with Profound Intellectual Disability ↗Human Mutation · 2014 · PMID 25504542not yet assessed
-
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability ↗The American Journal of Human Genetics · 2013 · PMID 23746550not yet assessed
-
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability ↗The American Journal of Human Genetics · 2013 · PMID 23561846not yet assessed
-
Rare Copy Number Variants Are a Common Cause of Short Stature ↗PLoS Genetics · 2013 · PMID 23516380not yet assessed
-
Variants in <i>RUNX3</i> Contribute to Susceptibility to Psoriatic Arthritis, Exhibiting Further Common Ground With Ankylosing Spondylitis ↗Arthritis & Rheumatism · 2013 · PMID 23401011not yet assessed
-
A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in <i>PHF6</i> in seven females with a distinct phenotype ↗Journal of Medical Genetics · 2013 · PMID 24092917not yet assessed
-
Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene ↗Behavioral and Brain Functions · 2013 · PMID 23718928not yet assessed
-
Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation ↗European Journal of Medical Genetics · 2013 · PMID 24080142not yet assessed
-
Biallelic <i>SEMA3A</i> defects cause a novel type of syndromic short stature ↗American Journal of Medical Genetics Part A · 2013 · PMID 24124006not yet assessed
-
Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders ↗European Journal of Medical Genetics · 2013 · PMID 24140640not yet assessed
-
Towards a New Science of a Clinical Data Intelligence ↗arXiv (Cornell University) · 2013not yet assessed
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study ↗The Lancet · 2012 · PMID 23020937not yet assessed
-
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity ↗Nature Genetics · 2012 · PMID 23143594not yet assessed
-
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability ↗The American Journal of Human Genetics · 2012 · PMID 22405089not yet assessed
-
Common Genetic Determinants of Intraocular Pressure and Primary Open-Angle Glaucoma ↗PLoS Genetics · 2012 · PMID 22570627not yet assessed
-
Association of β-Defensin Copy Number and Psoriasis in Three Cohorts of European Origin ↗Journal of Investigative Dermatology · 2012 · PMID 22739795not yet assessed
-
Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization ↗Arthritis Research & Therapy · 2012 · PMID 22513239not yet assessed
-
Patients with unstable angina pectoris show an increased frequency of the Fc gamma RIIa R131 allele ↗Autoimmunity · 2012 · PMID 22559288not yet assessed
-
A defect of CD16-positive monocytes can occur without disease ↗Immunobiology · 2012 · PMID 22459269not yet assessed
-
De novo triplication of the <i>MAPT</i> gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies ↗American Journal of Medical Genetics Part A · 2012 · PMID 22678764not yet assessed
-
Novel Stra6 Null Mutations In The Original Patient With Matthew-wood SyndromeInvestigative Ophthalmology & Visual Science · 2012not yet assessed
-
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ↗Nature · 2011 · PMID 21881559not yet assessed
-
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature ↗The American Journal of Human Genetics · 2011 · PMID 21620353not yet assessed
-
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski ↗The American Journal of Human Genetics · 2011 · PMID 21211617not yet assessed
-
The German Chronic Kidney Disease (GCKD) study: design and methods ↗Nephrology Dialysis Transplantation · 2011 · PMID 21862458not yet assessed
-
Common genetic variants associated with open-angle glaucoma ↗Human Molecular Genetics · 2011 · PMID 21427129not yet assessed
-
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1 ↗BMC Medical Genetics · 2011 · PMID 21827697not yet assessed
-
Variants in ASB10 are associated with open-angle glaucoma ↗Human Molecular Genetics · 2011 · PMID 22156576not yet assessed
-
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice ↗Journal of Clinical Investigation · 2011 · PMID 21804188not yet assessed
-
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity ↗European Journal of Human Genetics · 2011 · PMID 21629298not yet assessed
-
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of <b><i>SMARCA2</i></b> in Three Patients with Nicolaides-Baraitser Syndrome ↗Molecular Syndromology · 2011 · PMID 22822383not yet assessed
-
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma ↗European Journal of Human Genetics · 2011 · PMID 21224891not yet assessed
-
Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis ↗Arthritis & Rheumatism · 2011 · PMID 21400479not yet assessed
-
Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population ↗American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2011 · PMID 21302348not yet assessed
-
Tumor necrosis factor promoter polymorphism TNF*-857 is a risk allele for psoriatic arthritis independent of the PSORS1 locus ↗Arthritis & Rheumatism · 2011 · PMID 22127698not yet assessed
-
Evaluation of conserved and ultra‐conserved non‐genic sequences in chromosome 15q15‐linked periodic catatonia ↗American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2011 · PMID 22162401not yet assessed
-
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B) ↗European Journal of Medical Genetics · 2011 · PMID 21722758not yet assessed
-
Association between IL28B gene polymorphisms and sustained virological response in patients coinfected with HCV and HIV in Brazil ↗Journal of Antimicrobial Chemotherapy · 2011 · PMID 22146876not yet assessed
-
Prevalência da INgestão de Álcool nos Adolescentes - Estudo PINGA ↗Revista Portuguesa de Clínica Geral · 2011not yet assessed
-
Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum ↗European Journal of Medical Genetics · 2011 · PMID 21777705not yet assessed
-
In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser SyndromeOpen MIND · 2011not yet assessed
-
Complete basal cell carcinoma remission with imiquimod in a patient with nevoid basal cell carcinoma syndrome and associated basal cell carcinoma of the scalp and invasive ductal breast cancer ↗Journal of the American Academy of Dermatology · 2011 · PMID 21315966not yet assessed
-
Copy Number Variations (CNVs) in Juvenile Periodic Catatonia ↗International Clinical Psychopharmacology · 2011not yet assessed
-
Assessment of ASB10 Missense Variants in a German and Italian Cohort of Patients with Primary Open-Angle GlaucomaUse Siena air (University of Siena) · 2011not yet assessed
-
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1 ↗Nature Genetics · 2010 · PMID 20953190not yet assessed
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesNature Genetics · 2010 · PMID 2089027696/100
-
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis ↗Nature Genetics · 2010 · PMID 20953186not yet assessed
-
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression ↗Human Mutation · 2010 · PMID 20513142not yet assessed
-
Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease ↗Circulation Cardiovascular Genetics · 2010 · PMID 20529992not yet assessed
-
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23 ↗European Heart Journal · 2010 · PMID 21088011not yet assessed
-
Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum ↗Molecular Syndromology · 2010 · PMID 21031079not yet assessed
-
Meta-Analysis Confirms the LCE3C_LCE3B Deletion as a Risk Factor for Psoriasis in Several Ethnic Groups and Finds Interaction with HLA-Cw6 ↗Journal of Investigative Dermatology · 2010 · PMID 21107349not yet assessed
-
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome ↗European Journal of Human Genetics · 2010 · PMID 20808326not yet assessed
-
Heterozygous Loss-of-Function Variants in<i>CYP1B1</i>Predispose to Primary Open-Angle Glaucoma ↗Investigative Ophthalmology & Visual Science · 2010 · PMID 19643970not yet assessed
-
Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma ↗Journal of Glaucoma · 2010 · PMID 20543710not yet assessed
-
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype ↗Human Mutation · 2010 · PMID 20597108not yet assessed
-
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies ↗BMC Bioinformatics · 2010 · PMID 20858257not yet assessed
-
W04-04 - Genetics and Pathophysiology of Catatonia ↗European Psychiatry · 2010not yet assessed
-
Response to Liu et al. ↗The American Journal of Human Genetics · 2010not yet assessed
-
Heterozygous Rpgrip1 Mutations Are Associated With Primary Open-Angle Glaucoma2010not yet assessed
-
Avaliação do efeito da associação do Rituximab ao protocolo de quimioterapia ciclofosfamida, doxorrubicina, vincristina e prednisolona (CHOP) no tratamento de linfomas Não-HodgkinPortuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) · 2010not yet assessed
-
Genome Wide Association Study With Dna Pooling Identifies Variants at Cntnap2 Associated With Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma2010not yet assessed
-
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila ↗The American Journal of Human Genetics · 2009 · PMID 19896112not yet assessed
-
Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma ↗The American Journal of Human Genetics · 2009 · PMID 19765683not yet assessed
-
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models ↗Neurogenetics · 2009 · PMID 19290556not yet assessed
-
Replication of LCE3C–LCE3B CNV as a Risk Factor for Psoriasis and Analysis of Interaction with Other Genetic Risk Factors ↗Journal of Investigative Dermatology · 2009 · PMID 20016497not yet assessed
-
Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma ↗Investigative Ophthalmology & Visual Science · 2009 · PMID 19182256not yet assessed
-
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients ↗Annals of the Rheumatic Diseases · 2009 · PMID 19439430not yet assessed
-
Characterisation of psoriasis susceptibility locus 6 (PSORS6) in patients with early onset psoriasis and evidence for interaction with PSORS1 ↗Journal of Medical Genetics · 2009 · PMID 19525279not yet assessed
-
FcγRIIa genotype is associated with acute coronary syndromes as first manifestation of coronary artery disease ↗Atherosclerosis · 2009 · PMID 19232413not yet assessed
-
High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity ↗European Journal of Pain · 2009 · PMID 19167252not yet assessed
-
not yet assessed
-
A novel locus for arterial hypertension on chromosome 1p36 maps to a metabolic syndrome trait cluster in the Sorbs, a Slavic population isolate in Germany* ↗Journal of Hypertension · 2009 · PMID 19373111not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Perinatal Asphyxia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PAP ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Chromosomale Ursachen der geistigen Behinderung ↗Medizinische Genetik · 2009not yet assessed
-
Neue Entwicklungen in der Psoriasisgenetik ↗Medizinische Genetik · 2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PCP ↗2009not yet assessed
-
PMDD ↗2009not yet assessed
-
not yet assessed
-
9p Syndrome ↗2009not yet assessed
-
Plane Warts ↗2009not yet assessed
-
Polyendocrinopathy ↗2009not yet assessed
-
not yet assessed
-
Pigment Gallstones ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PVT ↗2009not yet assessed
-
Paraneoplastic ↗2009not yet assessed
-
PDA ↗2009not yet assessed
-
not yet assessed
-
PFO ↗2009not yet assessed
-
POTS ↗2009not yet assessed
-
not yet assessed
-
4p Syndrome ↗2009not yet assessed
-
Porokeratosis ↗2009not yet assessed
-
PAH1 ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PACD ↗2009not yet assessed
-
Primary Dystonias ↗2009not yet assessed
-
Pilomatrixoma ↗2009not yet assessed
-
PNH ↗2009not yet assessed
-
Partial Albinism ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Pseudo-Obstruction ↗2009not yet assessed
-
not yet assessed
-
Protoporphyria ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PFO ↗2009not yet assessed
-
9p Monosomy ↗2009not yet assessed
-
not yet assessed
-
PC-II ↗2009not yet assessed
-
not yet assessed
-
Pneumonia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PHHI ↗2009not yet assessed
-
not yet assessed
-
Piebaldism ↗2009not yet assessed
-
PA-VSD ↗2009not yet assessed
-
not yet assessed
-
PFIC Type 3 ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Pars Planitis ↗2009not yet assessed
-
Pyridoxine Excess ↗2009not yet assessed
-
PFK Deficiency ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PACNS ↗2009not yet assessed
-
not yet assessed
-
POEMS Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PAF ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Pleural Effusion ↗2009not yet assessed
-
Pendred Syndrome ↗2009not yet assessed
-
PVCs ↗2009not yet assessed
-
Psoriasis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PNET ↗2009not yet assessed
-
Polythelia ↗2009not yet assessed
-
Pityriasis Rosea ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Purpura Rheumatica ↗2009not yet assessed
-
Pyloric Stenosis ↗2009not yet assessed
-
Pneumothorax ↗2009not yet assessed
-
not yet assessed
-
PEPCK Deficiency ↗2009not yet assessed
-
not yet assessed
-
PPCA Deficiency ↗2009not yet assessed
-
Peptic Ulcer ↗2009not yet assessed
-
not yet assessed
-
Pemphigus Vulgaris ↗2009not yet assessed
-
Pyrexia ↗2009not yet assessed
-
PPH ↗2009not yet assessed
-
PDD ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PSC ↗2009not yet assessed
-
Physeal Dysplasia ↗2009not yet assessed
-
not yet assessed
-
PUPPP ↗2009not yet assessed
-
PGK ↗2009not yet assessed
-
Patau Syndrome ↗2009not yet assessed
-
Pellagrosis ↗2009not yet assessed
-
Pierson Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Prosector’s Wart ↗2009not yet assessed
-
Pancreatic Cancer ↗2009not yet assessed
-
not yet assessed
-
PCNSL ↗2009not yet assessed
-
PSVT ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Purtilo Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Progenitor LCH ↗2009not yet assessed
-
PHA-1 ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Pycnodysostosis ↗2009not yet assessed
-
not yet assessed
-
PDCD ↗2009not yet assessed
-
PEO ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PME Type 1 ↗2009not yet assessed
-
not yet assessed
-
Pulmonary Edema ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Pulmonary Embolism ↗2009not yet assessed
-
not yet assessed
-
PCT ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Papillon-Léage ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Pentasomy X ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Psaume ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Periodic Catatonia ↗2009not yet assessed
-
5p Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PFIC Type 1 ↗2009not yet assessed
-
not yet assessed
-
Pheochromocytoma ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PCD Deficiency ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PBGD Deficiency ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PSP ↗2009not yet assessed
-
PJS ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Periodontopathia ↗2009not yet assessed
-
PMD ↗2009not yet assessed
-
not yet assessed
-
PIM ↗2009not yet assessed
-
Pemphigoid ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Progeria Adultorum ↗2009not yet assessed
-
not yet assessed
-
Preauricular Tract ↗2009not yet assessed
-
Perthes' Disease ↗2009not yet assessed
-
not yet assessed
-
Pulmonary Stenosis ↗2009not yet assessed
-
not yet assessed
-
PLS ↗2009not yet assessed
-
Pseudotruncus ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
5p Monosomy ↗2009not yet assessed
-
PAIS ↗2009not yet assessed
-
Polycythemia Rubra Vera ↗2009 · PMID 3540749not yet assessed
-
Paramyotonia ↗2009not yet assessed
-
not yet assessed
-
PBC ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Pulmonary Atresia ↗2009not yet assessed
-
Pigeon Breast ↗2009not yet assessed
-
not yet assessed
-
Pityriasis Alba ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Peridontitis ↗2009not yet assessed
-
not yet assessed
-
PCD ↗2009not yet assessed
-
Pectus Carinatum ↗2009not yet assessed
-
not yet assessed
-
Pyoderma ↗2009not yet assessed
-
not yet assessed
-
Phthisis ↗2009not yet assessed
-
PCLD ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Pigeon Chest ↗2009not yet assessed
-
Primary Lymphedema ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Podagra ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PEM ↗2009not yet assessed
-
PVS ↗2009not yet assessed
-
not yet assessed
-
PCNV ↗2009not yet assessed
-
Pearson Syndrome ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Phytosterolemia ↗2009not yet assessed
-
Pleuritis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PcP ↗2009not yet assessed
-
Pancreas Annulare ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PA/IVS ↗2009not yet assessed
-
PNP Deficiency ↗2009not yet assessed
-
Paraganglioma ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
PAN ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Puna Soroche ↗2009not yet assessed
-
not yet assessed
-
Propionic Acidemia ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Pulmonary Anthrax ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Polychondropathia ↗2009not yet assessed
-
PFIC Type 2 ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
P-LEMS ↗2009not yet assessed
-
not yet assessed
-
Permanent Alopecia ↗2009not yet assessed
-
not yet assessed
-
PKU ↗2009not yet assessed
-
PDC ↗2009not yet assessed
-
Pre-Eclampsia ↗2009not yet assessed
-
PC Deficiency ↗2009not yet assessed
-
not yet assessed
-
Pendred's Syndrome ↗2009not yet assessed
-
Proteinuria ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
PVFS ↗2009not yet assessed
-
not yet assessed
-
Phenylketonuria ↗2009not yet assessed
-
PAD ↗2009not yet assessed
-
not yet assessed
-
PAIVS ↗2009not yet assessed
-
not yet assessed
-
PWS ↗2009not yet assessed
-
not yet assessed
-
PXE ↗2009not yet assessed
-
not yet assessed
-
Pectus Excavatum ↗2009not yet assessed
-
not yet assessed
-
Precocious Puberty ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Plumboporphyria ↗2009not yet assessed
-
not yet assessed
-
Polyorchidism ↗2009not yet assessed
-
PTSD ↗2009not yet assessed
-
PSNP ↗2009not yet assessed
-
not yet assessed
-
Pompe Disease ↗2009not yet assessed
-
Pulmonary Fibrosis ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Pilomatricoma ↗2009not yet assessed
-
PONV ↗2009not yet assessed
-
Preauricular Pit ↗2009not yet assessed
-
Pleurisy ↗2009not yet assessed
-
not yet assessed
-
PHT ↗2009not yet assessed
-
Preauricular Sinus ↗2009not yet assessed
-
PTA ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Peritonitis ↗2009not yet assessed
-
PPCD ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
not yet assessed
-
Platyspondyly ↗2009not yet assessed
-
not yet assessed
-
not yet assessed
-
Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism ↗Science · 2008 · PMID 18174396not yet assessed
-
Identification of ZNF313 / RNF114 as a novel psoriasis susceptibility gene ↗Human Molecular Genetics · 2008 · PMID 18364390not yet assessed
-
Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients ↗American Journal Of Pathology · 2008 · PMID 18974306not yet assessed
-
Genetic Variants of the IL-23R Pathway: Association with Psoriatic Arthritis and Psoriasis Vulgaris, but No Specific Risk Factor for Arthritis ↗Journal of Investigative Dermatology · 2008 · PMID 18800148not yet assessed
-
Association of<i>LOXL1</i>Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma ↗Investigative Ophthalmology & Visual Science · 2008 · PMID 18385063not yet assessed
-
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme ↗Human Mutation · 2008 · PMID 18470941not yet assessed
-
Profiling of<i>WDR36</i>Missense Variants in German Patients with Glaucoma ↗Investigative Ophthalmology & Visual Science · 2008 · PMID 18172102not yet assessed
-
Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson–Mendenhall syndrome ↗Molecular Genetics and Metabolism · 2008 · PMID 18411068not yet assessed
-
A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay ↗European Journal of Medical Genetics · 2008 · PMID 18434272not yet assessed
-
Mutations in the epricentrin (PCNT) gene cause primordial dwarfism2008not yet assessed
-
Psoriasis is associated with increased β-defensin genomic copy number ↗Nature Genetics · 2007 · PMID 18059266not yet assessed
-
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation ↗The American Journal of Human Genetics · 2007 · PMID 17273977not yet assessed
-
Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) ↗The American Journal of Human Genetics · 2007 · PMID 17436255not yet assessed
-
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays ↗Journal of Medical Genetics · 2007 · PMID 17601928not yet assessed
-
Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum ↗The American Journal of Human Genetics · 2007 · PMID 17701897not yet assessed
-
TNF polymorphisms in psoriasis: Association of psoriatic arthritis with the promoter polymorphism <i>TNF</i>*‐<i>857</i> independent of the <i>PSORS1</i> risk allele ↗Arthritis & Rheumatism · 2007 · PMID 17530646not yet assessed
-
Mutation in the Scyl1 gene encoding amino‐terminal kinase‐like protein causes a recessive form of spinocerebellar neurodegeneration ↗EMBO Reports · 2007 · PMID 17571074not yet assessed
-
Loss-of-Function Variants of the Filaggrin Gene Are Not Major Susceptibility Factors for Psoriasis Vulgaris or Psoriatic Arthritis in German Patients ↗Journal of Investigative Dermatology · 2007 · PMID 17255953not yet assessed
-
Neurodevelopmental deficits in Pierson (microcoria‐congenital nephrosis) syndrome ↗American Journal of Medical Genetics Part A · 2007 · PMID 17256789not yet assessed
-
Loss-of-function mutations in the filaggrin gene: no contribution to disease susceptibility, but to autoantibody formation against citrullinated peptides in early rheumatoid arthritis ↗Annals of the Rheumatic Diseases · 2007 · PMID 17704064not yet assessed
-
Functional Characterization of a Novel CFTR Mutation P67S Identified in a Patient with Atypical Cystic Fibrosis ↗Cellular Physiology and Biochemistry · 2007 · PMID 17495464not yet assessed
-
Genetik der Psoriasis ↗Medizinische Genetik · 2007not yet assessed
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation ↗American Journal of Medical Genetics Part A · 2006 · PMID 16917849not yet assessed
-
Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia ↗The American Journal of Human Genetics · 2006 · PMID 17186469not yet assessed
-
Genetic Basis and Pancreatic Biology of Johanson-Blizzard Syndrome ↗Endocrinology and Metabolism Clinics of North America · 2006 · PMID 16632090not yet assessed
-
Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. ↗PubMed · 2006 · PMID 16735994not yet assessed
-
Prenatal findings in four consecutive pregnancies with fetal Pierson syndrome, a newly defined congenital nephrosis syndrome ↗Prenatal Diagnosis · 2006 · PMID 16450351not yet assessed
-
Male Restricted Genetic Association of Variant R620W in PTPN22 with Psoriatic Arthritis ↗Journal of Investigative Dermatology · 2006 · PMID 16456530not yet assessed
-
Genotype–epigenotype–phenotype correlations in females with frontometaphyseal dysplasia ↗American Journal of Medical Genetics Part A · 2006 · PMID 16596676not yet assessed
-
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation ↗European Journal of Medical Genetics · 2006 · PMID 17052965not yet assessed
-
Lack of genetic association of the interleukin‐4 receptor single‐nucleotide polymorphisms I50V and Q551R with erosive disease in psoriatic arthritis ↗Arthritis & Rheumatism · 2006 · PMID 17133536not yet assessed
-
Erratum: Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) ↗Nature Genetics · 2006not yet assessed
-
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) ↗Nature Genetics · 2005 · PMID 16311597not yet assessed
-
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator ↗The American Journal of Human Genetics · 2005 · PMID 16252239not yet assessed
-
Systematic Linkage Disequilibrium Analysis of SLC12A8 at PSORS5 Confirms a Role in Susceptibility to Psoriasis Vulgaris ↗Journal of Investigative Dermatology · 2005 · PMID 16297188not yet assessed
-
Demonstration of two novelLAMB2 mutations in the original Pierson syndrome family reported 42 years ago ↗American Journal of Medical Genetics Part A · 2005 · PMID 16097004not yet assessed
-
Association between protein tyrosine phosphatase 22 variant R620W in conjunction with the HLA–DRB1 shared epitope and humoral autoimmunity to an immunodominant epitope of cartilage‐specific type II collagen in early rheumatoid arthritis ↗Arthritis & Rheumatism · 2005 · PMID 16385499not yet assessed
-
The scoliosis <i>(sco)</i> mouse: a new allele of <i>Pax1</i> ↗Cytogenetic and Genome Research · 2005 · PMID 16093716not yet assessed
-
Lack of Evidence for Genetic Association to RUNX1 Binding Site at PSORS2 in Different German Psoriasis Cohorts ↗Journal of Investigative Dermatology · 2005 · PMID 15654961not yet assessed
-
Fine mapping of autosomal dominant nonsyndromic hearing impairment <i>DFNA21</i> to chromosome 6p24.1‐22.3 ↗American Journal of Medical Genetics Part A · 2005 · PMID 16007628not yet assessed
-
Novel autosomal recessive progressive hyperpigmentation syndrome ↗American Journal of Medical Genetics Part A · 2005 · PMID 15852476not yet assessed
-
The effects of VEGF and VEGFR-2 on survival in patients with gastric cancer ↗Journal of Clinical Oncology · 2005not yet assessed
-
JOHANSON-BLIZZARD SYNDROME IS CAUSED BY MUTATIONS IN UBR1, ENCODING AN E3 UBIQUITIN LIGASE OF THE N-END RULE PATHWAY ↗Pancreas · 2005not yet assessed
-
Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities ↗Human Molecular Genetics · 2004 · PMID 15367484not yet assessed
-
Mutations in Microcephalin Cause Aberrant Regulation of Chromosome Condensation ↗The American Journal of Human Genetics · 2004 · PMID 15199523not yet assessed
-
Genotype-phenotype correlations in Noonan syndrome ↗The Journal of Pediatrics · 2004 · PMID 15001945not yet assessed
-
Severe, neonatal‐onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11) ↗American Journal of Medical Genetics Part A · 2004 · PMID 15578616not yet assessed
-
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome ↗American Journal of Medical Genetics Part A · 2004 · PMID 15372515not yet assessed
-
Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome ↗The American Journal of Human Genetics · 2004 · PMID 15154116not yet assessed
-
A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts ↗The American Journal of Human Genetics · 2004 · PMID 14988809not yet assessed
-
Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse ↗Neurogenetics · 2004 · PMID 15503243not yet assessed
-
Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 ↗Neuromuscular Disorders · 2004 · PMID 15099588not yet assessed
-
Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus ↗Journal of Evolutionary Biology · 2004 · PMID 15009278not yet assessed
-
Amelogenesis Imperfecta in a New Animal Model—a Mutation in Chromosome 5 (human 4q21) ↗Journal of Dental Research · 2004 · PMID 15271968not yet assessed
-
Sphenoid sinus brown tumor, a mass lesion of occipital bone and hypercalcemia: An unusual presentation of primary hyperparathyroidism ↗Journal of Endocrinological Investigation · 2004 · PMID 15233558not yet assessed
-
Malignant struma ovarii: a case report and review of the literature. ↗PubMed · 2004 · PMID 15166470not yet assessed
-
Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien ↗RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren · 2004 · PMID 15088182not yet assessed
-
Self-Healing Collodion Baby: a Dynamic Phenotype Explained by a Particular Transglutaminase-1 Mutation ↗Journal of Investigative Dermatology · 2003 · PMID 12542526not yet assessed
-
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates ↗Human Genetics · 2003 · PMID 12483299not yet assessed
-
Association scan of the novel psoriasis susceptibility region on chromosome 19: evidence for both susceptible and protective loci ↗Experimental Dermatology · 2003 · PMID 12930307not yet assessed
-
Primary Congenital Glaucoma: A Novel Single-Nucleotide Deletion and Varying Phenotypic Expression for the 1546???1555dup Mutation in the GLC3A (CYP1B1) Gene in 2 Families of Different Ethnic Origin ↗Journal of Glaucoma · 2003 · PMID 12567107not yet assessed
-
Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero ( MPZ , P0 ) gene causes different phenotypes in homozygous and heterozygous carriers within one family ↗Neurogenetics · 2003 · PMID 12845552not yet assessed
-
Genome Scan for Childhood and Adolescent Obesity in German Families ↗PEDIATRICS · 2003 · PMID 12563058not yet assessed
-
A novel 5q35.3 subtelomeric deletion syndrome ↗American Journal of Medical Genetics Part A · 2003 · PMID 12900893not yet assessed
-
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP ↗European Journal of Human Genetics · 2003 · PMID 12634865not yet assessed
-
Tumor necrosis factor receptor–associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: Implications for pathogenesis ↗Arthritis & Rheumatism · 2003 · PMID 12905494not yet assessed
-
Interleukin-10 promoter polymorphism IL10.G and familial early onset psoriasis ↗British Journal of Dermatology · 2003 · PMID 12932247not yet assessed
-
Mutation Analysis of the Nijmegen Breakage Syndrome Gene<i>NBS1</i>in Nineteen Patients with Acute Myeloid Leukemia with Complex Karyotypes ↗Leukemia & lymphoma/Leukemia and lymphoma · 2003 · PMID 14738145not yet assessed
-
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger–Huët anomaly) ↗Nature Genetics · 2002 · PMID 12118250not yet assessed
-
A comprehensive linkage analysis for myocardial infarction and its related risk factors ↗Nature Genetics · 2002 · PMID 11818963not yet assessed
-
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity ↗Human Genetics · 2002 · PMID 12384773not yet assessed
-
Familial interstitial 570 kbp deletion of the <i>UBE3A</i> gene region causing Angelman syndrome but not Prader‐Willi syndrome ↗American Journal of Medical Genetics · 2002 · PMID 12210318not yet assessed
-
Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutation ↗Archives of Dermatological Research · 2002 · PMID 12192490not yet assessed
-
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients ↗Human Mutation · 2002 · PMID 12442283not yet assessed
-
V76D mutation in a conserved gD-crystallin region leads to dominant cataracts in mice ↗Mammalian Genome · 2002 · PMID 12226711not yet assessed
-
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1 ↗Human Mutation · 2002 · PMID 12497641not yet assessed
-
Exclusion of the neuronal nicotinic acetylcholine receptor α7 subunit gene as a candidate for catatonic schizophrenia in a large family supporting the chromosome 15q13–22 locus ↗Molecular Psychiatry · 2002 · PMID 11840317not yet assessed
-
Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759 ↗European Journal of Human Genetics · 2002 · PMID 11896452not yet assessed
-
Determinación indirecta, mediante marcadores de ADN, del estado de portadoras de distrofia muscular de Duchenne (DMD) en una familia costarricense2002not yet assessed
-
Genome-Wide Screen for Age-Related Maculopathy in an Isolated Population2002not yet assessed
-
Dissecting the Genetic Component of Complex Diseases in Humans ↗2002 · PMID 12060997not yet assessed
-
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease ↗Nature Genetics · 2001 · PMID 11431690not yet assessed
-
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation ↗American Journal of Medical Genetics · 2001 · PMID 11252005not yet assessed
-
Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). ↗PubMed · 2001 · PMID 11325820not yet assessed
-
Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome ↗European Journal of Human Genetics · 2001 · PMID 11528505not yet assessed
-
A Second Locus for an Axonal Form of Autosomal Recessive Charcot-Marie-Tooth Disease Maps to Chromosome 19q13.3 ↗The American Journal of Human Genetics · 2001 · PMID 11112660not yet assessed
-
A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene ↗Journal of Medical Genetics · 2001 · PMID 11424921not yet assessed
-
Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes ↗Human Mutation · 2001 · PMID 11668616not yet assessed
-
Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation ↗Neuroreport · 2001 · PMID 11234777not yet assessed
-
Epigenetic targeting in the mouse zygote marks DNA for later methylation: a mechanism for maternal effects in development ↗Mechanisms of Development · 2001 · PMID 11335110not yet assessed
-
Characterization of a Mutation in the Lens-specific MP70 Encoding Gene of the Mouse Leading to a Dominant Cataract ↗Experimental Eye Research · 2001 · PMID 11846517not yet assessed
-
Aey2, a new mutation in the betaB2-crystallin-encoding gene of the mouse. ↗PubMed · 2001 · PMID 11381063not yet assessed
-
Characterization of a new, dominant V124E mutation in the mouse alphaA-crystallin-encoding gene. ↗PubMed · 2001 · PMID 11687536not yet assessed
-
Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity ↗The American Journal of Human Genetics · 2001 · PMID 11398099not yet assessed
-
A Novel Form of “Central Pouchlike” Cataract, with Sutural Opacities, Maps to Chromosome 15q21-22 ↗The American Journal of Human Genetics · 2001 · PMID 11133359not yet assessed
-
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain ↗Journal of Medical Genetics · 2001 · PMID 11134242not yet assessed
-
Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 ↗Journal of Medical Genetics · 2001 · PMID 11389160not yet assessed
-
Identification and Localization of a New Human Myotubularin-Related Protein Gene, MTMR8, on 8p22–p23 ↗Genomics · 2001 · PMID 11472061not yet assessed
-
Towards the genetic basis of periodic catatonia: pedigree sample for genome scan I and II ↗European Archives of Psychiatry and Clinical Neuroscience · 2001 · PMID 11776268not yet assessed
-
Comparative association analysis reveals that corneodesmosin is more closely associated with psoriasis than HLA‐Cw*0602‐B*5701 in German families ↗Tissue Antigens · 2001 · PMID 11556968not yet assessed
-
Ethylnitrosourea-Induced Mutation in Mice Leads to the Expression of a Novel Protein in the Eye and to Dominant Cataracts ↗Genetics · 2001 · PMID 11238416not yet assessed
-
Genetic and Clinical Heterogeneity in Transgressive Palmoplantar Keratoderma ↗Journal of Investigative Dermatology · 2001 · PMID 11348480not yet assessed
-
Assignment of PGL3 to chromosome 1 (q21‐q23) in a family with autosomal dominant non‐chromaffin paraganglioma ↗American Journal of Medical Genetics · 2001not yet assessed
-
Genome-wide, large-scale production of mutant mice by ENU mutagenesis ↗Nature Genetics · 2000 · PMID 10932192not yet assessed
-
A major susceptibility locus for atopic dermatitis maps to chromosome 3q21 ↗Nature Genetics · 2000 · PMID 11101848not yet assessed
-
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations ↗European Journal of Human Genetics · 2000 · PMID 11093281not yet assessed
-
Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree ↗The American Journal of Human Genetics · 2000 · PMID 10631142not yet assessed
-
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene ↗European Journal of Human Genetics · 2000 · PMID 10878661not yet assessed
-
Hereditary spastic paraplegia caused by mutations in the SPG4 gene ↗European Journal of Human Genetics · 2000 · PMID 11039577not yet assessed
-
A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 ↗The American Journal of Human Genetics · 2000 · PMID 10631162not yet assessed
-
Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 ↗The American Journal of Human Genetics · 2000 · PMID 11001582not yet assessed
-
Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 ↗The American Journal of Human Genetics · 2000not yet assessed
-
Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36 ↗The American Journal of Human Genetics · 2000 · PMID 10877983not yet assessed
-
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma ↗American Journal of Medical Genetics · 2000 · PMID 11426453not yet assessed
-
Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13 ↗The American Journal of Human Genetics · 2000 · PMID 10986047not yet assessed
-
A Gene for Hypotrichosis Simplex of the Scalp Maps to Chromosome 6p21.3 ↗The American Journal of Human Genetics · 2000 · PMID 10793007not yet assessed
-
Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21) ↗Clinical Otolaryngology · 2000 · PMID 10764236not yet assessed
-
Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13 ↗Journal of Investigative Dermatology · 2000 · PMID 10998140not yet assessed
-
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3 - 8q22.1: Redefining a clinical entity ↗American Journal of Medical Genetics · 2000 · PMID 10842298not yet assessed
-
Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome ↗Clinical Genetics · 2000 · PMID 10852373not yet assessed
-
A European study on the genetics of mite sensitization ↗Journal of Allergy and Clinical Immunology · 2000 · PMID 11080716not yet assessed
-
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria ↗Pediatric Nephrology · 2000 · PMID 10805464not yet assessed
-
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3 ‐ 8q22.1: Redefining a clinical entity ↗American Journal of Medical Genetics · 2000not yet assessed
-
not yet assessed
-
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B ↗Nature Genetics · 1999 · PMID 10508505not yet assessed
-
A Genome-wide Search for Linkage to Asthma22See the Appendix. ↗Genomics · 1999 · PMID 10333435not yet assessed
-
Limb Mammary Syndrome: A New Genetic Disorder with Mammary Hypoplasia, Ectrodactyly, and Other Hand/Foot Anomalies Maps to Human Chromosome 3q27 ↗The American Journal of Human Genetics · 1999 · PMID 9973291not yet assessed
-
Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 ↗The American Journal of Human Genetics · 1999 · PMID 10521314not yet assessed
-
Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity ↗The American Journal of Human Genetics · 1999 · PMID 10577920not yet assessed
-
Nijmegen breakage syndrome: consequences of defective DNA double strand break repair ↗BioEssays · 1999 · PMID 10440861not yet assessed
-
Linkage of Familial Euthyroid Goiter to the Multinodular Goiter-1 Locus and Exclusion of the Candidate Genes Thyroglobulin, Thyroperoxidase, and Na+/I− Symporter* ↗The Journal of Clinical Endocrinology & Metabolism · 1999 · PMID 10523025not yet assessed
-
Mutation in the βA3/A1-Crystallin Encoding Gene Cryba1 Causes a Dominant Cataract in the Mouse ↗Genomics · 1999 · PMID 10585769not yet assessed
-
Hereditary Isolated Renal Magnesium Loss Maps to Chromosome 11q23 ↗The American Journal of Human Genetics · 1999 · PMID 9915957not yet assessed
-
Promoter Polymorphism at –238 of the Tumor Necrosis Factor Alpha Gene is Not Associated with Early Onset Psoriasis when Tested by the Transmission Disequilibrium Test ↗Journal of Investigative Dermatology · 1999 · PMID 10201539not yet assessed
-
Investigation of a Family with Autosomal Dominant Dilated Cardiomyopathy Defines a Novel Locus on Chromosome 2q14-q22 ↗The American Journal of Human Genetics · 1999 · PMID 10486326not yet assessed
-
The Fanconi Anemia Group E Gene, FANCE, Maps to Chromosome 6p ↗The American Journal of Human Genetics · 1999 · PMID 10205272not yet assessed
-
Envoplakin, a Possible Candidate Gene for Focal NEPPK/Esophageal Cancer (TOC): The Integration of Genetic and Physical Maps of the TOC Region on 17q25 ↗Genomics · 1999 · PMID 10409435not yet assessed
-
Cola drinks consumption and oesophagitis* ↗Diseases of the Esophagus · 1999 · PMID 10770368not yet assessed
-
Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14 ↗American Journal of Medical Genetics · 1999 · PMID 10206240not yet assessed
-
Genetics and B-cell leukaemia ↗The Lancet · 1999 · PMID 10023938not yet assessed
-
Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14 ↗American Journal of Medical Genetics · 1999not yet assessed
-
Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage Syndrome ↗Cell · 1998 · PMID 9590180not yet assessed
-
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B ↗Nature Genetics · 1998 · PMID 9697698not yet assessed
-
Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal Diagnosis ↗The American Journal of Human Genetics · 1998 · PMID 9634532not yet assessed
-
A novel in situ method for the detection of deficient transglutaminase activity in the skin ↗Archives of Dermatological Research · 1998 · PMID 9860283not yet assessed
-
Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 ↗The American Journal of Human Genetics · 1998 · PMID 9529351not yet assessed
-
Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis ↗The American Journal of Human Genetics · 1998 · PMID 9545389not yet assessed
-
The Gene for Human Fibronectin Glomerulopathy Maps to 1q32, in the Region of the Regulation of Complement Activation Gene Cluster ↗The American Journal of Human Genetics · 1998 · PMID 9837825not yet assessed
-
Localisation of a Fanconi anaemia gene to chromosome 9p ↗European Journal of Human Genetics · 1998 · PMID 9801875not yet assessed
-
Die kleine Fehlbildung des Mittelohres - ein genetisch bedingter Defekt? ↗HNO · 1998 · PMID 9773333not yet assessed
-
[Prepubertal testicular tumors]. ↗PubMed · 1998 · PMID 9859508not yet assessed
-
New approaches in the diagnosis of lamellar ichthyosis allowing selection of patients for gene analysis and future gene therapy ↗Journal of Dermatological Science · 1998not yet assessed
-
A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees ↗Human Molecular Genetics · 1997 · PMID 9175745not yet assessed
-
Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping ↗Human Genetics · 1997 · PMID 9439671not yet assessed
-
Localization of the Gene Causing Keratolytic Winter Erythema to Chromosome 8p22-p23, and Evidence for a Founder Effect in South African Afrikaans-Speakers ↗The American Journal of Human Genetics · 1997 · PMID 9311742not yet assessed
-
The Gene for Autosomal Dominant Craniometaphyseal Dysplasia Maps to Chromosome 5p and Is Distinct from the Growth Hormone-Receptor Gene ↗The American Journal of Human Genetics · 1997 · PMID 9382103not yet assessed
-
Linkage studies exclude the AT‐V gene(s) from the translocation breakpoints in an AT‐V patient ↗Clinical Genetics · 1997 · PMID 9212178not yet assessed
-
Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome ↗The American Journal of Human Genetics · 1997 · PMID 9245988not yet assessed
-
The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. ↗PubMed · 1997 · PMID 9042920not yet assessed
-
Possible association of the allele status of the CS.7/ Hha I polymorphism 5′ of the CFTR gene with postnatal female survival ↗Human Genetics · 1997 · PMID 9150719not yet assessed
-
P252 Visualization of transglutaminase 1 deficiency in lamellar ichthyosis ↗Journal of the European Academy of Dermatology and Venereology · 1997not yet assessed
-
P242 Visualization of transglutaminase 1 deficiency in lamellar ichthyosis ↗Journal of the European Academy of Dermatology and Venereology · 1997not yet assessed
-
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions ↗American Journal of Medical Genetics · 1996 · PMID 8958335not yet assessed
-
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family ↗Human Genetics · 1996 · PMID 8707310not yet assessed
-
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions ↗American Journal of Medical Genetics · 1996not yet assessed
-
Microsatellite Haplotypes of Polish Cystic Fibrosis Alleles: &Delta;F508 Chromosomes Demonstrate a North-South Haplotype Frequency Gradient ↗Human Heredity · 1996 · PMID 8956026not yet assessed
-
Subject Index Vol. 46, 1996 ↗Human Heredity · 1996not yet assessed
-
Acknowledgement to the Reviewers, Vol. 46, 1996 ↗Human Heredity · 1996not yet assessed
-
Hemossiderose pulmonar idiopatica [Idiopathic pulmonary hemosiderosis]1996not yet assessed
-
Announcement ↗Human Heredity · 1996not yet assessed
-
Author Index Vol. 46, 1996 ↗Human Heredity · 1996not yet assessed
-
Palmoplantar Keratoderma in Association with Carcinoma of the Esophagus Maps to Chromosome 17q Distal to the Keratin Gene Cluster ↗Genomics · 1995 · PMID 8666405not yet assessed
-
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster ↗Human Molecular Genetics · 1995 · PMID 7544663not yet assessed
-
Keratosis palmoplantaris diffusa V�rner Klinische, formalgenetische und molekularbiologische Untersuchungen bei 22?Familien ↗Der Hautarzt · 1995 · PMID 7499131not yet assessed
-
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene ↗Human Molecular Genetics · 1995 · PMID 7581390not yet assessed
-
Pancreatic insufficiency and pulmonary disease in German and Slavic cystic fibrosis patients with the R347P mutation ↗Human Mutation · 1995 · PMID 8535440not yet assessed
-
The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1. ↗PubMed · 1995 · PMID 7573059not yet assessed
-
Fructose-1,6-Bisphosphatase: Genetic and Physical Mapping to Human Chromosome 9q22.3 and Evaluation in Non-Insulin-Dependent Diabetes Mellitus ↗Genomics · 1995 · PMID 8530070not yet assessed
-
Keratosis palmoplantaris striata Brünauer-Fuhs-Siemens: klinische, lipidbiochemische und molekularbiologische UntersuchungenH&G Zeitschrift für Hautkrankheiten · 1995not yet assessed
-
Epidermolytic palmoplantar keratoderma of Vorner. Clinical features, formal genetics, and molecular biological findings in 22 familiesDer Hautarzt · 1995not yet assessed
-
The origin of the major cystic fibrosis mutation (ΔF508) in European populations ↗Nature Genetics · 1994 · PMID 7920636not yet assessed
-
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) ↗Nature Genetics · 1994 · PMID 7512862not yet assessed
-
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. ↗PubMed · 1994 · PMID 8178815not yet assessed
-
Down syndrome and male fertility: PCR‐derived fingerprinting, serological and andrological investigations ↗Clinical Genetics · 1994 · PMID 7834902not yet assessed
-
Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia ↗Blood · 1994 · PMID 8180378not yet assessed
-
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma ↗Human Genetics · 1994 · PMID 7516304not yet assessed
-
Analysis of 133 Meioses Places the Genes for Nevoid Basal Cell Carcinoma (Gorlin) Syndrome and Fanconi Anemia Group C in a 2.6-cM Interval and Contributes to the Fine Map of 9q22.3 ↗Genomics · 1994 · PMID 7835901not yet assessed
-
Trinucleotide repeat polymorphism at the PKLR locus ↗Human Molecular Genetics · 1994 · PMID 8012373not yet assessed
-
A YAC Contig Spanning the Nevoid Basal Cell Carcinoma Syndrome, Fanconi Anaemia Group C, and Xeroderma Pigmentosum Group A Loci on Chromosome 9q ↗Genomics · 1994 · PMID 7829076not yet assessed
-
The critical region for Angelman syndrome lies between D15S122 and D15S113 ↗American Journal of Medical Genetics · 1994 · PMID 7864058not yet assessed
-
not yet assessed
-
Molecular and clinical heterogeneity in palmoplantar keratoderma (PPK)The American Journal of Human Genetics · 1994not yet assessed
-
Environmental trichlorfon and cluster of congenital abnormalities ↗The Lancet · 1993 · PMID 8094783not yet assessed
-
Exclusion of the GABAA-receptor β3 subunit gene as the Angelman's syndrome gene ↗The Lancet · 1993 · PMID 8093396not yet assessed
-
Three dinucleotide microsatellite polymorphisms on human chromosome 13 ↗Human Molecular Genetics · 1993 · PMID 8490630not yet assessed
-
Linkage analysis in German breast cancer families with early onset of the disease, using highly polymorphic markers from the chromosome 17q11-q24 region. ↗PubMed · 1993 · PMID 8460645not yet assessed
-
Dinucleotide repeat polymorphism at the locus D13S231 ↗Human Molecular Genetics · 1993 · PMID 8364558not yet assessed
-
not yet assessed
-
Localisation of gene for the naevoid basal-cell carcinoma syndrome ↗The Lancet · 1992 · PMID 1347116not yet assessed
-
Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12?q21 ↗Human Genetics · 1992 · PMID 1385292not yet assessed
-
Missense variations in the cystic fibrosis gene: heteroduplex formation in the F508C mutation. ↗PubMed · 1992 · PMID 1384326not yet assessed
-
Band-specific localization of the microsatellite at D13S71 by microdissection and enzymatic amplification. ↗PubMed · 1992 · PMID 1570832not yet assessed
-
Ectopic transcription of the parathyroid hormone gene in lymphocytes, lymphoblastoid cells and tumour tissue ↗Journal of Endocrinology · 1992 · PMID 1474331not yet assessed
-
Genetic influences in the formation of nasal polyps ↗The Lancet · 1991 · PMID 1678049not yet assessed
-
Characterisation of a Xp21 microdeletion syndrome in a 2-year-old boy with muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenita ↗Human Genetics · 1991 · PMID 1999345not yet assessed
-
The direct early diagnosis of cystic fibrosis by the detection of the deltaF508 CFTR gene mutation in a prematurely delivered boy ↗Clinical Genetics · 1991 · PMID 1709842not yet assessed
-
Genotype-Phenotype Correlations in Cystic Fibrosis Patients ↗Advances in experimental medicine and biology · 1991 · PMID 1719773not yet assessed
-
not yet assessed
-
not yet assessed
-
Frequency of the Delta-F508 Mutation and Flanking Marker Haplotypes at the Cystic Fibrosis Locus from 167 Czech Families ↗Advances in experimental medicine and biology · 1991 · PMID 1950752not yet assessed
-
not yet assessed
-
Cloning and sequence analysis of the human parathyroid hormone gene region ↗Human Genetics · 1990 · PMID 2298446not yet assessed
-
Genotype analysis of cystic fibrosis patients in relation to pancreatic sufficiency ↗The Lancet · 1990 · PMID 1690328not yet assessed
-
Distribution patterns of the ΔF508 mutation in the CFTR gene on CF-linked marker haplotypes in the German population ↗Human Genetics · 1990 · PMID 2210758not yet assessed
-
Frequency of the ΔF508 mutation and flanking marker haplotypes at the CF locus from 167 Czech families ↗Human Genetics · 1990 · PMID 2210755not yet assessed
-
Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1RePEc: Research Papers in Economics ·not yet assessed
Full bibliography from OpenAlex; reproducibility verdicts matched by PMID.
Author attribution follows OpenAlex disambiguation, which is imperfect — a researcher's papers can be split across profiles or mixed with a namesake.
Merged across profiles sharing this ORCID where present. See every “Reis A” paper on PubMed ↗