Ingo Kurth

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.

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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 (4)

• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
  2025 L1 76/100
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findi
  2024 L1 87/100
• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  2010 L1 No computation
• Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
  2008 L1 70/100

4 assessed by us (2 reproduced) · 258 not yet assessed — every PubMed paper on record, linked below.

• Exome and genome sequencing for the diagnosis of rare diseases ↗

  Deutsches Ärzteblatt international · 2026 · PMID 41854161
  not yet assessed
• Foundation-model-guided radiogenomic discovery linking cancer genomes to cancer scans ↗

  arXiv (Cornell University) · 2026
  not yet assessed
• Foundation-model-guided radiogenomic discovery linking cancer genomes to cancer scans

  arXiv (Cornell University) · 2026
  not yet assessed
• Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort ↗

  Blood Advances · 2025 · PMID 39938003
  not yet assessed
• Expanding the Genetic and Phenotypic Spectrum of <scp> <i>POLRMT</i> </scp> ‐Related Mitochondrial Disease ↗

  Clinical Genetics · 2025 · PMID 40583167
  not yet assessed
• Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants ↗

  NAR Genomics and Bioinformatics · 2025 · PMID 40708850
  not yet assessed
• Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies ↗

  medRxiv · 2025 · PMID 40950445
  not yet assessed
• BPS2025 - Brain malformations and seizures by impaired function of TRiC chaperonin folding machinery ↗

  Biophysical Journal · 2025
  not yet assessed
• BPS2025 - Brain malformations and seizures by impaired function of TRiC chaperonin folding machinery ↗

  Biophysical Journal · 2025
  not yet assessed
• Neue SCN11A-Variante p.Tyr66Ser: Klinisch-funktionelle Pathogenitätsdiskussion im Kontext von Small Fiber Dysfunktion ↗

  Nervenheilkunde · 2025
  not yet assessed
• Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors ↗

  BMC Genomics · 2025 · PMID 40087590
  not yet assessed
• Humangenetische Diagnostik bei onkologischen Erkrankungen ↗

  InFo Hämatologie + Onkologie · 2025
  not yet assessed
• Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain ↗

  Neuropediatrics · 2025 · PMID 40294637
  not yet assessed
• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  Nature Genetics · 2025 · PMID 40555819
  L1 76/100
• Humangenetische Diagnostik bei onkologischen Erkrankungen ↗

  Uro-News · 2025
  not yet assessed
• Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders ↗

  Blood Cancer Journal · 2025 · PMID 40854872
  not yet assessed
• Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene ↗

  Neurogenetics · 2025 · PMID 40874960
  not yet assessed
• Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction ↗

  The Journal of General Physiology · 2025 · PMID 41134538
  not yet assessed
• Genolator: A Multimodal Large Language Model Fusing Natural Language, Genomic, and Structural Tokens for Protein Function Interpretation ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025
  not yet assessed
• Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• Brain malformations and seizures by impaired function of TRiC chaperonin folding machinery

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies ↗

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders ↗

  RWTH Publications (RWTH Aachen) · 2025
  not yet assessed
• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

  Nature Genetics · 2024 · PMID 39039281
  L1 87/100
• Brain malformations and seizures by impaired chaperonin function of TRiC ↗

  Science · 2024 · PMID 39480921
  not yet assessed
• NaV1.8/NaV1.9 double deletion mildly affects acute pain responses in mice ↗

  Pain · 2024 · PMID 39382328
  not yet assessed
• CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants ↗

  BMC Bioinformatics · 2024 · PMID 39690401
  not yet assessed
• Complex structural variation and nonsense variant <i>in trans</i> cause <i>VPS50</i>-related disorder ↗

  Journal of Medical Genetics · 2024 · PMID 38876772
  not yet assessed
• Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia ↗

  Genetics in Medicine · 2024 · PMID 38641995
  not yet assessed
• Label-free single-cell RNA multiplexing leveraging genetic variability ↗

  Nature Communications · 2024 · PMID 39638798
  not yet assessed
• Humangenetische Diagnostik bei onkologischen Erkrankungen ↗

  Die Onkologie · 2024
  not yet assessed
• Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study ↗

  Clinical Genetics · 2024 · PMID 39663844
  not yet assessed
• Systematic assessment of COVID-19 host genetics using whole genome sequencing data ↗

  PLoS Pathogens · 2024 · PMID 39715278
  not yet assessed
• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗

  Research Square · 2024 · PMID 38903062
  not yet assessed
• Molecular architecture of human dermal sleeping nociceptors ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• Stand der humangenetischen Versorgung in der Pädiatrie ↗

  Pädiatrie · 2024
  not yet assessed
• Phenotype spectrum of idiopathic small fiber neuropathies – Experience from a prospective registry study (n &gt; 200) ↗

  Clinical Neurophysiology · 2024
  not yet assessed
• Mutational Constraint Analysis Workflow for Overlapping Short Open Reading Frames and Genomic Neighbours ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder ↗

  Neuropediatrics · 2024
  not yet assessed
• Utilizing protein structure graph embeddings to predict the pathogenicity of missense variants ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2024
  not yet assessed
• Author response for "Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study" ↗

  2024
  not yet assessed
• Author response for "Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study" ↗

  2024
  not yet assessed
• Aberrant phase separation and nucleolar dysfunction in rare genetic diseases ↗

  Nature · 2023 · PMID 36755093
  not yet assessed
• A second update on mapping the human genetic architecture of COVID-19 ↗

  Nature · 2023 · PMID 37674002
  not yet assessed
• Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy ↗

  Nature · 2023 · PMID 37225994
  not yet assessed
• Single-cell, whole-embryo phenotyping of mammalian developmental disorders ↗

  Nature · 2023 · PMID 37968388
  not yet assessed
• Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria ↗

  HemaSphere · 2023 · PMID 37096215
  not yet assessed
• Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies ↗

  Brain · 2023 · PMID 37769650
  not yet assessed
• Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI ↗

  Translational Psychiatry · 2023 · PMID 36797233
  not yet assessed
• Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach ↗

  Clinical Epigenetics · 2023 · PMID 36859312
  not yet assessed
• DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation ↗

  Blood Cancer Journal · 2023 · PMID 37160870
  not yet assessed
• Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity ↗

  Genome Medicine · 2023 · PMID 38031187
  not yet assessed
• Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco ↗

  Bone Reports · 2023 · PMID 37214758
  not yet assessed
• Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort ↗

  Journal of Neuromuscular Diseases · 2023 · PMID 37424474
  not yet assessed
• Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels ↗

  Pflügers Archiv - European Journal of Physiology · 2023 · PMID 37695396
  not yet assessed
• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases ↗

  medRxiv · 2023 · PMID 37503210
  not yet assessed
• Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings ↗

  medRxiv · 2023
  not yet assessed
• 3-jähriger Patient mit bilateralen Wilms-Tumoren ↗

  Monatsschrift Kinderheilkunde · 2023
  not yet assessed
• No cure, no care? Diagnostic and therapeutic challenges in rare neuropathic pain syndromes ↗

  Journal of Affective Disorders Reports · 2023
  not yet assessed
• Additional file 1 of Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach ↗

  Figshare · 2023
  not yet assessed
• Additional file 1 of Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity ↗

  Open MIND · 2023
  not yet assessed
• Detailed stratified GWAS analysis for severe COVID-19 in four European populations ↗

  Human Molecular Genetics · 2022 · PMID 35848942
  not yet assessed
• Adult human kidney organoids originate from CD24+ cells and represent an advanced model for adult polycystic kidney disease ↗

  Nature Genetics · 2022 · PMID 36303074
  not yet assessed
• Genetic pain loss disorders ↗

  Nature Reviews Disease Primers · 2022 · PMID 35710757
  not yet assessed
• ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model ↗

  The American Journal of Human Genetics · 2022 · PMID 35907405
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling ↗

  Frontiers in Immunology · 2022 · PMID 36591270
  not yet assessed
• Hereditary Sensory and Autonomic Neuropathy ↗

  Neurology India · 2022 · PMID 35263888
  not yet assessed
• Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39 ↗

  Journal of Neurology · 2022 · PMID 35947152
  not yet assessed
• Genetic (re-)evaluation to optimize the care of adults with intellectual disability ↗

  Deutsches Ärzteblatt international · 2022 · PMID 36892325
  not yet assessed
• Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy ↗

  Genes · 2022 · PMID 36553623
  not yet assessed
• Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives ↗

  Endocrine Connections · 2022 · PMID 36064195
  not yet assessed
• Germline Variants in <i>MDM4</i> Cause a Disorder of p53 Dysregulation and Insufficient Telomere Maintenance ↗

  Blood · 2022
  not yet assessed
• Genetics meets function in sodium channel-related pain disorders ↗

  e-Neuroforum · 2022
  not yet assessed
• Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling ↗

  Clinical Case Reports · 2022 · PMID 35280089
  not yet assessed
• A polymorphic AT-repeat causes frequent allele dropout for an <i>MME</i> mutational hotspot exon ↗

  Journal of Medical Genetics · 2022 · PMID 35318247
  not yet assessed
• Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder ↗

  Research Square · 2022
  not yet assessed
• Nanopore Sequencing-Based High-Resolution Karyotyping Compared to Conventional Karyotyping in Patients with Acute Myeloid Leukemia ↗

  Blood · 2022
  not yet assessed
• Isolation and transfection of myenteric neurons from mice for patch-clamp applications ↗

  Frontiers in Molecular Neuroscience · 2022 · PMID 36618826
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven

  RWTH Publications (RWTH Aachen) · 2022
  not yet assessed
• Mapping the human genetic architecture of COVID-19 ↗

  Nature · 2021 · PMID 34237774
  not yet assessed
• Swarm Learning for decentralized and confidential clinical machine learning ↗

  Nature · 2021 · PMID 34040261
  not yet assessed
• Early IFN-α signatures and persistent dysfunction are distinguishing features of NK cells in severe COVID-19 ↗

  Immunity · 2021 · PMID 34592166
  not yet assessed
• Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study ↗

  Therapeutic Advances in Neurological Disorders · 2021 · PMID 34335876
  not yet assessed
• Characterization of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Infection Clusters Based on Integrated Genomic Surveillance, Outbreak Analysis and Contact Tracing in an Urban Setting ↗

  Clinical Infectious Diseases · 2021 · PMID 34181711
  not yet assessed
• The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells ↗

  Scientific Reports · 2021 · PMID 33767215
  not yet assessed
• Genome sequencing in families with congenital limb malformations ↗

  Human Genetics · 2021 · PMID 34159400
  not yet assessed
• C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation ↗

  Journal of Clinical Investigation · 2021 · PMID 33945503
  not yet assessed
• Germline variants in DNA repair genes, including <i>BRCA1</i>/<i>2</i>, may cause familial myeloproliferative neoplasms ↗

  Blood Advances · 2021 · PMID 34477817
  not yet assessed
• Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability ↗

  European Journal of Human Genetics · 2021 · PMID 34413497
  not yet assessed
• Unusual phenotypes in patients with a pathogenic germline variant in DICER1 ↗

  Familial Cancer · 2021 · PMID 34331184
  not yet assessed
• Assessing the impact of pain-linked Nav1.7 variants: An example of two variants with no biophysical effect ↗

  Channels · 2021 · PMID 33487118
  not yet assessed
• Alveolar capillary dysplasia without misalignment of pulmonary veins, hyperinflammation, megalocornea and overgrowth – Association with a homozygous 2bp-insertion in LTBP2? ↗

  European Journal of Medical Genetics · 2021 · PMID 33766794
  not yet assessed
• Detailed stratified GWAS analysis for severe COVID-19 in four European populations ↗

  medRxiv · 2021
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• A human multisystem disorder with autoinflammation, leukoencephalopathy and hepatopathy is caused by mutations in <i>C2orf69</i> ↗

  medRxiv · 2021
  not yet assessed
• Recurrent abdominal pain in hereditary sensory autonomic neuropathy type II (HSAN-II) ↗

  Revue Neurologique · 2021 · PMID 34229871
  not yet assessed
• Table 5. [Notable WNK1 Pathogenic Variants].

  2021
  not yet assessed
• Table 3. [Allelic Disorders to Consider in...].

  2021
  not yet assessed
• Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry ↗

  Blood · 2021
  not yet assessed
• Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen ↗

  Monatsschrift Kinderheilkunde · 2021
  not yet assessed
• Plasma 1-deoxy-sphingolipid Levels and (Para) clinical Correlations in 100 Idiopathic Small Fiber Neuropathy Patients (4883) ↗

  Neurology · 2021
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2021
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2021
  not yet assessed
• Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell epitope mapping ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2021
  not yet assessed
• Corrigendum to: Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.

  RWTH Publications (RWTH Aachen) · 2021
  not yet assessed
• Severe COVID-19 Is Marked by a Dysregulated Myeloid Cell Compartment ↗

  Cell · 2020 · PMID 32810438
  not yet assessed
• Longitudinal Multi-omics Analyses Identify Responses of Megakaryocytes, Erythroid Cells, and Plasmablasts as Hallmarks of Severe COVID-19 ↗

  Immunity · 2020 · PMID 33296687
  not yet assessed
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder ↗

  Brain · 2020 · PMID 32761064
  not yet assessed
• Long-read sequencing to understand genome biology and cell function ↗

  The International Journal of Biochemistry & Cell Biology · 2020 · PMID 32629027
  not yet assessed
• Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles ↗

  Brain · 2020 · PMID 32779703
  not yet assessed
• The genetic landscape of axonal neuropathies in the middle-aged and elderly ↗

  Neurology · 2020 · PMID 33144514
  not yet assessed
• Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) ↗

  Orphanet Journal of Rare Diseases · 2020 · PMID 32513286
  not yet assessed
• Balance between macrophage migration inhibitory factor and sCD74 predicts outcome in patients with acute decompensation of cirrhosis ↗

  JHEP Reports · 2020 · PMID 33659891
  not yet assessed
• Differential diagnosis of vacuolar myopathies in the NGS era ↗

  Brain Pathology · 2020 · PMID 32419263
  not yet assessed
• Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important ↗

  Journal of Molecular Medicine · 2020 · PMID 32839827
  not yet assessed
• Inherited cases of <scp><i>CNOT3</i></scp>‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies ↗

  Clinical Genetics · 2020 · PMID 32720325
  not yet assessed
• Gain-of-function mutation in SCN11A causes itch and affects neurogenic inflammation and muscle function in Scn11a+/L799P mice ↗

  PLoS ONE · 2020 · PMID 32817686
  not yet assessed
• Peripheral sensory neuropathies – pain loss vs. pain gain ↗

  Medizinische Genetik · 2020
  not yet assessed
• Peripheral Neuropathies ↗

  Medizinische Genetik · 2020
  not yet assessed
• P40 Autosomal dominant centronuclear myopathy caused by a heterozygous stop-mutation in BIN1 – A case report ↗

  Clinical Neurophysiology · 2020
  not yet assessed
• Mono- und epigenetische Ursachen von Wachstums- und Gedeihstörungen

  2020
  not yet assessed
• Loss of costameric supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

  RWTH Publications (RWTH Aachen) · 2020
  not yet assessed
• Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 ↗

  Nature Communications · 2019 · PMID 31664039
  not yet assessed
• DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans ↗

  Journal of Clinical Investigation · 2019 · PMID 30620338
  not yet assessed
• Germline <i>GPR161</i> Mutations Predispose to Pediatric Medulloblastoma ↗

  Journal of Clinical Oncology · 2019 · PMID 31609649
  not yet assessed
• Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia ↗

  Experimental Neurology · 2019 · PMID 31132363
  not yet assessed
• A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways ↗

  Cellular and Molecular Life Sciences · 2019 · PMID 30666337
  not yet assessed
• Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations ↗

  PLoS ONE · 2019 · PMID 30730978
  not yet assessed
• A Novel Gain-of-Function Nav1.9 Mutation in a Child With Episodic Pain ↗

  Frontiers in Neuroscience · 2019 · PMID 31551682
  not yet assessed
• Long-read sequencing in human genetics ↗

  Medizinische Genetik · 2019
  not yet assessed
• Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition ↗

  European Journal of Paediatric Neurology · 2019 · PMID 31810576
  not yet assessed
• Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation ↗

  Clinical Epigenetics · 2019 · PMID 30770769
  not yet assessed
• A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability ↗

  European Journal of Medical Genetics · 2019 · PMID 31857255
  not yet assessed
• Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations ↗

  Frontiers in Neurology · 2019 · PMID 31824402
  not yet assessed
• PDE10A mutation in two sisters with a hyperkinetic movement disorder - Response to levodopa ↗

  Parkinsonism & Related Disorders · 2019 · PMID 30777652
  not yet assessed
• Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia ↗

  Bone · 2019 · PMID 31325655
  not yet assessed
• Contribution of GRB10 to the prenatal phenotype in Silver-Russell syndrome? Lessons from 7p12 copy number variations ↗

  European Journal of Medical Genetics · 2019 · PMID 31100449
  not yet assessed
• Genetic Variants in the Promoter Region of the Macrophage Migration Inhibitory Factor are Associated with the Severity of Hepatitis C Virus-Induced Liver Fibrosis ↗

  International Journal of Molecular Sciences · 2019 · PMID 31370326
  not yet assessed
• Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C&gt;A variation in the SCN10A gene potentially associated with small fiber neuropathy ↗

  Stem Cell Research · 2019 · PMID 30731422
  not yet assessed
• Human Genetics of Pain ↗

  Oxford University Press eBooks · 2019
  not yet assessed
• Differential diagnosis of vacuolar myopathies in the NGS era ↗

  Nervenheilkunde · 2019
  not yet assessed
• Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Myopathie mit trabekulären Fasern bei homozygoter COL6A3 Spleiß-Variante ↗

  Nervenheilkunde · 2019
  not yet assessed
• Mutationen in DEGS1 führen zu einer neuen Sphingolipiderkrankung mit Beteiligung des zentralen und peripheren Nervensystems ↗

  Nervenheilkunde · 2019
  not yet assessed
• Episodic Pain Syndrome Associated with a Novel Heterozygous Gain-of-Function SCN11A Missense Mutation ↗

  Neuropediatrics · 2019
  not yet assessed
• Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy

  RWTH Publications (RWTH Aachen) · 2019
  not yet assessed
• Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors ↗

  EBioMedicine · 2018 · PMID 30503201
  not yet assessed
• Hereditary Neuropathies ↗

  Deutsches Ärzteblatt international · 2018 · PMID 29478438
  not yet assessed
• Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution ↗

  Human Molecular Genetics · 2018 · PMID 30339187
  not yet assessed
• Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita ↗

  Leukemia · 2018 · PMID 29749397
  not yet assessed
• Recessive mutations in the neuronal isoforms of <i>DST</i>, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI ↗

  Human Mutation · 2018 · PMID 30371979
  not yet assessed
• Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering ↗

  Cell Reports · 2018 · PMID 29768202
  not yet assessed
• MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy ↗

  PLoS ONE · 2018 · PMID 30059548
  not yet assessed
• No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria ↗

  BMC Nephrology · 2018 · PMID 30342472
  not yet assessed
• Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers ↗

  European Journal of Human Genetics · 2018 · PMID 30218098
  not yet assessed
• Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen ↗

  Der Internist · 2018 · PMID 30564884
  not yet assessed
• Search for altered imprinting marks in Mayer–Rokitansky–Küster–Hauser patients ↗

  Molecular Genetics & Genomic Medicine · 2018 · PMID 30099855
  not yet assessed
• Familial <i>NEDD4L</i> variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures ↗

  Molecular Genetics & Genomic Medicine · 2018 · PMID 30393983
  not yet assessed
• A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) ↗

  Neuro-Ophthalmology · 2018 · PMID 31741675
  not yet assessed
• Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation ↗

  Neuromuscular Disorders · 2018 · PMID 30389422
  not yet assessed
• Rationaler Einsatz genetischer Tests in der Inneren Medizin ↗

  Der Internist · 2018 · PMID 29946883
  not yet assessed
• Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2018
  not yet assessed
• Next Generation Sequencing (NGS) von DNA ↗

  2018
  not yet assessed
• Rationaler Einsatz genetischer Tests in der Inneren Medizin: Möglichkeiten und Limitationen der Next-generation-sequencing-Diagnostik

  Der Internist · 2018
  not yet assessed
• Genetic abnormalities in bicuspid aortic valve root phenotype: preliminary results† ↗

  European Journal of Cardio-Thoracic Surgery · 2017 · PMID 28387797
  not yet assessed
• Noncoding copy-number variations are associated with congenital limb malformation ↗

  Genetics in Medicine · 2017 · PMID 29236091
  not yet assessed
• Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot ↗

  Neurogenetics · 2017 · PMID 28289907
  not yet assessed
• Posterior column ataxia with retinitis pigmentosa coexisting with sensory‐autonomic neuropathy and leukemia due to the homozygous p.Pro221Ser <i>FLVCR1</i> mutation ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2017 · PMID 28766925
  not yet assessed
• The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism? ↗

  Molecular Genetics & Genomic Medicine · 2017 · PMID 29178649
  not yet assessed
• Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene ↗

  The Indian Journal of Pediatrics · 2017 · PMID 28050684
  not yet assessed
• Uniparental disomy as an unexpected cause of Meckel–Gruber syndrome: report of a case ↗

  Pediatric Nephrology · 2017 · PMID 28620746
  not yet assessed
• Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis? ↗

  Pediatric Neurology · 2017 · PMID 28739362
  not yet assessed
• Sensory neuropathy-causing mutations in ATL3 cause aberrant ER membrane tethering ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2017
  not yet assessed
• Novel Homozygous Missense Mutation in ALDH7A1 Causes Neonatal Pyridoxine-Dependent Epilepsy ↗

  Neuropediatrics · 2017
  not yet assessed
• Detection of a homozygosity of a new nonsense mutation in the P5 ' N-1 coding gene in a case of pyrimidine-5-nucleotidase deficiency after thorough cytological diagnostic

  RWTH Publications (RWTH Aachen) · 2017
  not yet assessed
• Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy ↗

  European Journal of Paediatric Neurology · 2017
  not yet assessed
• Formation of new chromatin domains determines pathogenicity of genomic duplications ↗

  Nature · 2016 · PMID 27706140
  not yet assessed
• Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis ↗

  Nature Genetics · 2016 · PMID 27455348
  not yet assessed
• Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception ↗

  PLoS Genetics · 2016 · PMID 27923065
  not yet assessed
• Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency ↗

  Neuropediatrics · 2016 · PMID 28024309
  not yet assessed
• Isolation and Primary Cell Culture of Mouse Dorsal Root Ganglion Neurons ↗

  BIO-PROTOCOL · 2016
  not yet assessed
• Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy ↗

  Molecular and Cellular Probes · 2016 · PMID 27856333
  not yet assessed
• Mutations in <i><scp>CRLF1</scp></i> cause familial achalasia ↗

  Clinical Genetics · 2016 · PMID 27976805
  not yet assessed
• Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic <i>NTRK1‐</i>mutation due to uniparental disomy ↗

  American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2016 · PMID 27184211
  not yet assessed
• Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report ↗

  Translational Neurodegeneration · 2016 · PMID 28035283
  not yet assessed
• Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool ↗

  Gene · 2016 · PMID 27259663
  not yet assessed
• Soziale Unterstützung bei genitalangleichender Operation ↗

  Der Urologe · 2016 · PMID 27830287
  not yet assessed
• Regulation of endoplasmic reticulum turnover by selective autophagy ↗

  Nature · 2015 · PMID 26040720
  not yet assessed
• Transcriptional regulator PRDM12 is essential for human pain perception ↗

  Nature Genetics · 2015 · PMID 26005867
  not yet assessed
• In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 ↗

  PLoS Genetics · 2015 · PMID 26284655
  not yet assessed
• Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant ↗

  Nature Communications · 2015 · PMID 26645915
  not yet assessed
• Hereditary Sensory and Autonomic Neuropathy Type II

  Europe PMC (PubMed Central) · 2015
  not yet assessed
• Sensorisch-autonome Neuropathien und Natriumkanal-assoziierte Schmerzerkrankungen ↗

  Der Schmerz · 2015 · PMID 26219509
  not yet assessed
• Erratum: The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P ↗

  European Journal of Human Genetics · 2015
  not yet assessed
• Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception ↗

  Nature Genetics · 2015 · PMID 26220135
  not yet assessed
• Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

  54th ESPE Meeting (ESPE 2015) · 2015
  not yet assessed
• Table 4. [Selected FAM134B Allelic Variants].

  2015
  not yet assessed
• Table 2. [Comparison of HSAN/Sensory Neuropathy Subtypes].

  2015
  not yet assessed
• Table 5. [Selected KIF1A Pathogenic Variants].

  2015
  not yet assessed
• Table 6. [Selected SCN9A Pathogenic Variant].

  2015
  not yet assessed
• Table 3. [Selected WKN1 Pathogenic Variants].

  2015
  not yet assessed
• Table 1. [Summary of Molecular Genetic Testing Used in Hereditary Sensory and Autonomic Neuropathy Type II].

  2015
  not yet assessed
• Faculty Opinions recommendation of Selective conversion of fibroblasts into peripheral sensory neurons. ↗

  Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2015
  not yet assessed
• Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 ↗

  Brain · 2014 · PMID 24459106
  not yet assessed
• The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P ↗

  European Journal of Human Genetics · 2014 · PMID 25118027
  not yet assessed
• Membrane-shaping disorders: a common pathway in axon degeneration ↗

  Brain · 2014 · PMID 25281866
  not yet assessed
• Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation ↗

  Journal of Investigative Dermatology · 2014 · PMID 24577405
  not yet assessed
• Mosaike bei monogenen Erkrankungen ↗

  Medizinische Genetik · 2014
  not yet assessed
• A spastic paraplegia mouse model reveals REEP1-dependent ER shaping ↗

  Journal of Clinical Investigation · 2014
  not yet assessed
• Mit E-Zigaretten zum Exraucher ↗

  Der Urologe · 2014
  not yet assessed
• Increased Activity of Nav1.9 Sodium Channels Causes Loss of Pain Perception ↗

  Biophysical Journal · 2014
  not yet assessed
• Early Onset Hereditary Spastic Paraplegia in Childhood: A Remarkable Differential Diagnosis in Children with Gait Problems ↗

  Neuropediatrics · 2014
  not yet assessed
• Sensory Autonomic Neuropathy with Analgesia and Gastroenterological Symptoms due to a Mutation in the SCN11A Gene ↗

  Neuropediatrics · 2014
  not yet assessed
• Mutation im Natriumkanal: fehlende Schmerzempfindung ↗

  Journal Club Schmerzmedizin · 2014
  not yet assessed
• A de novo gain-of-function mutation in SCN11A causes loss of pain perception ↗

  Nature Genetics · 2013 · PMID 24036948
  not yet assessed
• Renal intercalated cells are rather energized by a proton than a sodium pump ↗

  Proceedings of the National Academy of Sciences · 2013 · PMID 23610411
  not yet assessed
• A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System ↗

  PLoS Genetics · 2013 · PMID 24367272
  not yet assessed
• A spastic paraplegia mouse model reveals REEP1-dependent ER shaping ↗

  Journal of Clinical Investigation · 2013 · PMID 24051375
  not yet assessed
• Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction ↗

  The American Journal of Human Genetics · 2013 · PMID 24035193
  not yet assessed
• <i>CLCN7</i> and <i>TCIRG1</i> Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals ↗

  Journal of Bone and Mineral Research · 2013 · PMID 24108692
  not yet assessed
• Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V ↗

  The American Journal of Human Genetics · 2012 · PMID 22703882
  not yet assessed
• Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies ↗

  The American Journal of Human Genetics · 2012 · PMID 22770980
  not yet assessed
• Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly ↗

  European Journal of Human Genetics · 2012 · PMID 22258522
  not yet assessed
• A Novel Homozygous &lt;b&gt;&lt;i&gt;WDR72&lt;/i&gt;&lt;/b&gt; Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature ↗

  Molecular Syndromology · 2012 · PMID 23293580
  not yet assessed
• Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  European Journal of Human Genetics · 2012
  not yet assessed
• Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion ↗

  Journal of Medical Genetics · 2011 · PMID 22147889
  not yet assessed
• Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss ↗

  The American Journal of Human Genetics · 2011 · PMID 21549336
  not yet assessed
• Severe case and literature review of primary erythromelalgia: Novel <i>SCN9A</i> gene mutation ↗

  Vascular Medicine · 2011 · PMID 22033523
  not yet assessed
• Unique phenotype in a patient with CHARGE syndrome ↗

  International Journal of Pediatric Endocrinology · 2011 · PMID 21995344
  not yet assessed
• The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice ↗

  Journal of Clinical Investigation · 2011
  not yet assessed
• Verlust des Sensibilitäts- und Schmerzempfindens ↗

  Medizinische Genetik · 2011
  not yet assessed
• Non-Mendelian inheritance in split-hand/foot malformation associated with CNVs on chromosome 17p

  2011
  not yet assessed
• The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice ↗

  Journal of Clinical Investigation · 2010 · PMID 20389022
  not yet assessed
• WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

  The American Journal of Human Genetics · 2010 · PMID 20887964
  L1 No computation
• Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy ↗

  Nature Genetics · 2009 · PMID 19838196
  not yet assessed
• Duplications of noncoding elements 5′ of SOX9 are associated with brachydactyly-anonychia ↗

  Nature Genetics · 2009 · PMID 19639023
  not yet assessed
• Rdh12 Activity and Effects on Retinoid Processing in the Murine Retina ↗

  Journal of Biological Chemistry · 2009 · PMID 19506076
  not yet assessed
• The murine AE4 promoter predominantly drives type B intercalated cell specific transcription ↗

  Histochemistry and Cell Biology · 2009 · PMID 19544066
  not yet assessed
• Analysis of Rare APC Variants at the mRNA Level ↗

  Journal of Molecular Diagnostics · 2009 · PMID 19196998
  not yet assessed
• Missense exchanges in the TTBK2 gene mutated in SCA11 ↗

  Journal of Neurology · 2009 · PMID 19533200
  not yet assessed
• Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

  The American Journal of Human Genetics · 2008 · PMID 18834967
  L1 70/100
• Mice with targeted <i>Slc4a10</i> gene disruption have small brain ventricles and show reduced neuronal excitability ↗

  Proceedings of the National Academy of Sciences · 2007 · PMID 18165320
  not yet assessed
• Visual Cycle Function Is Not Limited by Rdh12-Deficiency in Knockout Mice

  2007
  not yet assessed
• Targeted Disruption of the Murine Retinal Dehydrogenase Gene <i>Rdh12</i> Does Not Limit Visual Cycle Function ↗

  Molecular and Cellular Biology · 2006 · PMID 17130236
  not yet assessed
• Germ Cell Nuclear Factor Is a Repressor of CRIPTO-1 and CRIPTO-3 ↗

  Journal of Biological Chemistry · 2006 · PMID 16954206
  not yet assessed
• Strategien zur Antikoagulation und Operation bei akuter Thrombophlebitis ↗

  Zentralblatt für Chirurgie - Zeitschrift für Allgemeine Viszeral- Thorax- und Gefäßchirurgie · 2006 · PMID 16485211
  not yet assessed
• Oberflächliche Thrombophlebitis? ↗

  MMW - Fortschritte der Medizin · 2006 · PMID 17615771
  not yet assessed
• Mice with a Targeted Disruption of the Cl⁻/HCO₃⁻ Exchanger AE3 Display a Reduced Seizure Threshold ↗

  Molecular and Cellular Biology · 2005 · PMID 16354689
  not yet assessed
• The forkhead transcription factor Foxi1 directly activates the AE4 promoter ↗

  Biochemical Journal · 2005 · PMID 16159312
  not yet assessed
• Akute Thrombophlebitis?eine untersch�tzte Gefahr! ↗

  Gefässchirurgie · 2005
  not yet assessed
• Untersuchungen zur Zytokinbindung und Rezeptoraktivierung des Signaltransduktors gp130 durch seine Liganden IL-6 und IL-11

  RWTH Publications (RWTH Aachen) · 2003
  not yet assessed
• A functional role of the membrane‐proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptor ↗

  European Journal of Biochemistry · 2002 · PMID 12047380
  not yet assessed
• Importance of the Membrane-Proximal Extracellular Domains for Activation of the Signal Transducer Glycoprotein 130 ↗

  The Journal of Immunology · 2000 · PMID 10605021
  not yet assessed
• Two Different Epitopes of the Signal Transducer gp130 Sequentially Cooperate on IL-6-Induced Receptor Activation ↗

  The Journal of Immunology · 2000 · PMID 11120832
  not yet assessed
• Different epitopes are required for gp130 activation by interleukin‐6, oncostatin M and leukemia inhibitory factor ↗

  FEBS Letters · 2000 · PMID 10692570
  not yet assessed
• Activation of the Signal Transducer Glycoprotein 130 by Both IL-6 and IL-11 Requires Two Distinct Binding Epitopes ↗

  The Journal of Immunology · 1999 · PMID 9973404
  not yet assessed
• Aneurysms of the venous system: Should they be treated operatively? ↗

  Cardiovascular Surgery · 1995
  not yet assessed