Janine Altmüller

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.

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 (3)

• Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.
  2023 L1 80/100
• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage.⚑
  2020 78/100 ⚑
• Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients.
  2019 L1 93/100

3 assessed by us (3 reproduced) · 514 not yet assessed — every PubMed paper on record, linked below.

• Injured epithelial cell states impact kidney allograft survival after T-cell-mediated rejection ↗

  Nature Communications · 2026 · PMID 41605921
  not yet assessed
• Unraveling the Single-Cell Spatial Landscapes of Melanoma Brain Metastases ↗

  SSRN Electronic Journal · 2026
  not yet assessed
• CACNB3 defects are associated with infantile idiopathic nystagmus ↗

  Brain Communications · 2026 · PMID 41822111
  not yet assessed
• Injured epithelial cell states impact kidney allograft survival after T-cell-mediated rejection ↗

  Refubium (Universitätsbibliothek der Freien Universität Berlin) · 2026
  not yet assessed
• Author Correction: Injured epithelial cell states impact kidney allograft survival after T-cell-mediated rejection ↗

  Nature Communications · 2026 · PMID 42115193
  not yet assessed
• Deep molecular profiling of lung neuroendocrine tumours and supra-carcinoids ↗

  Molecular Cancer · 2026 · PMID 42649496
  not yet assessed
• SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis ↗

  JCI Insight · 2025 · PMID 40131364
  not yet assessed
• Astrocytic-OTUD7B ameliorates murine experimental autoimmune encephalomyelitis by stabilizing glial fibrillary acidic protein and preventing inflammation ↗

  Nature Communications · 2025 · PMID 41115891
  not yet assessed
• Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer ↗

  JAMA Network Open · 2025 · PMID 40009381
  not yet assessed
• A clinically relevant morpho-molecular classification of lung neuroendocrine tumours ↗

  medRxiv · 2025
  not yet assessed
• Unraveling the Single-Cell Spatial Landscapes of Melanoma Brain Metastases ↗

  medRxiv · 2025
  not yet assessed
• Esophageal adenocarcinoma relapse after chemoradiation is dominated by a basal-like subtype ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025
  not yet assessed
• Complex Human hear bearing Skin Organoids reveal Cell Type Specific Susceptibility and Innate Immune Responses to Herpes Simplex Virus 1 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2025
  not yet assessed
• The deubiquitinase OTUD7B ameliorates central nervous system autoimmunity by inhibiting degradation of glial fibrillary acidic protein and astrocyte hyperinflammation ↗

  Research Square · 2025
  not yet assessed
• Thick ascending limb injury critically impacts kidney allograft survival after T-cell-mediated rejection ↗

  Research Square · 2025
  not yet assessed
• Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors ↗

  Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2025
  not yet assessed
• Epithelial Injury Cell States Affect Kidney Transplant Survival After T Cell-Mediated Rejection ↗

  Journal of the American Society of Nephrology · 2025
  not yet assessed
• Circulating Tumor DNA Sequencing for Biologic Classification and Individualized Risk Stratification in Patients With Hodgkin Lymphoma ↗

  Journal of Clinical Oncology · 2024 · PMID 39348625
  not yet assessed
• Pathogen dynamics and discovery of novel viruses and enzymes by deep nucleic acid sequencing of wastewater ↗

  Environment International · 2024 · PMID 39002331
  not yet assessed
• Effective Inhibitor Removal from Wastewater Samples Increases Sensitivity of RT-dPCR and Sequencing Analyses and Enhances the Stability of Wastewater-Based Surveillance ↗

  Microorganisms · 2024 · PMID 39770678
  not yet assessed
• Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome ↗

  Cell Reports · 2024 · PMID 39003740
  not yet assessed
• TERT Expression and Clinical Outcome in Pulmonary Carcinoids ↗

  Journal of Clinical Oncology · 2024 · PMID 39348606
  not yet assessed
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ↗

  The American Journal of Human Genetics · 2024 · PMID 38701747
  not yet assessed
• The role of microRNAs in defining LSECs cellular identity and in regulating F8 gene expression ↗

  Frontiers in Genetics · 2024 · PMID 38440189
  not yet assessed
• Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy ↗

  European Journal of Human Genetics · 2024 · PMID 38316952
  not yet assessed
• The miRNAs present in LSECs play pivotal role in defining their cellular identity and have an impact on the regulation of F8 gene expression ↗

  Hämostaseologie · 2024
  not yet assessed
• Plasma Circulating Tumor DNA Sequencing Reveals the Landscape of Acquired Mutations in Patients with Hepatocellular Carcinoma: a Potential Predictive Value in Liquid Biopsy ↗

  Research Square · 2024
  not yet assessed
• A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa ↗

  Journal of Medicine and Life · 2024 · PMID 39628969
  not yet assessed
• Parallel Sequencing of Transposons and Transcriptomes in Single Cells for Genome-Wide Cancer Gene Discovery ↗

  Blood · 2024
  not yet assessed
• Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity

  Nature Genetics · 2023 · PMID 36928603
  L1 80/100
• Genomic ALK alterations in primary and relapsed neuroblastoma ↗

  British Journal of Cancer · 2023 · PMID 36807339
  not yet assessed
• Spatial and single-cell profiling of the metabolome, transcriptome and epigenome of the aging mouse liver ↗

  Nature Aging · 2023 · PMID 37946043
  not yet assessed
• Germline C1GALT1C1 mutation causes a multisystem chaperonopathy ↗

  Proceedings of the National Academy of Sciences · 2023 · PMID 37216524
  not yet assessed
• Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4 ↗

  The American Journal of Human Genetics · 2023 · PMID 36812914
  not yet assessed
• The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans ↗

  Scientific Reports · 2023 · PMID 37596289
  not yet assessed
• XPF interacts with TOP2B for R-loop processing and DNA looping on actively transcribed genes ↗

  Science Advances · 2023 · PMID 37939182
  not yet assessed
• The Fate of Oxidative Strand Breaks in Mitochondrial DNA ↗

  Antioxidants · 2023 · PMID 37237953
  not yet assessed
• The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing ↗

  Epilepsia Open · 2023 · PMID 36896643
  not yet assessed
• Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation ↗

  iScience · 2023 · PMID 37485359
  not yet assessed
• Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly ↗

  Human Genetics · 2023 · PMID 36943452
  not yet assessed
• The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued ↗

  Orphanet Journal of Rare Diseases · 2023 · PMID 37131188
  not yet assessed
• Oncogenic role and target properties of the lysine-specific demethylase KDM1A in chronic lymphocytic leukemia ↗

  Blood · 2023 · PMID 37023372
  not yet assessed
• Potential Contribution of Ancient Introgression to the Evolution of a Derived Reproductive Strategy in Ricefishes ↗

  Genome Biology and Evolution · 2023 · PMID 37493080
  not yet assessed
• Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions ↗

  Genome Medicine · 2023 · PMID 37612755
  not yet assessed
• VoltRon: A Spatial Omics Analysis Platform for Multi-Resolution and Multi-omics Integration using Image Registration ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2023
  not yet assessed
• Data from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Data from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Data from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Figure from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Data from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Data from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Figure from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Table from Noncanonical Function of AGO2 Augments T-cell Receptor Signaling in T-cell Prolymphocytic Leukemia ↗

  2023
  not yet assessed
• Supplementary Data from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 1 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Data from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 2 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 4 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 1 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 3 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Data from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 2 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 3 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figure 4 from Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  2023
  not yet assessed
• Supplementary Figures from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Data from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Data from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Supplementary Figures from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Supplementary Tables from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Supplementary Tables from CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  2023
  not yet assessed
• Data from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Data from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S1 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S2 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S1 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S2 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Supplementary Data from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S3 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Table S3 from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• Supplementary Data from An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  2023
  not yet assessed
• S236: HIGH-BREADTH SEQUENCING OF CIRCULATING TUMOR DNA IDENTIFIES NOVEL CLASSIFICATION OF HODGKIN LYMPHOMA ↗

  HemaSphere · 2023
  not yet assessed
• Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development ↗

  Yearbook of pediatric endocrinology · 2023
  not yet assessed
• Single-copy orthologous genes used for Ricefish phylogeny ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2023
  not yet assessed
• Single-copy orthologous genes used for Ricefish phylogeny ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2023
  not yet assessed
• Assembly data files Oryzias dopingdopingensis ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2023
  not yet assessed
• Assembly data files Oryzias dopingdopingensis ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2023
  not yet assessed
• Delineation of Laminopathies as Progeroid and Neurodevelopmental Disorders Due to Deficient Nuclear Membrane Trafficking ↗

  Neuropediatrics · 2023
  not yet assessed
• Deregulation and epigenetic modification of BCL2-family genes cause resistance to venetoclax in hematologic malignancies ↗

  Blood · 2022 · PMID 35704690
  not yet assessed
• Detailed stratified GWAS analysis for severe COVID-19 in four European populations ↗

  Human Molecular Genetics · 2022 · PMID 35848942
  not yet assessed
• RNA modification mapping with JACUSA2 ↗

  Genome biology · 2022 · PMID 35578346
  not yet assessed
• The genomic landscape across 474 surgically accessible epileptogenic human brain lesions ↗

  Brain · 2022 · PMID 36226386
  not yet assessed
• Human UPF3A and UPF3B enable fault‐tolerant activation of nonsense‐mediated mRNA decay ↗

  The EMBO Journal · 2022 · PMID 35451084
  not yet assessed
• Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI ↗

  Frontiers in Genetics · 2022 · PMID 35937994
  not yet assessed
• Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution

  Kölner Universitäts PublikationsServer (Universität zu Köln) · 2022
  not yet assessed
• Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer ↗

  Cancers · 2022 · PMID 35805063
  not yet assessed
• SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution ↗

  The Science of The Total Environment · 2022 · PMID 36228784
  not yet assessed
• Single cell‐ and spatial ‘Omics revolutionize physiology ↗

  Acta Physiologica · 2022 · PMID 35656634
  not yet assessed
• Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance ↗

  Nucleic Acids Research · 2022 · PMID 35640609
  not yet assessed
• Reliable assessment of telomere maintenance mechanisms in neuroblastoma ↗

  Cell & Bioscience · 2022 · PMID 36153564
  not yet assessed
• De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway ↗

  Human Genetics and Genomics Advances · 2022 · PMID 35571680
  not yet assessed
• Phenotypic spectrum of BLM ‐ and RMI1 ‐related Bloom syndrome ↗

  Clinical Genetics · 2022 · PMID 35218564
  not yet assessed
• Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA ↗

  Nucleic Acids Research · 2022 · PMID 36583366
  not yet assessed
• WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly ↗

  Human Mutation · 2022 · PMID 35790048
  not yet assessed
• Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes ↗

  Kidney International Reports · 2022 · PMID 36815115
  not yet assessed
• NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibition ↗

  Molecular Metabolism · 2022 · PMID 36356831
  not yet assessed
• Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum ↗

  Frontiers in Cell and Developmental Biology · 2022 · PMID 36467423
  not yet assessed
• Unraveling Structural Rearrangements of the CFH Gene Cluster in Atypical Hemolytic Uremic Syndrome Patients Using Molecular Combing and Long-Fragment Targeted Sequencing ↗

  Journal of Molecular Diagnostics · 2022 · PMID 35398599
  not yet assessed
• Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain ↗

  Clinical Genetics · 2022 · PMID 36576126
  not yet assessed
• RB1-Negative Retinal Organoids Display Proliferation of Cone Photoreceptors and Loss of Retinal Differentiation ↗

  Cancers · 2022 · PMID 35565295
  not yet assessed
• Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies ↗

  European Journal of Human Genetics · 2022 · PMID 35304602
  not yet assessed
• Mutations inTAF8cause a neurodegenerative disorder ↗

  Brain · 2022 · PMID 35759269
  not yet assessed
• Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin—a single-center analysis ↗

  Nephrology Dialysis Transplantation · 2022 · PMID 35485766
  not yet assessed
• De Novo-Whole Genome Assembly of the Roborovski Dwarf Hamster ( Phodopus roborovskii ) Genome: An Animal Model for Severe/Critical COVID-19 ↗

  Genome Biology and Evolution · 2022 · PMID 35778793
  not yet assessed
• Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry ↗

  Cancers · 2022 · PMID 35884425
  not yet assessed
• A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family ↗

  Journal of Human Genetics · 2022 · PMID 36217027
  not yet assessed
• Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development ↗

  Human Mutation · 2022 · PMID 34979047
  not yet assessed
• P037: High breadth whole exome sequencing of circulating tumor DNA identifies novel recurrent genetic alterations in Hodgkin lymphoma ↗

  HemaSphere · 2022
  not yet assessed
• The genomic landscape across 474 surgically accessible epileptogenic human brain lesions ↗

  medRxiv · 2022
  not yet assessed
• Comprehensive profiling of wastewater viromes by genomic sequencing ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Reliable assessment of telomere maintenance mechanisms in neuroblastoma ↗

  Research Square · 2022
  not yet assessed
• Contribution of hybridization to the evolution of a derived reproductive strategy in ricefishes ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Npl3 functions in mRNP assembly by recruitment of mRNP components to the transcription site and their transfer onto the mRNA ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2022
  not yet assessed
• Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-Glycosylation ↗

  Research Square · 2022
  not yet assessed
• Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita ↗

  Research Square · 2022
  not yet assessed
• UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• JACUSA2 - use cases: 1 - 3 ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• JACUSA2 - use cases: 1 - 3 ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• JACUSA2 - use cases: 1 - 3 ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Full-Length Spatial Transcriptomics Reveals the Unexplored Isoform Diversity of the Myocardium Post-MI ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2022
  not yet assessed
• Additional file 2 of RNA modification mapping with JACUSA2 ↗

  Figshare · 2022
  not yet assessed
• Additional file 4 of RNA modification mapping with JACUSA2 ↗

  Figshare · 2022
  not yet assessed
• Additional file 3 of Reliable assessment of telomere maintenance mechanisms in neuroblastoma ↗

  Figshare · 2022
  not yet assessed
• Additional file 1 of Reliable assessment of telomere maintenance mechanisms in neuroblastoma ↗

  Figshare · 2022
  not yet assessed
• Additional file 2 of Reliable assessment of telomere maintenance mechanisms in neuroblastoma ↗

  Figshare · 2022
  not yet assessed
• Additional file 3 of RNA modification mapping with JACUSA2 ↗

  Figshare · 2022
  not yet assessed
• Additional file 5 of RNA modification mapping with JACUSA2 ↗

  Figshare · 2022
  not yet assessed
• Additional file 6 of RNA modification mapping with JACUSA2 ↗

  Figshare · 2022
  not yet assessed
• Claudin-10a Deficiency Shifts Proximal Tubular Cl- Permeability to Cation Selectivity via Claudin-2 Redistribution ↗

  Journal of the American Society of Nephrology · 2022 · PMID 35031570
  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
• Human brain organoids assemble functionally integrated bilateral optic vesicles ↗

  Cell stem cell · 2021 · PMID 34407456
  not yet assessed
• Long‐lived macrophage reprogramming drives spike protein‐mediated inflammasome activation in COVID‐19 ↗

  EMBO Molecular Medicine · 2021 · PMID 34133077
  not yet assessed
• Chromothripsis followed by circular recombination drives oncogene amplification in human cancer ↗

  Nature Genetics · 2021 · PMID 34782764
  not yet assessed
• RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis ↗

  Science Advances · 2021 · PMID 34678064
  not yet assessed
• Niche stiffening compromises hair follicle stem cell potential during ageing by reducing bivalent promoter accessibility ↗

  Nature Cell Biology · 2021 · PMID 34239060
  not yet assessed
• SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity ↗

  Nature Communications · 2021 · PMID 34172724
  not yet assessed
• HMGB1 coordinates SASP‐related chromatin folding and RNA homeostasis on the path to senescence ↗

  Molecular Systems Biology · 2021 · PMID 34166567
  not yet assessed
• ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIF–containing protein that controls root growth angle in barley and wheat ↗

  Proceedings of the National Academy of Sciences · 2021 · PMID 34446550
  not yet assessed
• R-loops trigger the release of cytoplasmic ssDNAs leading to chronic inflammation upon DNA damage ↗

  Science Advances · 2021 · PMID 34797720
  not yet assessed
• In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin’s lymphoma and facilitates ultrasensitive residual disease detection ↗

  Med · 2021 · PMID 35590205
  not yet assessed
• mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy ↗

  Journal of the American Society of Nephrology · 2021 · PMID 34607910
  not yet assessed
• The splicing factor XAB2 interacts with ERCC1-XPF and XPG for R-loop processing ↗

  Nature Communications · 2021 · PMID 34039990
  not yet assessed
• Transposable elements and introgression introduce genetic variation in the invasive ant Cardiocondyla obscurior ↗

  Molecular Ecology · 2021 · PMID 34324751
  not yet assessed
• Single-cell transcriptome sequencing on the Nanopore platform with ScNapBar ↗

  RNA · 2021 · PMID 33906975
  not yet assessed
• Mitochondrial respiratory chain function promotes extracellular matrix integrity in cartilage ↗

  Journal of Biological Chemistry · 2021 · PMID 34560099
  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
• Clonal dynamics of BRAF-driven drug resistance in EGFR-mutant lung cancer ↗

  npj Precision Oncology · 2021 · PMID 34921211
  not yet assessed
• Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology ↗

  Nature Communications · 2021 · PMID 34021162
  not yet assessed
• ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants ↗

  Neurogenetics · 2021 · PMID 34218362
  not yet assessed
• Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies ↗

  Genetics in Medicine · 2021 · PMID 34244665
  not yet assessed
• De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis ↗

  The American Journal of Human Genetics · 2021 · PMID 33508234
  not yet assessed
• Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism ↗

  Human Genetics · 2021 · PMID 33959807
  not yet assessed
• Inflammation and convergent placenta gene co-option contributed to a novel reproductive tissue ↗

  Current Biology · 2021 · PMID 34932936
  not yet assessed
• Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state ↗

  Journal of Medical Genetics · 2021 · PMID 34172529
  not yet assessed
• hiPSC-Derived Epidermal Keratinocytes from Ichthyosis Patients Show Altered Expression of Cornification Markers ↗

  International Journal of Molecular Sciences · 2021 · PMID 33670118
  not yet assessed
• Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 33427397
  not yet assessed
• MTBP phosphorylation controls DNA replication origin firing ↗

  Scientific Reports · 2021 · PMID 33608586
  not yet assessed
• A comparison of metabolic labeling and statistical methods to infer genome-wide dynamics of RNA turnover ↗

  Briefings in Bioinformatics · 2021 · PMID 34228787
  not yet assessed
• Clinical and genetic characterization of PYROXD1 ‐related myopathy patients from Turkey ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 33694278
  not yet assessed
• Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ ↗

  Genes · 2021 · PMID 34068194
  not yet assessed
• Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V ↗

  Frontiers in Genetics · 2021 · PMID 34322157
  not yet assessed
• An identical‐by‐descent novel splice‐donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese families ↗

  Annals of Human Genetics · 2021 · PMID 34111303
  not yet assessed
• A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 34913263
  not yet assessed
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome ↗

  The American Journal of Human Genetics · 2021
  not yet assessed
• Biallelic variants in YRDC cause a developmental disorder with progeroid features ↗

  Human Genetics · 2021 · PMID 34545459
  not yet assessed
• Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis ↗

  PLoS ONE · 2021 · PMID 34843512
  not yet assessed
• MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease ↗

  European Journal of Medical Genetics · 2021 · PMID 34400370
  not yet assessed
• Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients ↗

  International Journal of Molecular Sciences · 2021 · PMID 34502260
  not yet assessed
• A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A ‐related pathologies ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 34611991
  not yet assessed
• Coregulation of gene expression by White collar 1 and phytochrome in Ustilago maydis ↗

  Fungal Genetics and Biology · 2021 · PMID 34004340
  not yet assessed
• Familial cleft tongue caused by a unique translation initiation codon variant in TP63 ↗

  European Journal of Human Genetics · 2021 · PMID 34629465
  not yet assessed
• A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family ↗

  Genes · 2021 · PMID 34680889
  not yet assessed
• Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report ↗

  Pan African Medical Journal · 2021 · PMID 34394812
  not yet assessed
• CALINCA—A Novel Pipeline for the Identification of lncRNAs in Podocyte Disease ↗

  Cells · 2021 · PMID 33804736
  not yet assessed
• A novel remitting leukodystrophy associated with a variant in FBP2 ↗

  Brain Communications · 2021 · PMID 33977262
  not yet assessed
• MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cells ↗

  Journal of Proteomics · 2021 · PMID 34775100
  not yet assessed
• POS-434 FISH-EYE DISEASE: A RARE CAUSE OF STEROID RESISTANT NEPHROTIC SYNDROME ↗

  Kidney International Reports · 2021
  not yet assessed
• Evidence of Pathogenicity for the Leaky Splice Variant c.1066-6T>G in ATM in a Patient with Variant Ataxia Telangiectasia ↗

  Neuropediatrics · 2021
  not yet assessed
• Detailed stratified GWAS analysis for severe COVID-19 in four European populations ↗

  medRxiv · 2021
  not yet assessed
• Human brain organoids assemble functionally integrated bilateral optic vesicles ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Exhaustive circulating tumor DNA sequencing reveals the genomic landscape of Hodgkin lymphoma and facilitates ultrasensitive detection of minimal residual disease ↗

  medRxiv · 2021
  not yet assessed
• SARS-CoV-2 infection dynamics revealed by wastewater sequencing analysis and deconvolution ↗

  medRxiv · 2021
  not yet assessed
• De Novo Whole Genome Assembly of the Roborovski Dwarf Hamster ( Phodopus roborovskii ) Genome, an Animal Model for Severe/Critical COVID-19 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Single-cell resolution unravels spatial alterations in metabolism, transcriptome and epigenome of ageing liver ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• RNA modification mapping with JACUSA2 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• UPF3A and UPF3B are redundant and modular activators of nonsense-mediated mRNA decay in human cells ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• ENHANCED GRAVITROPISM 2 encodes a STERILE ALPHA MOTIVE containing protein that controls root growth angle in barley and wheat ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Disentangling heterogeneity of Malignant Pleural Mesothelioma through deep integrative omics analyses ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• P2Y6 receptor signaling in natural killer cells impairs insulin sensitivity in obesity ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• Exon junction complex-associated multi-adapter RNPS1 nucleates splicing regulatory complexes to maintain transcriptome surveillance ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• LIQUID‐BIOPSY BASED GENOTYPING OF PRIMARY CENTRAL NERVOUS SYSTEM LYMPHOMA (PCNSL) ↗

  Hematological Oncology · 2021
  not yet assessed
• Genomic basis of syndromic short stature in an Algerian patient cohort ↗

  American Journal of Medical Genetics Part A · 2021 · PMID 34644002
  not yet assessed
• Phenotypic distinctions of BLM- and RMI1- associated Bloom syndrome ↗

  medRxiv · 2021
  not yet assessed
• Single cell RNA sequencing identifies mitochondrial respiration as a key factor contributing to extracellular matrix integrity ↗

  Osteologie/Osteology · 2021
  not yet assessed
• Ablation of the FACIT collagen XII disturbs musculoskeletal ECM organization and causes patella dislocation and myopathy ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2021
  not yet assessed
• SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity ↗

  Figshare · 2021
  not yet assessed
• SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity ↗

  Zenodo (CERN European Organization for Nuclear Research) · 2021
  not yet assessed
• Characterization of circulating breast cancer cells with tumorigenic and metastatic capacity ↗

  EMBO Molecular Medicine · 2020 · PMID 32667137
  not yet assessed
• Tissue-infiltrating macrophages mediate an exosome-based metabolic reprogramming upon DNA damage ↗

  Nature Communications · 2020 · PMID 31896748
  not yet assessed
• MCH Neurons Regulate Permeability of the Median Eminence Barrier ↗

  Neuron · 2020 · PMID 32407670
  not yet assessed
• Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy ↗

  Circulation · 2020 · PMID 32623905
  not yet assessed
• cfNOMe — A single assay for comprehensive epigenetic analyses of cell-free DNA ↗

  Genome Medicine · 2020 · PMID 32580754
  not yet assessed
• Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer ↗

  JAMA Oncology · 2020 · PMID 32163106
  not yet assessed
• Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome ↗

  The American Journal of Human Genetics · 2020 · PMID 32497488
  not yet assessed
• CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex ↗

  Nucleic Acids Research · 2020 · PMID 32621609
  not yet assessed
• A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome ↗

  European Journal of Human Genetics · 2020 · PMID 32483341
  not yet assessed
• The Integrated RNA Landscape of Renal Preconditioning against Ischemia-Reperfusion Injury ↗

  Journal of the American Society of Nephrology · 2020 · PMID 32111728
  not yet assessed
• An Autochthonous Mouse Model of Myd88 - and BCL2 -Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular Vulnerabilities ↗

  Blood Cancer Discovery · 2020 · PMID 33447829
  not yet assessed
• Noncanonical effector functions of the T-memory–like T-PLL cell are shaped by cooperative TCL1A and TCR signaling ↗

  Blood · 2020 · PMID 33301031
  not yet assessed
• Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss ↗

  Clinical Genetics · 2020 · PMID 32279305
  not yet assessed
• Analysis of Driver Mutational Hot Spots in Blood-Derived Cell-Free DNA of Patients with Primary Central Nervous System Lymphoma Obtained before Intracerebral Biopsy ↗

  Journal of Molecular Diagnostics · 2020 · PMID 32745612
  not yet assessed
• Exome sequencing in 38 patients with intracranial aneurysms and subarachnoid hemorrhage⚑

  Journal of Neurology · 2020 · PMID 32367296
  78/100 ⚑
• Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia ↗

  Genetics in Medicine · 2020 · PMID 33024317
  not yet assessed
• Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours ↗

  American Journal of Medical Genetics Part A · 2020 · PMID 33048476
  not yet assessed
• De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome ↗

  Human Genetics · 2020 · PMID 32424618
  not yet assessed
• Micro-RNA networks in T-cell prolymphocytic leukemia reflect T-cell activation and shape DNA damage response and survival pathways ↗

  Haematologica · 2020 · PMID 33543866
  not yet assessed
• A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia ↗

  Molecular Syndromology · 2020 · PMID 32256299
  not yet assessed
• Cell type‐specific transcriptomics of esophageal adenocarcinoma as a scalable alternative for single cell transcriptomics ↗

  Molecular Oncology · 2020 · PMID 32255255
  not yet assessed
• Evidence of pathogenicity for the leaky splice variant c. 1066‐6T >G in ATM ↗

  American Journal of Medical Genetics Part A · 2020 · PMID 32918381
  not yet assessed
• Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B ↗

  Scientific Reports · 2020 · PMID 33384439
  not yet assessed
• Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883) ↗

  Journal of Medical Genetics · 2020 · PMID 33273034
  not yet assessed
• RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Single cell transcriptome sequencing on the Nanopore platform with ScNapBar ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Nonsense-mediated mRNA decay relies on “two-factor authentication” by SMG5-SMG7 ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Correction: The genomic and clinical landscape of fetal akinesia ↗

  Genetics in Medicine · 2020 · PMID 32451403
  not yet assessed
• Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy ↗

  Scientific Reports · 2020 · PMID 32398663
  not yet assessed
• ERCC1-XPF Interacts with Topoisomerase IIβ to Facilitate the Repair of Activity-induced DNA Breaks ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• The Splicing Factor XAB2 interacts with ERCC1-XPF and XPG for RNA-loop processing during mammalian development ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2020
  not yet assessed
• Author response for "Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss" ↗

  2020
  not yet assessed
• Genome-wide association study of lung function decline in adults with and without asthma ↗

  Carolina Digital Repository (University of North Carolina at Chapel Hill) · 2020
  not yet assessed
• Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids ↗

  Nature Communications · 2019 · PMID 31431620
  not yet assessed
• De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry ↗

  The American Journal of Human Genetics · 2019 · PMID 31630787
  not yet assessed
• m6A-mRNA methylation regulates cardiac gene expression and cellular growth ↗

  Life Science Alliance · 2019 · PMID 30967445
  not yet assessed
• Tracheal brush cells release acetylcholine in response to bitter tastants for paracrine and autocrine signaling ↗

  The FASEB Journal · 2019 · PMID 31914675
  not yet assessed
• Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration ↗

  The FASEB Journal · 2019 · PMID 31345061
  not yet assessed
• Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer ↗

  Breast Cancer Research · 2019 · PMID 31036035
  not yet assessed
• Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta ↗

  The American Journal of Human Genetics · 2019 · PMID 31564437
  not yet assessed
• Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome ↗

  The American Journal of Human Genetics · 2019 · PMID 31155282
  not yet assessed
• SSBP1 mutations in dominant optic atrophy with variable retinal degeneration ↗

  Annals of Neurology · 2019 · PMID 31298765
  not yet assessed
• Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases ↗

  The American Journal of Human Genetics · 2019 · PMID 31256876
  not yet assessed
• The genomic and clinical landscape of fetal akinesia ↗

  Genetics in Medicine · 2019 · PMID 31680123
  not yet assessed
• Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients

  Genetics in Medicine · 2019 · PMID 30675029
  L1 93/100
• Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction ↗

  The American Journal of Human Genetics · 2019 · PMID 31051115
  not yet assessed
• Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883) ↗

  Journal of Medical Genetics · 2019 · PMID 30979843
  not yet assessed
• Loss of Msh2 and a single-radiation hit induce common, genome-wide, and persistent epigenetic changes in the intestine ↗

  Clinical Epigenetics · 2019 · PMID 31029155
  not yet assessed
• Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis ↗

  Scientific Reports · 2019 · PMID 31186450
  not yet assessed
• Novel PNKP mutations causing defective DNA strand break repair and PARP1 hyperactivity in MCSZ ↗

  Neurology Genetics · 2019 · PMID 31041400
  not yet assessed
• Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem ↗

  Journal of Experimental Botany · 2019 · PMID 31037302
  not yet assessed
• A protocol for laser microdissection (LMD) followed by transcriptome analysis of plant reproductive tissue in phylogenetically distant angiosperms ↗

  Plant Methods · 2019 · PMID 31889976
  not yet assessed
• Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia ↗

  Journal of Human Genetics · 2019 · PMID 31165786
  not yet assessed
• Reconstruction of rearranged T‐cell receptor loci by whole genome and transcriptome sequencing gives insights into the initial steps of T‐cell prolymphocytic leukemia ↗

  Genes Chromosomes and Cancer · 2019 · PMID 31677197
  not yet assessed
• Assessment of genetic variant burden in epilepsy-associated brain lesions ↗

  European Journal of Human Genetics · 2019 · PMID 31358956
  not yet assessed
• The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotype ↗

  Human Mutation · 2019 · PMID 31821646
  not yet assessed
• Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan ↗

  Molecular Genetics & Genomic Medicine · 2019 · PMID 30600594
  not yet assessed
• Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer ↗

  Senologie - Zeitschrift für Mammadiagnostik und -therapie · 2019
  not yet assessed
• CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2019
  not yet assessed
• Die genomische Ätiologie fetaler Akinesie ↗

  Nervenheilkunde · 2019
  not yet assessed
• Corrigendum to: Specific chromatin changes mark lateral organ founder cells in the Arabidopsis inflorescence meristem ↗

  Journal of Experimental Botany · 2019 · PMID 31251340
  not yet assessed
• Correction to: Novel mutations in KMT2B offer pathophysiological insights on childhood-onset progressive dystonia ↗

  Journal of Human Genetics · 2019 · PMID 31388109
  not yet assessed
• Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors ↗

  Nature Communications · 2018 · PMID 29535388
  not yet assessed
• A mechanistic classification of clinical phenotypes in neuroblastoma ↗

  Science · 2018 · PMID 30523111
  not yet assessed
• The Biotrophic Development of Ustilago maydis Studied by RNA-Seq Analysis ↗

  The Plant Cell · 2018 · PMID 29371439
  not yet assessed
• HMGB2 Loss upon Senescence Entry Disrupts Genomic Organization and Induces CTCF Clustering across Cell Types ↗

  Molecular Cell · 2018 · PMID 29706538
  not yet assessed
• Linear mitochondrial DNA is rapidly degraded by components of the replication machinery ↗

  Nature Communications · 2018 · PMID 29712893
  not yet assessed
• Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia ↗

  Nature Communications · 2018 · PMID 29463802
  not yet assessed
• Gene panel testing of 5589 BRCA 1/2 ‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer ↗

  Cancer Medicine · 2018 · PMID 29522266
  not yet assessed
• Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ↗

  Journal of Clinical Investigation · 2018 · PMID 30179222
  not yet assessed
• BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer ↗

  Breast Cancer Research · 2018 · PMID 29368626
  not yet assessed
• Targeted resequencing reveals genomic signatures of barley domestication ↗

  New Phytologist · 2018 · PMID 29528492
  not yet assessed
• Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL ↗

  Nature Communications · 2018 · PMID 29449575
  not yet assessed
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ↗

  The American Journal of Human Genetics · 2018 · PMID 30057030
  not yet assessed
• The mutational landscape of Burkitt-like lymphoma with 11q aberration is distinct from that of Burkitt lymphoma ↗

  Blood · 2018 · PMID 30567752
  not yet assessed
• Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity ↗

  Molecular Cell · 2018 · PMID 30388410
  not yet assessed
• Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability ↗

  The American Journal of Human Genetics · 2018 · PMID 30388404
  not yet assessed
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome ↗

  The American Journal of Human Genetics · 2018 · PMID 30100084
  not yet assessed
• Olfactory Receptors as Biomarkers in Human Breast Carcinoma Tissues ↗

  Frontiers in Oncology · 2018 · PMID 29497600
  not yet assessed
• Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome ↗

  The American Journal of Human Genetics · 2018 · PMID 29429572
  not yet assessed
• Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex ↗

  The American Journal of Human Genetics · 2018 · PMID 30401459
  not yet assessed
• IG-MYC+ neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas ↗

  Blood · 2018 · PMID 30282799
  not yet assessed
• Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome ↗

  Journal of Medical Genetics · 2018 · PMID 30323018
  not yet assessed
• How to make a tumour: cell type specific dissection of Ustilago maydis‐ induced tumour development in maize leaves ↗

  New Phytologist · 2018 · PMID 29314018
  not yet assessed
• Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy ↗

  Scientific Reports · 2018 · PMID 29784949
  not yet assessed
• Mechanism suppressing H3K9 trimethylation in pluripotent stem cells and its demise by polyQ-expanded huntingtin mutations ↗

  Human Molecular Genetics · 2018 · PMID 30452683
  not yet assessed
• A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia ↗

  ˜The œNephron journals/Nephron journals · 2018 · PMID 29791908
  not yet assessed
• Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice ↗

  Nucleus · 2018 · PMID 30220251
  not yet assessed
• Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene ↗

  Birth Defects Research · 2018 · PMID 29388391
  not yet assessed
• Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy ↗

  European Journal of Human Genetics · 2018 · PMID 29358611
  not yet assessed
• Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy ↗

  Journal of Medical Genetics · 2018 · PMID 29661969
  not yet assessed
• Genome‐wide patterns of transposon proliferation in an evolutionary young hybrid fish ↗

  Molecular Ecology · 2018 · PMID 30520198
  not yet assessed
• Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development ↗

  Neuropediatrics · 2018 · PMID 30165711
  not yet assessed
• Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome ↗

  The American Journal of Human Genetics · 2018 · PMID 30388405
  not yet assessed
• Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome ↗

  Journal of Medical Genetics · 2018 · PMID 30120217
  not yet assessed
• OR2H2 regulates the differentiation of human myoblast cells by its ligand aldehyde 13-13 ↗

  Archives of Biochemistry and Biophysics · 2018 · PMID 29559321
  not yet assessed
• Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ↗

  The American Journal of Human Genetics · 2018
  not yet assessed
• Rare gene deletions in genetic generalized and Rolandic epilepsies ↗

  PLoS ONE · 2018 · PMID 30148849
  not yet assessed
• Combined Targeted Resequencing of Cytosine DNA Methylation and Mutations of DNA Repair Genes with Potential Use for Poly(ADP-Ribose) Polymerase 1 Inhibitor Sensitivity Testing ↗

  Journal of Molecular Diagnostics · 2018 · PMID 30576872
  not yet assessed
• Coinheritance of biallelic SLURP1 and SLC39A4 mutations cause a severe genodermatosis with skin peeling and hair loss all over the body ↗

  British Journal of Dermatology · 2018 · PMID 29947416
  not yet assessed
• Senior‐Løken syndrome with IQCB1 mutation in Taiwan ↗

  The Kaohsiung Journal of Medical Sciences · 2018 · PMID 30309488
  not yet assessed
• Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy ↗

  Scientific Reports · 2018 · PMID 29967434
  not yet assessed
• Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks ↗

  Kölner Universitäts PublikationsServer (Universität zu Köln) · 2018
  not yet assessed
• FV 747. Early-Onset Progressive Dystonia in Childhood with New Mutations in KMT2B ↗

  Neuropediatrics · 2018
  not yet assessed
• FV 241. Mutations in NFE2L2 Lead to a Novel Treatable Neurological Disorder with Leukoencephalopathy ↗

  Neuropediatrics · 2018
  not yet assessed
• Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice ↗

  Figshare · 2018
  not yet assessed
• Depletion of Nesprin-2 is associated with an embryonic lethal phenotype in mice ↗

  Figshare · 2018
  not yet assessed
• Supplementary Material for: A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia ↗

  Figshare · 2018
  not yet assessed
• Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks ↗

  Nature Genetics · 2017 · PMID 29273806
  not yet assessed
• Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer ↗

  JAMA Oncology · 2017 · PMID 28715532
  not yet assessed
• De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development ↗

  Nature Genetics · 2017 · PMID 28067911
  not yet assessed
• Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1) ↗

  PLoS ONE · 2017 · PMID 29053726
  not yet assessed
• Identification of circular RNAs with host gene-independent expression in human model systems for cardiac differentiation and disease ↗

  Journal of Molecular and Cellular Cardiology · 2017 · PMID 28676412
  not yet assessed
• Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia ↗

  Brain · 2017 · PMID 28459997
  not yet assessed
• Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism ↗

  Nature Genetics · 2017 · PMID 28191891
  not yet assessed
• Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder ↗

  Nature Communications · 2017 · PMID 29018201
  not yet assessed
• Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability ↗

  Human Genetics · 2017 · PMID 28393272
  not yet assessed
• Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa ↗

  Journal of Clinical Investigation · 2017 · PMID 28287404
  not yet assessed
• Activation of odorant receptor in colorectal cancer cells leads to inhibition of cell proliferation and apoptosis ↗

  PLoS ONE · 2017 · PMID 28273117
  not yet assessed
• A microRNA screen reveals that elevated hepatic ectodysplasin A expression contributes to obesity-induced insulin resistance in skeletal muscle ↗

  Nature Medicine · 2017 · PMID 29106399
  not yet assessed
• De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction ↗

  The American Journal of Human Genetics · 2017 · PMID 29100093
  not yet assessed
• Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin ↗

  eLife · 2017 · PMID 28632132
  not yet assessed
• Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features ↗

  Brain · 2017 · PMID 29053855
  not yet assessed
• Copy number increases of transposable elements and protein‐coding genes in an invasive fish of hybrid origin ↗

  Molecular Ecology · 2017 · PMID 28390096
  not yet assessed
• CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays ↗

  The American Journal of Human Genetics · 2017 · PMID 28886341
  not yet assessed
• A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula ↗

  Scientific Reports · 2017 · PMID 28469144
  not yet assessed
• A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction ↗

  Human Molecular Genetics · 2017 · PMID 29016863
  not yet assessed
• Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2 ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28328135
  not yet assessed
• Parallel habitat acclimatization is realized by the expression of different genes in two closely related salamander species (genus Salamandra) ↗

  Heredity · 2017 · PMID 28953268
  not yet assessed
• The role of de novo mutations in the development of amyotrophic lateral sclerosis ↗

  Human Mutation · 2017 · PMID 28714244
  not yet assessed
• Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome ↗

  Molecular Genetics & Genomic Medicine · 2017 · PMID 28944240
  not yet assessed
• A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy ↗

  American Journal of Medical Genetics Part A · 2017 · PMID 28817236
  not yet assessed
• Mutational profiling in the peripheral blood leukocytes of patients with systemic mast cell activation syndrome using next-generation sequencing ↗

  Immunogenetics · 2017 · PMID 28386644
  not yet assessed
• Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS) ↗

  Hereditary Cancer in Clinical Practice · 2017 · PMID 29213343
  not yet assessed
• Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples ↗

  Journal of Visualized Experiments · 2017 · PMID 28872116
  not yet assessed
• The complete mitochondrial transcript of the red tail loach Yasuhikotakia modesta as assembled from RNAseq (Teleostei: Botiidae) ↗

  Mitochondrial DNA Part B · 2017 · PMID 33490436
  not yet assessed
• Association of a synonymous SCN1B variant affecting splicing efficiency with Benign Familial Infantile Epilepsy (BFIE) ↗

  European Journal of Paediatric Neurology · 2017 · PMID 28566192
  not yet assessed
• Chromatin Immunoprecipitation (ChIP) Protocol for Low-abundance Embryonic Samples ↗

  Journal of Visualized Experiments · 2017
  not yet assessed
• Functional implications of novel ADAM10 mutations in reticulate acropigmentation of Kitamura ↗

  British Journal of Dermatology · 2017 · PMID 29192958
  not yet assessed
• Metatarsal bony syndactyly in 2 fetuses with Smith‐Lemli‐Opitz syndrome: An under‐recognized part of the clinical spectrum ↗

  Clinical Genetics · 2017 · PMID 28369852
  not yet assessed
• Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia ↗

  Molecular Case Studies · 2017 · PMID 29258992
  not yet assessed
• Topological demarcation by HMGB2 is disrupted early upon senescence entry across cell types and induces CTCF clustering ↗

  bioRxiv (Cold Spring Harbor Laboratory) · 2017
  not yet assessed
• P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations ↗

  2017
  not yet assessed
• Author response: Antagonistic modulation of NPY/AgRP and POMC neurons in the arcuate nucleus by noradrenalin ↗

  2017
  not yet assessed
• Abstract P3-08-01: TruRisk® based next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families reveal high mutation prevalence in additional risk genes ↗

  Cancer Research · 2017
  not yet assessed
• Riboflavin responsive neuromusculary disorders; broad phenotypic spectrum and importance of genetic analyses ↗

  European Journal of Paediatric Neurology · 2017
  not yet assessed
• A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula ↗

  Zurich Open Repository and Archive (University of Zurich) · 2017
  not yet assessed
• Heterogeneous Mechanisms of Primary and Acquired Resistance to Third-Generation EGFR Inhibitors ↗

  Clinical Cancer Research · 2016 · PMID 27252416
  not yet assessed
• Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis ↗

  The American Journal of Human Genetics · 2016 · PMID 27476653
  not yet assessed
• Polyhydramnios, Transient Antenatal Bartter’s Syndrome, andMAGED2Mutations ↗

  New England Journal of Medicine · 2016 · PMID 27120771
  not yet assessed
• Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome ↗

  Blood · 2016 · PMID 26744459
  not yet assessed
• Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome ↗

  The American Journal of Human Genetics · 2016 · PMID 27866708
  not yet assessed
• Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapy ↗

  Blood · 2016 · PMID 27226433
  not yet assessed
• Characterization of the Olfactory Receptors Expressed in Human Spermatozoa ↗

  Frontiers in Molecular Biosciences · 2016 · PMID 26779489
  not yet assessed
• Expression and functionality of TRPV1 in breast cancer cells ↗

  Breast Cancer Targets and Therapy · 2016 · PMID 28008282
  not yet assessed
• The WOPR Protein Ros1 Is a Master Regulator of Sporogenesis and Late Effector Gene Expression in the Maize Pathogen Ustilago maydis ↗

  PLoS Pathogens · 2016 · PMID 27332891
  not yet assessed
• Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt ↗

  Journal of Medical Genetics · 2016 · PMID 26843489
  not yet assessed
• Two olfactory receptors— OR 2A4/7 and OR 51B5—differentially affect epidermal proliferation and differentiation ↗

  Experimental Dermatology · 2016 · PMID 27315375
  not yet assessed
• Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer ↗

  JAMA Oncology · 2016 · PMID 28033443
  not yet assessed
• The activation of OR51E1 causes growth suppression of human prostate cancer cells ↗

  Oncotarget · 2016 · PMID 27374083
  not yet assessed
• Combining genomewide association study and lung eQTL analysis provides evidence for novel genes associated with asthma ↗

  Allergy · 2016 · PMID 27439200
  not yet assessed
• Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing ↗

  PLoS ONE · 2016 · PMID 26789268
  not yet assessed
• Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy ↗

  Acta Neuropathologica · 2016 · PMID 26993140
  not yet assessed
• Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis ↗

  Familial Cancer · 2016 · PMID 26780541
  not yet assessed
• Three-layered proteomic characterization of a novelACTN4mutation unravels its pathogenic potential in FSGS ↗

  Human Molecular Genetics · 2016 · PMID 26740551
  not yet assessed
• Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27240540
  not yet assessed
• Characterization of non-olfactory GPCRs in human sperm with a focus on GPR18 ↗

  Scientific Reports · 2016 · PMID 27572937
  not yet assessed
• A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product ↗

  Biological Chemistry · 2016 · PMID 27021259
  not yet assessed
• CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly ↗

  Molecular Genetics and Genomics · 2016 · PMID 28004182
  not yet assessed
• An unusual presentation of Kabuki syndrome with orbital cysts, microphthalmia, and cholestasis with bile duct paucity ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27530281
  not yet assessed
• Genetic heterogeneity in Pakistani microcephaly families revisited ↗

  Clinical Genetics · 2016 · PMID 28004384
  not yet assessed
• Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit ↗

  eLife · 2016 · PMID 27240166
  not yet assessed
• A large deletion in RPGR causes XLPRA in Weimaraner dogs ↗

  Canine Genetics and Epidemiology · 2016 · PMID 27398221
  not yet assessed
• Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 26792575
  not yet assessed
• Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27753196
  not yet assessed
• The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family ↗

  Scientific Reports · 2016 · PMID 27812022
  not yet assessed
• The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer ↗

  European Journal of Cancer Prevention · 2016 · PMID 27622768
  not yet assessed
• A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival ↗

  American Journal of Medical Genetics Part A · 2016 · PMID 27354339
  not yet assessed
• Genomic resources for wild populations of the house mouse, Mus musculus and its close relative Mus spretus ↗

  Scientific Data · 2016 · PMID 27622383
  not yet assessed
• Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice ↗

  Genome Research · 2016 · PMID 26755636
  not yet assessed
• Next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families. ↗

  Journal of Clinical Oncology · 2016
  not yet assessed
• Primary ciliary dyskinesia caused by loss-of-functionGAS8mutations due to defects of the nexin-dynein regulatory complex ↗

  2016
  not yet assessed
• Two distinct phenotypes in the same family are caused by the Schiff base counterion mutation p.E113K in rhodopsin.

  Kölner Universitäts PublikationsServer (Universität zu Köln) · 2016
  not yet assessed
• Author response: Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit ↗

  2016
  not yet assessed
• Cover Image, Volume 170A, Number 9, September 2016 ↗

  American Journal of Medical Genetics Part A · 2016
  not yet assessed
• Comprehensive genomic profiles of small cell lung cancer ↗

  Nature · 2015 · PMID 26168399
  not yet assessed
• Telomerase activation by genomic rearrangements in high-risk neuroblastoma ↗

  Nature · 2015 · PMID 26466568
  not yet assessed
• Mutational dynamics between primary and relapse neuroblastomas ↗

  Nature Genetics · 2015 · PMID 26121086
  not yet assessed
• Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation ↗

  Annals of Neurology · 2015 · PMID 26677014
  not yet assessed
• RNA-Seq Analysis of Human Trigeminal and Dorsal Root Ganglia with a Focus on Chemoreceptors ↗

  PLoS ONE · 2015 · PMID 26070209
  not yet assessed
• Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex ↗

  The American Journal of Human Genetics · 2015 · PMID 26387594
  not yet assessed
• Implementation of Amplicon Parallel Sequencing Leads to Improvement of Diagnosis and Therapy of Lung Cancer Patients ↗

  Journal of Thoracic Oncology · 2015 · PMID 26102443
  not yet assessed
• De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients ↗

  Neurobiology of Aging · 2015 · PMID 26362943
  not yet assessed
• Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data ↗

  Genome biology · 2015 · PMID 25650807
  not yet assessed
• TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism ↗

  Nature Genetics · 2015 · PMID 26595769
  not yet assessed
• Deep Sequencing of the Murine Olfactory Receptor Neuron Transcriptome ↗

  PLoS ONE · 2015 · PMID 25590618
  not yet assessed
• Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant ↗

  Nature Communications · 2015 · PMID 26645915
  not yet assessed
• Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes ↗

  Annals of Neurology · 2015 · PMID 25726841
  not yet assessed
• Floral induction in Arabidopsis thaliana by FLOWERING LOCUS T requires direct repression of BLADE-ON-PETIOLE genes by homeodomain protein PENNYWISE ↗

  PLANT PHYSIOLOGY · 2015 · PMID 26417007
  not yet assessed
• Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability ↗

  Human Molecular Genetics · 2015 · PMID 25839420
  not yet assessed
• A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family ↗

  Human Genetics · 2015 · PMID 26621532
  not yet assessed
• Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta ↗

  Clinical Genetics · 2015 · PMID 26467156
  not yet assessed
• Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3 ↗

  Human Genetics · 2015 · PMID 25893793
  not yet assessed
• Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene ↗

  Human Molecular Genetics · 2015 · PMID 25616960
  not yet assessed
• Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome ↗

  Molecular and Cellular Probes · 2015 · PMID 26184463
  not yet assessed
• Ion Transporter NKCC1, Modulator of Neurogenesis in Murine Olfactory Neurons ↗

  Journal of Biological Chemistry · 2015 · PMID 25713142
  not yet assessed
• Ecological transcriptomics – a non‐lethal sampling approach for endangered fire salamanders ↗

  Methods in Ecology and Evolution · 2015
  not yet assessed
• Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature ↗

  Graefe s Archive for Clinical and Experimental Ophthalmology · 2015 · PMID 26464178
  not yet assessed
• Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas‐Papas and CHAND syndromes ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 26129644
  not yet assessed
• A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation ↗

  American Journal of Medical Genetics Part A · 2015 · PMID 26640080
  not yet assessed
• Ectodysplasin signalling genes and phenotypic evolution in sculpins ( Cottus ) ↗

  Proceedings of the Royal Society B Biological Sciences · 2015 · PMID 26354934
  not yet assessed
• BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies ↗

  Genome Research · 2015 · PMID 25561519
  not yet assessed
• Errata: BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies (Genome Research (2015) 25 (155-166))

  Genome Research · 2015
  not yet assessed
• Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by mutation in glucuronyltransferase-I

  The Japanese Biochemical Society/The Molecular Biology Society of Japan · 2015
  not yet assessed
• Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids ↗

  Nature Communications · 2014 · PMID 24670920
  not yet assessed
• CD74–NRG1 Fusions in Lung Adenocarcinoma ↗

  Cancer Discovery · 2014 · PMID 24469108
  not yet assessed
• Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features ↗

  Nature Genetics · 2014 · PMID 25261934
  not yet assessed
• Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy ↗

  Nature Genetics · 2014 · PMID 25344692
  not yet assessed
• Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease ↗

  The American Journal of Human Genetics · 2014 · PMID 24387993
  not yet assessed
• Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas ↗

  International Journal of Cancer · 2014 · PMID 25529843
  not yet assessed
• DEPDC5 mutations in genetic focal epilepsies of childhood ↗

  Annals of Neurology · 2014 · PMID 24591017
  not yet assessed
• A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family ↗

  Human Molecular Genetics · 2014 · PMID 24951542
  not yet assessed
• Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy ↗

  Human Mutation · 2014 · PMID 25044745
  not yet assessed
• Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis ↗

  International Journal of Cancer · 2014 · PMID 25219767
  not yet assessed
• Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy ↗

  Neurobiology of Disease · 2014 · PMID 24561070
  not yet assessed
• Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy ↗

  Epilepsia · 2014 · PMID 24995671
  not yet assessed
• Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome ↗

  The American Journal of Human Genetics · 2014 · PMID 25439729
  not yet assessed
• Deciphering the genetic basis of microcystin tolerance ↗

  BMC Genomics · 2014 · PMID 25199885
  not yet assessed
• Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome ↗

  The American Journal of Human Genetics · 2014 · PMID 25480037
  not yet assessed
• STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly ↗

  Human Genetics · 2014 · PMID 25218063
  not yet assessed
• Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura ↗

  Journal of Investigative Dermatology · 2014 · PMID 25229252
  not yet assessed
• Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome ↗

  Nature Genetics · 2013 · PMID 23542698
  not yet assessed
• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes ↗

  Nature Genetics · 2013 · PMID 23933819
  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
• A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling ↗

  Human Molecular Genetics · 2013 · PMID 23906836
  not yet assessed
• Impaired Epidermal Ceramide Synthesis Causes Autosomal Recessive Congenital Ichthyosis and Reveals the Importance of Ceramide Acyl Chain Length ↗

  Journal of Investigative Dermatology · 2013 · PMID 23549421
  not yet assessed
• Comprehensive RNA-Seq Expression Analysis of Sensory Ganglia with a Focus on Ion Channels and GPCRs in Trigeminal Ganglia ↗

  PLoS ONE · 2013 · PMID 24260241
  not yet assessed
• Human Trace Amine-Associated Receptor TAAR5 Can Be Activated by Trimethylamine ↗

  PLoS ONE · 2013 · PMID 23393561
  not yet assessed
• CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly ↗

  Human Molecular Genetics · 2013 · PMID 23918663
  not yet assessed
• Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability ↗

  The American Journal of Human Genetics · 2013 · PMID 23830518
  not yet assessed
• RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy ↗

  PLoS ONE · 2013 · PMID 24039908
  not yet assessed
• Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure ↗

  Proceedings of the National Academy of Sciences · 2013 · PMID 23479643
  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
• The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda ↗

  BMC Genomics · 2013 · PMID 24373391
  not yet assessed
• Enrichment of target sequences for next-generation sequencing applications in research and diagnostics ↗

  Biological Chemistry · 2013 · PMID 24013102
  not yet assessed
• A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype ↗

  PLoS ONE · 2013 · PMID 24124559
  not yet assessed
• Sensitive Detection of Viral Transcripts in Human Tumor Transcriptomes ↗

  PLoS Computational Biology · 2013 · PMID 24098097
  not yet assessed
• Genome‐wide protein QTL mapping identifies human plasma kallikrein as a post‐translational regulator of serum uPAR levels ↗

  The FASEB Journal · 2013 · PMID 24249636
  not yet assessed
• Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia ↗

  Human Mutation · 2013 · PMID 23483706
  not yet assessed
• SOX9 Duplication Linked to Intersex in Deer ↗

  PLoS ONE · 2013 · PMID 24040047
  not yet assessed
• Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis ↗

  Neurogenetics · 2013 · PMID 23334465
  not yet assessed
• Fine mapping and chromosome walking towards the Ror1 locus in barley (Hordeum vulgare L.) ↗

  Theoretical and Applied Genetics · 2013 · PMID 24042571
  not yet assessed
• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes ↗

  Zurich Open Repository and Archive (University of Zurich) · 2013
  not yet assessed
• Major changes in the core developmental pathways of nematodes: Romanomermis culicivorax reveals the derived status of the Caenorhabditis elegans model ↗

  arXiv (Cornell University) · 2013
  not yet assessed
• Next-generation sequencing identifies mutations in Lrp2 as a cause for syndromic craniosynostosis ↗

  International Journal of Oral and Maxillofacial Surgery · 2013
  not yet assessed
• Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer ↗

  Nature Genetics · 2012 · PMID 22941188
  not yet assessed
• Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analyses ↗

  Nature Genetics · 2012 · PMID 22885923
  not yet assessed
• Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study ↗

  The Lancet Neurology · 2012 · PMID 22850527
  not yet assessed
• Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish ↗

  The American Journal of Human Genetics · 2012 · PMID 22482805
  not yet assessed
• A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function ↗

  The American Journal of Human Genetics · 2012 · PMID 22521416
  not yet assessed
• Genome-wide association study of lung function decline in adults with and without asthma ↗

  Journal of Allergy and Clinical Immunology · 2012 · PMID 22424883
  not yet assessed
• Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome ↗

  The American Journal of Human Genetics · 2012 · PMID 23200864
  not yet assessed
• eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation ↗

  Molecular Cell · 2012 · PMID 23063529
  not yet assessed
• Assessing the Enrichment Performance in Targeted Resequencing Experiments ↗

  Human Mutation · 2012 · PMID 22290614
  not yet assessed
• Trigeminal Ganglion Neurons of Mice Show Intracellular Chloride Accumulation and Chloride-Dependent Amplification of Capsaicin-Induced Responses ↗

  PLoS ONE · 2012 · PMID 23144843
  not yet assessed
• Next generation sequencing of the Ago2 interacting transcriptome identified chemokine family members as novel targets of neuronal microRNAs in hepatic stellate cells ↗

  Journal of Hepatology · 2012 · PMID 23041308
  not yet assessed
• Apoptotic cleavage of DNA in human lymphocyte chromatin shows high sequence specificity ↗

  Journal of Biomolecular Structure and Dynamics · 2012 · PMID 22702732
  not yet assessed
• Sequenzierung in der nächsten Generation — Forschung und Diagnostik ↗

  BIOspektrum · 2012
  not yet assessed
• GWAS Identifies That A Human Plasma Kallikrein Single Nucleotide Polymorphism Regulates Serum PLAUR Levels In Asthma And COPD ↗

  2012
  not yet assessed
• Identifizierung von neuen microRNA-Zieldomänen während der myofibroblastischen Transdifferenzierung von hepatischen Sternzellen durch "Next Generation Sequencing" ↗

  Zeitschrift für Gastroenterologie · 2012
  not yet assessed
• The Coffin-Siris and Nicolaides Baraitser syndromes – clinical phenotypes of 43 prerviously unreported patients and mutational spectrum of the SWI/SNF complex

  2012
  not yet assessed
• Deciphering the FT pathway by next generation sequencing and transcriptomics

  HAL (Le Centre pour la Communication Scientifique Directe) · 2012
  not yet assessed
• Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens ↗

  PLoS ONE · 2011 · PMID 21573178
  not yet assessed
• Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome ↗

  The American Journal of Human Genetics · 2011 · PMID 22077972
  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
• Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA ↗

  Nucleic Acids Research · 2011 · PMID 21478163
  not yet assessed
• Frequent and Focal FGFR1 Amplification Associates with Therapeutically Tractable FGFR1 Dependency in Squamous Cell Lung Cancer ↗

  Science Translational Medicine · 2010 · PMID 21160078
  not yet assessed
• Genetic determinants of circulating levels of tumor necrosis factor receptor II and their association with TNF-RII gene polymorphisms ↗

  Cytokine · 2010 · PMID 20488723
  not yet assessed
• Abstract 1169: Paratarg-7, the first autosomal-dominantly inherited risk factor for hematological malignancies: single nucelotide poylmorphism- and microsatellite-based genome-wide linkage analysis ↗

  Cancer Research · 2010
  not yet assessed
• A validated algorithm for sensitive and cost-effective mutation detection in clinical cancer specimens. ↗

  Journal of Clinical Oncology · 2010
  not yet assessed
• Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction ↗

  Nature Genetics · 2009 · PMID 19198610
  not yet assessed
• X Chromosomal Variation Is Associated with Slow Progression to AIDS in HIV-1-Infected Women ↗

  The American Journal of Human Genetics · 2009 · PMID 19679225
  not yet assessed
• Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population ↗

  Bone · 2009 · PMID 19931660
  not yet assessed
• A genome-wide linkage scan for 25-OH-D3 and 1,25-(OH)2-D3 serum levels in asthma families ↗

  The Journal of Steroid Biochemistry and Molecular Biology · 2007 · PMID 17236760
  not yet assessed
• Asthma families show transmission disequilibrium of gene variants in the vitamin D metabolism and signalling pathway ↗

  Respiratory Research · 2006 · PMID 16600026
  not yet assessed
• Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma families ↗

  BMC Pulmonary Medicine · 2005 · PMID 15634351
  not yet assessed
• Asthma is associated with single‐nucleotide polymorphisms in ADAM33 ↗

  Clinical & Experimental Allergy · 2004 · PMID 14720258
  not yet assessed
• Single nucleotide polymorphism screening and association analysis – exclusion of integrin β7 and vitamin D receptor (chromosome 12q) as candidate genes for asthma ↗

  Clinical & Experimental Allergy · 2004 · PMID 15663557
  not yet assessed
• Association of the Interleukin-1 Receptor Antagonist Gene with Asthma ↗

  American Journal of Respiratory and Critical Care Medicine · 2004 · PMID 15020290
  not yet assessed
• High-resolution snp scan of chromosome 6p21 in pooled samples from patients with complex diseases ↗

  Genomics · 2003 · PMID 12706109
  not yet assessed
• Genomewide Scans of Complex Human Diseases: True Linkage Is Hard to Find ↗

  The American Journal of Human Genetics · 2001 · PMID 11565063
  not yet assessed
• Type 2 diabetes-like hyperglycemia in a backcross model of NZO and SJL mice: characterization of a susceptibility locus on chromosome 4 and its relation with obesity. ↗

  Diabetes · 2000 · PMID 10969845
  not yet assessed
• Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism ↗

  International Journal on Disability and Human Development · 2000
  not yet assessed
• Neonatal diabetes mellitus with hypergalactosemia ↗

  European Journal of Endocrinology · 1999 · PMID 10526252
  not yet assessed