A map of constrained coding regions in the human genome

• Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

  2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  3

  citations
• Deep structured learning for variant prioritization in Mendelian diseases

  2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  46

  citations
• The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

  2023 Journal of Neurology article Neuroscience Hereditary Neurological Disorders Open access

  11

  citations
• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

  2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access

  25

  citations
• De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome

  2022 Neurology article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  11

  citations
• Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

  2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  41

  citations

6 results