Publications
] Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet 47, 528-34 (2015).
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord 36, 514-518 (2021).
Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr 7, 303 (2019).
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol 30, e210-e213 (2016).
Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10, e001449 (2017).
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet 99, 337-51 (2016).
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet 105, 854-868 (2019).
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank. Genome Med 12, 2 (2019).
Extremity anomalies associated with Robinow syndrome. Am J Med Genet A (2020). doi:10.1002/ajmg.a.61884
Gain-of-function variants identified in vigabatrin-hypersensitive epileptic encephalopathies. Brain Commun 2, fcaa162 (2020).
Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature. Am J Med Genet A 182, 1093-1103 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A 173, 2789-2794 (2017).
