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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genet Epidemiol 40, 486-91 (2016).
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC Med Genomics 13, 120 (2020).
Discovery and population genomics of structural variation in a songbird genus. Nat Commun 11, 3403 (2020).
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137, 320-31 (2015).
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet 17, 13 (2016).
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT). PLoS One 10, e0143846 (2015).
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19, 13-19 (2017).
Efficient phasing and imputation of low-coverage sequencing data using large reference panels. Nat Genet 53, 120-126 (2021).
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet 94, 144-52 (2014).
Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Hum Mol Genet 27, 3801-3812 (2018).
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun 11, 2254 (2020).
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med 18, 443-51 (2016).
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A 170, 2965-2974 (2016).
Multiplexed Functional Assessment of Genetic Variants in CARD11. Am J Hum Genet 107, 1029-1043 (2020).
Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions. Curr Protoc Hum Genet 106, e99 (2020).
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. Hum Genet 137, 553-567 (2018).
Keratoacanthoma Shares Driver Mutations with Cutaneous Squamous Cell Carcinoma. J Invest Dermatol 136, 1737-1741 (2016).
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet 100, 352-363 (2017).
Localized structural frustration for evaluating the impact of sequence variants. Nucleic Acids Res 44, 10062-10073 (2016).
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. Pediatrics 137, (2016).
A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46, 310-5 (2014).
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet 104, 213-228 (2019).
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet 99, 831-845 (2016).
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet 25, 2331-2341 (2016).
Inherited glomerular diseases in the gilded age of genomic advancements. Pediatr Nephrol 35, 959-968 (2020).
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol 70, 1491-8 (2013).
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet 23, 342-6 (2015).
Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med 9, 26 (2017).
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet 101, 267-273 (2017).
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet 107, 46-59 (2020).
Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti. J Clin Invest 125, 1703-7 (2015).
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics 9, 42 (2016).
Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet 96, 555-64 (2015).
Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).
Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population. Birth Defects Res 109, 1257-1267 (2017).
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet 100, 978-984 (2017).