Publications
Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 ;25(2):476-490.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Activating p53 family member TAp63: A novel therapeutic strategy for targeting p53-altered tumors. Cancer. 2019 ;125(14):2409-2422.
. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 ;11(1):12.
. Molecular evolutionary trends and feeding ecology diversification in the Hemiptera, anchored by the milkweed bug genome. Genome Biol. 2019 ;20(1):64.
. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. Nat Commun. 2019 ;10(1):376.
. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019 ;179(7):1376-1382.
. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science. 2018 ;361(6409).
. A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909.
. Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development. Hum Mutat. 2017 ;38(6):669-677.
. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability. Hum Mutat. 2017 ;38(10):1365-1371.
. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 ;9(1):83.
. Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles. Cell Rep. 2017 ;18(11):2780-2794.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017 ;100(1):117-127.
. The SWI/SNF Protein PBRM1 Restrains VHL-Loss-Driven Clear Cell Renal Cell Carcinoma. Cell Rep. 2017 ;18(12):2893-2906.
. . Ampullary Cancers Harbor ELF3 Tumor Suppressor Gene Mutations and Exhibit Frequent WNT Dysregulation. Cell Rep. 2016 ;14(4):907-19.
. Genomic analyses identify molecular subtypes of pancreatic cancer. Nature. 2016 ;531(7592):47-52.
. . . Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature. 2015 ;517(7536):576-82.
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 ;56(3):1937-46.
. Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. Drosophila eyes absent is required for normal cone and pigment cell development. PLoS One. 2014 ;9(7):e102143.
.