Publications
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 ;111(3):487-508.
. The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 ;7(16):4563-4575.
. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 ;110(10):1787-1803.
. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
. Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability. Hum Mutat. 2021 ;42(6):762-776.
. Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 ;22(7):960-968.
. Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes. Genome Med. 2021 ;13(1):55.
. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 ;107(6):1096-1112.
. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 ;182(12):2919-2925.
. Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID. J Clin Invest. 2020 ;130(8):4411-4422.
. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
. Activating p53 family member TAp63: A novel therapeutic strategy for targeting p53-altered tumors. Cancer. 2019 ;125(14):2409-2422.
. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 ;6(8):1395-1406.
. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019 ;7(3):e564.
. Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 ;105(5):1048-1056.
. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. Am J Hum Genet. 2019 ;104(3):530-541.
. A nonhuman primate model of inherited retinal disease. J Clin Invest. 2019 ;129(2):863-874.
. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
. Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction. Circ Genom Precis Med. 2018 ;11(5):e001663.
. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Hum Mol Genet. 2018 ;27(11):1913-1926.
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