Publications
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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain. 2024 ;147(4):1436-1456.
. Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024 ;65(5):1439-1450.
. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024 ;33(11):945-957.
. Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration. Genet Med. 2024 ;26(6):101106.
. Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease. JAMA Cardiol. 2023 ;8(3):258-267.
. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 ;146(12):5031-5043.
. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
. 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.
. Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life. Sci Transl Med. 2023 ;15(705):eadf5681.
. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2021 ;11(1):613.
. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 ;185(5):1388-1398.
. Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant. Ann Clin Transl Neurol. 2021 ;8(10):2052-2058.
. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.
. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS). J Med Genet. 2021 ;58(1):41-47.
. The Exceptional Responders Initiative: Feasibility of a National Cancer Institute Pilot Study. J Natl Cancer Inst. 2021 ;113(1):27-37.
. Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications. Genet Med. 2021 ;23(12):2404-2414.
. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population. Am J Hum Genet. 2021 ;108(10):1981-2005.
. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Ann Neurol. 2021 ;89(4):828-833.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 ;4(9).
. . Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Hum Mol Genet. 2020 ;29(3):459-470.
. Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability. Mol Genet Genomic Med. 2020 ;8(10):e1439.
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