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Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 ;167A(11):2795-9.
. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 ;26(5):1706-1718.
. Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10. Am J Hypertens. 2008 ;21(1):117-21.
. Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura. Blood. 2012 ;120(2):440-8.
. REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. Am J Hum Genet. 2017 ;101(1):149-156.
. Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels. Circ Genom Precis Med. 2020 ;13(4):e002772.
. Sequence variation in the soluble epoxide hydrolase gene and subclinical coronary atherosclerosis: interaction with cigarette smoking. Atherosclerosis. 2007 ;190(1):26-34.
. Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant. Life Sci Alliance. 2021 ;4(9).
. Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr. 2020 ;112(1):57-65.
. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 ;78(2):303-14.
. Structure, function and diversity of the healthy human microbiome. Nature. 2012 ;486(7402):207-14.
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nat Commun. 2018 ;9(1):2098.
. Subtle changes in chromatin loop contact propensity are associated with differential gene regulation and expression. Nat Commun. 2019 ;10(1):1054.
. Subtle genetic changes enhance virulence of methicillin resistant and sensitive Staphylococcus aureus. BMC Microbiol. 2007 ;7:99.
. Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease. Mol Genet Metab. 2015 ;115(4):161-7.
. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018 ;141(9):2576-2591.
. Temporal development of the gut microbiome in early childhood from the TEDDY study. Nature. 2018 ;562(7728):583-588.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
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Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe. Adv Med Sci. 2021 ;66(1):192-198.
. Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A. 2014 ;164A(9):2328-34.
. Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome. J Clin Endocrinol Metab. 2015 ;100(1):E140-7.
. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genet Med. 2017 ;19(4):412-420.
. Whole-genome sequencing for optimized patient management. Sci Transl Med. 2011 ;3(87):87re3.
. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 ;102(1):27-43.
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