Publications
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. 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 genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBioMedicine. 2021 ;63:103157.
. Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program. Genome Med. 2021 ;13(1):136.
. Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 ;12(1):51.
. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 ;7(5):610-627.
. 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.
. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 ;49(1):23-24k.
. 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.
. Comparison of Methods To Collect Fecal Samples for Microbiome Studies Using Whole-Genome Shotgun Metagenomic Sequencing. mSphere. 2020 ;5(1).
. Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. Am J Med Genet A. 2020 ;182(12):2919-2925.
. Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet. 2020 ;16(5):e1008742.
. Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 2020 ;141(1):42-66.
. Cytogenetically visible inversions are formed by multiple molecular mechanisms. Hum Mutat. 2020 ;41(11):1979-1998.
. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain. 2020 ;143(1):112-130.
. Efficient gene-environment interaction tests for large biobank-scale sequencing studies. Genet Epidemiol. 2020 ;44(8):908-923.
. Epigenetic Age Acceleration and Cognitive Function in African American Adults in Midlife: The Atherosclerosis Risk in Communities Study. J Gerontol A Biol Sci Med Sci. 2020 ;75(3):473-480.
. Evaluation of mitochondrial DNA copy number estimation techniques. PLoS One. 2020 ;15(1):e0228166.
. Exome sequencing reveals a novel variant in causing intracranial aneurysm in a Chinese family. J Neurointerv Surg. 2020 ;12(2):221-226.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Genetics of schizophrenia in the South African Xhosa. Science. 2020 ;367(6477):569-573.
. Genome sequencing analysis of a family with a child displaying severe abdominal distention and recurrent hypoglycemia. Mol Genet Genomic Med. 2020 ;8(3):e1130.
. High-depth African genomes inform human migration and health. Nature. 2020 ;586(7831):741-748.
. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
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