Publications
Technical note: multi-alleles at the DYS385ab locus with high frequency in a Han Chinese population from southwestern China. Int J Legal Med. 2021 ;135(5):1737-1741.
. The trans-ancestral genomic architecture of glycemic traits. Nat Genet. 2021 ;53(6):840-860.
. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. 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.
. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 ;7(5):610-627.
. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
. Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato. Cell. 2020 ;182(1):145-161.e23.
. Mapping and characterization of structural variation in 17,795 human genomes. Nature. 2020 ;583(7814):83-89.
. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 ;11(1):5903.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Am J Med Genet A. 2019 ;179(10):2056-2066.
. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. Am J Hum Genet. 2019 ;105(5):1005-1015.
. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes. Am J Hum Genet. 2019 ;104(3):422-438.
. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish. Nat Commun. 2019 ;10(1):708.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 ;96(4):366-370.
. Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease. PLoS One. 2019 ;14(5):e0216222.
. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 ;216(12):2778-2799.
. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science. 2018 ;361(6409).
. Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes. Nat Commun. 2018 ;9(1):828.
. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 ;176(4):1015-1022.
. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
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