Publications
Towards population-scale long-read sequencing. Nat Rev Genet. 2021 ;22(9):572-587.
. TQFL12, a novel synthetic derivative of TQ, inhibits triple-negative breast cancer metastasis and invasion through activating AMPK/ACC pathway. J Cell Mol Med. 2021 ;25(21):10101-10110.
. The trans-ancestral genomic architecture of glycemic traits. Nat Genet. 2021 ;53(6):840-860.
. Transcript isoforms of Reep6 have distinct functions in the retina. Hum Mol Genet. 2021 ;30(21):1907-1918.
. Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer. Cancer Res. 2021 ;81(24):6259-6272.
. Transmission event of SARS-CoV-2 Delta variant reveals multiple vaccine breakthrough infections. medRxiv. 2021 ;.
. Transmission event of SARS-CoV-2 delta variant reveals multiple vaccine breakthrough infections. BMC Med. 2021 ;19(1):255.
. Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. Am J Med Genet A. 2021 ;185(7):2241-2249.
. Variable expressivity of -associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree. BMJ Open Ophthalmol. 2021 ;6(1):e000813.
. 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.
. Variation in predicted COVID-19 risk among lemurs and lorises. Am J Primatol. 2021 ;83(6):e23255.
. Vulcan: Improved long-read mapping and structural variant calling via dual-mode alignment. Gigascience. 2021 ;10(9).
. 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.
. Accumulation of Molecular Aberrations Distinctive to Hepatocellular Carcinoma Progression. Cancer Res. 2020 ;80(18):3810-3819.
. Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. Am J Hum Genet. 2020 ;106(1):112-120.
. Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2020 ;578(7793):102-111.
. Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 ;12(1):51.
. Author Correction: A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1357.
. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun. 2020 ;11(1):5022.
. Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020 ;11(1):6232.
. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 ;7(5):610-627.
. Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy. Brain. 2020 ;143(10):e83.
. 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.
. A bidirectional Mendelian randomization study supports causal effects of kidney function on blood pressure. Kidney Int. 2020 ;98(3):708-716.
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