Publications
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Profiling complex repeat expansions in RFC1 in Parkinson's disease. NPJ Parkinsons Dis. 2024 ;10(1):108.
. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 ;111(7):1352-1369.
. Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;42(10):1616.
. Rapid evolution of mitochondrion-related genes in haplodiploid arthropods. BMC Biol. 2024 ;22(1):229.
. Rare variant contribution to the heritability of coronary artery disease. Nat Commun. 2024 ;15(1):8741.
. Rare Variant in Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circ Genom Precis Med. 2024 ;17(4):e004614.
. Semi-supervised machine learning method for predicting homogeneous ancestry groups to assess Hardy-Weinberg equilibrium in diverse whole-genome sequencing studies. Am J Hum Genet. 2024 ;111(10):2129-2138.
. Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?. Genet Med. 2024 ;26(2):101033.
. Single cell analysis of short-term dry eye induced changes in cornea immune cell populations. Front Med (Lausanne). 2024 ;11:1362336.
. Single cell dual-omic atlas of the human developing retina. Nat Commun. 2024 ;15(1):6792.
. A single cell RNA sequence atlas of the early Drosophila larval eye. BMC Genomics. 2024 ;25(1):616.
. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. Commun Biol. 2024 ;7(1):1288.
. Single-nucleotide variant calling in single-cell sequencing data with Monopogen. Nat Biotechnol. 2024 ;42(5):803-812.
. Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients. Sci Rep. 2024 ;14(1):8988.
. StratoMod: predicting sequencing and variant calling errors with interpretable machine learning. Commun Biol. 2024 ;7(1):1316.
. To be or not to be - Decoding the Trabecular Meshwork Cell Identity. bioRxiv. 2024 ;.
. Tumor-Derived Extracellular Vesicles as Liquid Biopsy for Diagnosis and Prognosis of Solid Tumors: Their Clinical Utility and Reliability as Tumor Biomarkers. Cancers (Basel). 2024 ;16(13).
. Unveiling microbial diversity: harnessing long-read sequencing technology. Nat Methods. 2024 ;21(6):954-966.
. Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations. Mol Genet Genomics. 2024 ;299(1):65.
. Utility of long-read sequencing for All of Us. Nat Commun. 2024 ;15(1):837.
. Validation of Single-Nucleotide Mosaic Variants Through Droplet Digital PCR. Curr Protoc. 2024 ;4(5):e1041.
. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 ;111(3):487-508.
. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv. 2024 ;.
. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 ;16(1):72.
. Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium. Hum Mol Genet. 2024 ;33(16):1429-1441.
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