Publications
Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 ;43(5):902-906.
. Phylogenomic analyses provide insights into primate evolution. Science. 2023 ;380(6648):913-924.
. PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects. Am J Hum Genet. 2023 ;110(10):1787-1803.
. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
. Prevalence of Rhabdomyosarcoma in the U.S. from 2017-2018: A SEER study. J Natl Med Assoc. 2023 ;115(4):403-404.
. Proteomic Analysis Identifies Circulating Proteins Associated With Plasma Amyloid-β and Incident Dementia. Biol Psychiatry Glob Open Sci. 2023 ;3(3):490-499.
. Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life. Sci Transl Med. 2023 ;15(705):eadf5681.
. Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study. Circ Genom Precis Med. 2023 ;16(4):404-405.
. Rare penetrant mutations confer severe risk of common diseases. medRxiv. 2023 ;.
. Rare penetrant mutations confer severe risk of common diseases. Science. 2023 ;380(6648):eabo1131.
. Rare variant enrichment analysis supports as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome. HGG Adv. 2023 ;4(3):100188.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study. medRxiv. 2023 ;.
. Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study. Am J Hum Genet. 2023 ;110(10):1704-1717.
. Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences. J Med Genet. 2023 ;60(6):547-556.
. The Role of Ceramide in Inherited Retinal Disease Pathology. Adv Exp Med Biol. 2023 ;1415:303-307.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. bioRxiv. 2023 ;.
. Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nat Methods. 2023 ;20(10):1483-1492.
. A single cell genomics atlas of the Drosophila larval eye reveals distinct photoreceptor developmental timelines. Nat Commun. 2023 ;14(1):7205.
. Single-cell multiomics of the human retina reveals hierarchical transcription factor collaboration in mediating cell type-specific effects of genetic variants on gene regulation. Genome Biol. 2023 ;24(1):269.
. Single-Cell RNA-Seq Identifies Pathways and Genes Contributing to the Hyperandrogenemia Associated with Polycystic Ovary Syndrome. Int J Mol Sci. 2023 ;24(13).
. Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. bioRxiv. 2023 ;.
. Single-nucleotide variant calling in single-cell sequencing data with Monopogen. Nat Biotechnol. 2023 ;.
. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
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