Publications
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. Genet Med. 2016 ;18(10):1044-51.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
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Hypermutagenesis in mutA cells is mediated by mistranslational corruption of polymerase, and is accompanied by replication fork collapse. Mol Microbiol. 2006 ;62(6):1752-63.
. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 ;15(1):110.
. A hybrid computational strategy to address WGS variant analysis in >5000 samples. BMC Bioinformatics. 2016 ;17(1):361.
. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 ;4(1):77-94.
. Human-specific changes of genome structure detected by genomic triangulation. Science. 2007 ;316(5822):235-7.
. The human transcript database: a catalogue of full length cDNA inserts. Bioinformatics. 2000 ;16(2):176-7.
. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
. Human metabolome associates with dietary intake habits among African Americans in the atherosclerosis risk in communities study. Am J Epidemiol. 2014 ;179(12):1424-33.
. Human Lymphatic Architecture and Dynamic Transport Imaged Using Near-infrared Fluorescence. Transl Oncol. 2010 ;3(6):362-72.
. Human genome sequencing in health and disease. Annu Rev Med. 2012 ;63:35-61.
. The Human Genome Project changed everything. Nat Rev Genet. 2020 ;21(10):575-576.
. The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003 ;68:13-22.
. Human genetics. Primate shadow play. Science. 2003 ;299(5611):1331-3.
. Human generation times across the past 250,000 years. Sci Adv. 2023 ;9(1):eabm7047.
. A human dimorphism resulting from loss of an Alu. Genomics. 1992 ;14(3):590-7.
. The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs. Hum Mol Genet. 1997 ;6(9):1595-603.
. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. J Med Genet. 2022 ;59(9):878-887.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. Human adipose tissue as a reservoir for memory CD4+ T cells and HIV. AIDS. 2015 ;29(6):667-74.
. HSPA6 and its role in cancers and other diseases. Mol Biol Rep. 2022 ;49(11):10565-10577.
. Hsp90 modulates CAG repeat instability in human cells. Cell Stress Chaperones. 2010 ;15(5):753-9.
. How is the Drosophila research community making use of the genome sequence?. Genome Biol. 2003 ;4(5):319.
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