Publications
Export 674 results:
Filters: Author is Gibbs, Richard [Clear All Filters]
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 ;125(3):302-304.
. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet. 1992 ;1(8):645-6.
. Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science. 1987 ;236(4799):303-5.
. Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 ;447(7146):799-816.
. The hypofunctional effect of P335L single nucleotide polymorphism on SSTR5 function. World J Surg. 2011 ;35(8):1715-24.
. 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.
. 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 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.
. Human genetics. Primate shadow play. Science. 2003 ;299(5611):1331-3.
. 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 CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 ;15(1):62.
. Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism. J Clin Endocrinol Metab. 2015 ;100(5):E808-14.
. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. High-throughput multiplex sequencing to discover copy number variants in Drosophila. Genetics. 2009 ;182(4):935-41.
. A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 ;478(7370):476-82.
. A high-resolution map of human chromosome 12. Nature. 2001 ;409(6822):945-6.
. High-Quality Draft Genome Sequence of Francisella tularensis subsp. holarctica Strain OR96-0246. Genome Announc. 2015 ;3(4).
. High-precision, whole-genome sequencing of laboratory strains facilitates genetic studies. PLoS Genet. 2008 ;4(8):e1000139.
. Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay. Genome Res. 2005 ;15(2):269-75.
.