Publications
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Filters: Author is Gibbs, Richard [Clear All Filters]
The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 ;26(9):1165-9.
. Evaluation of computational genotyping of structural variation for clinical diagnoses. Gigascience. 2019 ;8(9).
. Evolutionary and biomedical insights from the rhesus macaque genome. Science. 2007 ;316(5822):222-34.
. Evolving methods for the assembly of large genomes. Cold Spring Harb Symp Quant Biol. 2003 ;68:189-94.
. Exome sequencing in children with clinically suspected maturity-onset diabetes of the young. Pediatr Diabetes. 2021 ;22(7):960-968.
. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. NPJ Genom Med. 2019 ;4:19.
. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease. J Clin Endocrinol Metab. 2019 ;104(8):3049-3067.
. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 2011 ;145(7):1036-48.
. Exome variant discrepancies due to reference-genome differences. Am J Hum Genet. 2021 ;108(7):1239-1250.
. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;191(6):1546-1556.
. Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 ;188(2):648-657.
. Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness. Clin Genet. 2013 ;83(5):457-461.
. Expression of the murine Duchenne muscular dystrophy gene in muscle and brain. Science. 1988 ;239(4846):1416-8.
. The extent of genetic variation in the CCR5 gene. Nat Genet. 1997 ;16(3):221-2.
. Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. Circ Genom Precis Med. 2023 ;16(2):e003816.
. Fine structure of the human FMR1 gene. Hum Mol Genet. 1993 ;2(8):1147-53.
. Fine structure of the human FMR1 gene. Hum Mol Genet. 1994 ;3(4):684-5.
. The finished DNA sequence of human chromosome 12. Nature. 2006 ;440(7082):346-51.
. The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities. Commun Biol. 2024 ;7(1):174.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. Eur J Hum Genet. 2020 ;28(9):1243-1264.
. Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome. Genet Med. 2022 ;24(11):2262-2273.
. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum Mol Genet. 2019 ;28(7):1212-1224.
. Gastrointestinal microbiome signatures of pediatric patients with irritable bowel syndrome. Gastroenterology. 2011 ;141(5):1782-91.
. Gene content evolution in the arthropods. Genome Biol. 2020 ;21(1):15.
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