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William T. Gibson
Researcher at University of British Columbia
Publications - 117
Citations - 4457
William T. Gibson is an academic researcher from University of British Columbia. The author has contributed to research in topics: Exome sequencing & Medicine. The author has an hindex of 29, co-authored 102 publications receiving 3709 citations. Previous affiliations of William T. Gibson include Alberta Children's Hospital & University of Missouri–Kansas City.
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Journal ArticleDOI
Partial leptin deficiency and human adiposity.
I. Sadaf Farooqi,Julia M. Keogh,Sri Kamath,SC Jones,William T. Gibson,Rebecca Trussell,Susan A. Jebb,Gregory Y.H. Lip,Stephen O'Rahilly +8 more
TL;DR: It is shown that differences in circulating leptin levels within the range found in normal human populations can directly influence the laying down of fat tissue (adiposity).
Journal ArticleDOI
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
Sara L. Sawyer,Taila Hartley,David A. Dyment,Chandree L. Beaulieu,Jeremy Schwartzentruber,Amanda C. Smith,H M Bedford,Geneviève Bernard,Francois P. Bernier,Bernard Brais,Dennis E. Bulman,J. Warman Chardon,David Chitayat,Johnny Deladoëy,Bridget A. Fernandez,Patrick Frosk,Michael T. Geraghty,Brenda Gerull,William T. Gibson,Robert M. Gow,Gail E. Graham,Jane Green,Elise Héon,Gabriella Horvath,A.M. Innes,Nada Jabado,Raymond H. Kim,Robert K. Koenekoop,Aneal Khan,Ordan J. Lehmann,Roberto Mendoza-Londono,Jacques L. Michaud,Sarah M. Nikkel,L S Penney,Constantin Polychronakos,Julie Richer,Guy A. Rouleau,Mark E. Samuels,Victoria Mok Siu,Oksana Suchowersky,Mark A. Tarnopolsky,Grace Yoon,Farah R. Zahir,Jacek Majewski,Kym M. Boycott +44 more
TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.
Journal ArticleDOI
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
Jan M. Friedman,Agnes Baross,Allen Delaney,Adrian Ally,Laura Arbour,Jennifer Asano,Dione K. Bailey,Sarah Barber,Patricia Birch,Mabel Brown-John,Manqiu Cao,Susanna Chan,David L. Charest,Noushin Farnoud,Nicole D. Fernandes,Stephane Flibotte,Anne Go,William T. Gibson,Robert A. Holt,Steven J.M. Jones,Giulia C. Kennedy,Martin Krzywinski,Sylvie Langlois,Haiyan I. Li,Barbara McGillivray,Tarun Nayar,Trevor J. Pugh,Evica Rajcan-Separovic,Jacqueline E. Schein,Angelique Schnerch,Asim Siddiqui,Margot I. Van Allen,Gary M. Wilson,Siu Li Yong,Farah R. Zahir,Patrice Eydoux,Marco A. Marra +36 more
TL;DR: Study of 100 children with idiopathic mental retardation and normal results of standard chromosomal analysis with whole-genome sampling analysis with Affymetrix GeneChip Human Mapping 100K arrays finds Array-based methods offer a practical means of performing a high-resolution survey of the entire genome for submicroscopic copy-number variants.
Journal ArticleDOI
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy.
William T. Gibson,I. Sadaf Farooqi,Mary Moreau,Alex M. DePaoli,Elizabeth Lawrence,Stephen O'Rahilly,Rebecca Trussell +6 more
TL;DR: A Canadian child, of Pakistani origin but unrelated to the previously reported subjects, presenting with severe hyperphagia and obesity, who was found to be homozygous for the Delta133G mutation is reported, providing additional support for the role of leptin in the regulation of the human hypothalamic-pituitary-thyroid axis.
Journal ArticleDOI
Mutations in EZH2 cause Weaver syndrome.
William T. Gibson,William T. Gibson,Rebecca L. Hood,Rebecca L. Hood,Shing Hei Zhan,Dennis E. Bulman,Anthony P. Fejes,Richard A. Moore,Andrew J. Mungall,Patrice Eydoux,Riyana Babul-Hirji,Jianghong An,Marco A. Marra,Marco A. Marra,David Chitayat,David Chitayat,Kym M. Boycott,David D. Weaver,Steven J.M. Jones,Steven J.M. Jones,Steven J.M. Jones +20 more
TL;DR: Using trio-based whole-exome sequencing to analyze two families affected by Weaver syndrome, including one of the original families reported in 1974, data show that mutations in EZH2 cause Weaver syndrome.