F
Farah R. Zahir
Researcher at University of British Columbia
Publications - 35
Citations - 1589
Farah R. Zahir is an academic researcher from University of British Columbia. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 15, co-authored 28 publications receiving 1388 citations. Previous affiliations of Farah R. Zahir include Family Research Institute & BC Cancer Agency.
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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
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
Gregory M. Enns,Vandana Shashi,Matthew N. Bainbridge,Michael J. Gambello,Farah R. Zahir,Thomas Bast,Rebecca Crimian,Kelly Schoch,Julia Platt,Rachel Cox,Jonathan A. Bernstein,Mena Scavina,Rhonda S. Walter,Audrey L. Bibb,Melanie A. Jones,Madhuri Hegde,Brett H. Graham,Anna C. Need,Angelica Oviedo,Christian P. Schaaf,Christian P. Schaaf,Sean Michael Boyle,Atul J. Butte,Rong Chen,Michael J. Clark,Rajini R Haraksingh,Tina M. Cowan,Ping He,Sylvie Langlois,Huda Y. Zoghbi,Huda Y. Zoghbi,Michael Snyder,Richard A. Gibbs,Hudson H. Freeze,David Goldstein +34 more
TL;DR: NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum–associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease.
Journal ArticleDOI
A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1α
Farah R. Zahir,Agnes Baross,Allen Delaney,Patrice Eydoux,Nicole D. Fernandes,Trevor J. Pugh,Marco M Marra,Jan M. Friedman +7 more
TL;DR: It is suggested that neurexin1α function in correct dosage is necessary for normal neurological development and is associated with autism in several recent studies.
Journal ArticleDOI
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Farah R. Zahir,Helen V. Firth,Agnes Baross,Allen Delaney,Patrice Eydoux,William T. Gibson,Sylvie Langlois,Howard Martin,Lionel Willatt,Marco A. Marra,Jan M. Friedman +10 more
TL;DR: The non-recurrent breakpoints of these patients, the presence of normal copy number variants in the region and the local genomic structure support the notion that this region has reduced stability.