M
Martin J. Somerville
Researcher at University of Alberta
Publications - 29
Citations - 5772
Martin J. Somerville is an academic researcher from University of Alberta. The author has contributed to research in topics: Genetic testing & Genetic counseling. The author has an hindex of 17, co-authored 25 publications receiving 5532 citations. Previous affiliations of Martin J. Somerville include Boston Children's Hospital.
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Journal ArticleDOI
Global variation in copy number in the human genome
Richard Redon,Shumpei Ishikawa,Karen R. Fitch,Lars Feuk,George H. Perry,T. Daniel Andrews,Heike Fiegler,Michael H. Shapero,Andrew R. Carson,Wenwei Chen,Eun Kyung Cho,Stephanie Dallaire,Jennifer L. Freeman,Juan R. González,Mònica Gratacòs,Jing Huang,Dimitrios Kalaitzopoulos,Daisuke Komura,Jeffrey R. MacDonald,Christian R. Marshall,Rui Mei,Lyndal Montgomery,Keunihiro Nishimura,Kohji Okamura,Fan Shen,Martin J. Somerville,Joelle Tchinda,Armand Valsesia,Cara Woodwark,Fengtang Yang,Junjun Zhang,Tatiana Zerjal,Jane Zhang,Lluís Armengol,Donald F. Conrad,Xavier Estivill,Chris Tyler-Smith,Nigel P. Carter,Hiroyuki Aburatani,Charles Lee,Keith W. Jones,Stephen W. Scherer,Matthew E. Hurles +42 more
TL;DR: A first-generation CNV map of the human genome is constructed through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia, underscoring the importance of CNV in genetic diversity and evolution and the utility of this resource for genetic disease studies.
Journal ArticleDOI
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Martin J. Somerville,Carolyn B. Mervis,Edwin J. Young,Eul-Ju Seo,Miguel Del Campo,Stephen Bamforth,Ella Peregrine,Wayne Loo,Margaret Lilley,Luis A. Pérez-Jurado,Colleen A. Morris,Stephen W. Scherer,Lucy R. Osborne +12 more
TL;DR: The results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.
Journal ArticleDOI
Microduplication and Triplication of 22q11.2: A Highly Variable Syndrome
Twila M. Yobb,Martin J. Somerville,Lionel Willatt,Helen V. Firth,Karen Harrison,Jennifer MacKenzie,Natasha Gallo,Bernice E. Morrow,Lisa G. Shaffer,Melanie Babcock,Judy Chernos,Francois P. Bernier,Kathy Sprysak,Jesse Christiansen,Shelagh Haase,Basil G. Elyas,Margaret Lilley,Steven Bamforth,Heather E. McDermid +18 more
TL;DR: The efficiency of real-time polymerase chain reaction allowed the discovery of two 22q11.2 microduplications in a series of 275 females who tested negative for fragile X syndrome, thus widening the phenotypic diversity.
Journal ArticleDOI
Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons.
Catherine Bergeron,Karmensita Beric-Maskarel,Siham Muntasser,L. Weyer,Martin J. Somerville,Maire E. Percy +5 more
TL;DR: NF-L mRNA levels were consistently low (in the third and fourth quartiles) in spheroid-bearing motor neurons, indicating that the neurofilamentous accumulations observed in ALS are not likely the result of overexpression of the NF-L gene.
Journal ArticleDOI
Chromosome 1q21.1 Contiguous Gene Deletion Is Associated With Congenital Heart Disease
Jesse Christiansen,John D. Dyck,Basil G. Elyas,Margaret Lilley,J. Stephen Bamforth,Mark Hicks,Kathleen A. Sprysak,Robert Tomaszewski,Shelagh Haase,Leanne M. Vicen-Wyhony,Martin J. Somerville +10 more
TL;DR: It is hypothesize that this 1q21.1 multigene deletion is associated with a range of cardiac defects, with anomalies of the aortic arch being a particular feature.