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Christian Marshall

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Articles 20
Citations 818
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Recent Articles
11.
Connor A, Katzov-Eckert H, Whelan T, Aronson M, Lau L, Marshall C, et al.
Fam Cancer . 2014 Nov; 14(1):69-75. PMID: 25380764
The identification of germline variants that predispose to cancer is important to further our understanding of tumorigenesis, guide patient management, prevent disease in unaffected relatives, and inform best practice for...
12.
McGrath L, Yu D, Marshall C, Davis L, Thiruvahindrapuram B, Li B, et al.
J Am Acad Child Adolesc Psychiatry . 2014 Jul; 53(8):910-9. PMID: 25062598
Objective: Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare...
13.
Beaulieu C, Majewski J, Schwartzentruber J, Samuels M, Fernandez B, Bernier F, et al.
Am J Hum Genet . 2014 Jun; 94(6):809-17. PMID: 24906018
Inherited monogenic disease has an enormous impact on the well-being of children and their families. Over half of the children living with one of these conditions are without a molecular...
14.
Moffatt P, Amor M, Glorieux F, Roschger P, Klaushofer K, Schwartzentruber J, et al.
Am J Hum Genet . 2013 Jan; 92(2):252-8. PMID: 23290074
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly (MDMHB) is an autosomal-dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia,...
15.
Hitz M, Lemieux-Perreault L, Marshall C, Feroz-Zada Y, Davies R, Yang S, et al.
PLoS Genet . 2012 Sep; 8(9):e1002903. PMID: 22969434
Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious...
16.
Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters R, Kutalik Z, et al.
Nature . 2011 Sep; 478(7367):97-102. PMID: 21881559
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard...
17.
Vincent J, Choufani S, Horike S, Stachowiak B, Li M, Dill F, et al.
Psychiatr Genet . 2008 May; 18(3):101-9. PMID: 18496206
Objectives: Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism. Methods: We have identified a male patient with mental retardation and autism who has...
18.
Pinto D, Marshall C, Feuk L, Scherer S
Hum Mol Genet . 2007 Oct; 16 Spec No. 2:R168-73. PMID: 17911159
Copy-number variation (CNV) is the most prevalent type of structural variation in the human genome, and contributes significantly to genetic heterogeneity. It has already been recognized that some CNVs can...
19.
Marshall C, Elias C, Le H, Omelchenko A, Hryshko L, Tibbits G
Ann N Y Acad Sci . 2002 Dec; 976:109-12. PMID: 12502547
No abstract available.
20.
Marshall C, Elias C, Le H, Omelchenko A, Hryshko L, Tibbits G
Am J Physiol Cell Physiol . 2002 Jul; 283(2):C512-20. PMID: 12107061
The cardiac Na(+)/Ca(2+) exchanger (NCX) in trout exhibits profoundly lower temperature sensitivity in comparison to the mammalian NCX. In this study, we attempt to characterize the regions of the NCX...