Publications by authors named "Brett Casey"

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Situs inversus totalis and a novel ZIC3 mutation in a family with X-linked heterotaxy.
Lisa C A D'Alessandro, Brett Casey, Victoria Mok Siu

Congenit Heart Dis· September 2013

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Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency.
Shing H Zhan, Raja T Abboud, Benjamin Jung, Brian Kuchinka, Diana Ralston, Brett Casey

Clin Biochem· April 2012

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Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.
Saadet Mercimek-Mahmutoglu, Tracy Tucker, Brett Casey

Mol Genet Metab· November 2011

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Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.
Catherine Brunel-Guitton, Brett Casey, Marion Coulter-Mackie, Hilary Vallance, Deborah Hewes

Mol Genet Metab· June 2011

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Treatment of intractable epilepsy in a female with SLC6A8 deficiency.
Saadet Mercimek-Mahmutoglu, Mary B Connolly, Kenneth J Poskitt, Gabriella A Horvath, Noel Lowry, Brett Casey

Mol Genet Metab· December 2010

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Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
Marja W Wessels, Brian Kuchinka, Rogier Heydanus, Bert J Smit, Dennis Dooijes, Brett Casey

J Med Genet· May 2010

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Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Brett Casey

Hum Mutat· December 2009

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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Bhagyalaxmi Mohapatra, Brett Casey, Hua Li, Trang Ho-Dawson, Liana Smith

Hum Mol Genet· March 2009

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A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
Laura Arbour, Saman Rezazadeh, Jodene Eldstrom, Gwen Weget-Simms, Rosemarie Rupps, Brett Casey

Genet Med· July 2008

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Development of genomic reference materials for Huntington disease genetic testing.
Lisa Kalman, Monique A Johnson, Jeanne Beck, Elizabeth Berry-Kravis, Arlene Buller, Brett Casey

Genet Med· October 2007

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Evaluation of the anatomic burden of patients with hereditary multiple exostoses.
Christine M Alvarez, Mary A De Vera, Tim R Heslip, Brett Casey

Clin Orthop Relat Res· September 2007

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A population-based study of cardiac malformations and outcomes associated with dextrocardia.
Claudine M Bohun, James E Potts, Brett M Casey, George G S Sandor

Am J Cardiol· July 2007

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Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.
Jeff Hewitt, Jennifer N M Ballard, Tanya N Nelson, Valerie C Smith, Tanya A M Griffiths, Brett Casey

Br J Haematol· February 2005

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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
Stephanie M Ware, Jianlan Peng, Lirong Zhu, Susan Fernbach, Suzanne Colicos, Brett Casey

Am J Hum Genet· January 2004

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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice.
Smita M Purandare, Stephanie M Ware, Kin Ming Kwan, Marinella Gebbia, Maria Teresa Bassi, Brett Casey

Development· May 2002

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