Publications by authors named "Sandra Marles"

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Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome.
Tamar Rubin, Stéphane Bernier, Lily Siok Hoon Lim, Michael S Salman, Edward Leung, Sandra Marles

Front Immunol· March 2025

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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
Angelika J Dawson, Karine Hovanes, Jing Liu, Sandra Marles, Cheryl Greenberg

Clin Dysmorphol· April 2021

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Parental Decision Making Regarding the Disclosure or Nondisclosure of a Mutation-Positive BRCA1/2 Test Result to Minors.
Kendra-Ann I Seenandan-Sookdeo, Thomas F Hack, Michelle Lobchuk, Leigh Murphy, Sandra Marles

Oncol Nurs Forum· May 2016

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Ataxia-telangiectasia with female fertility.
Angelika J Dawson, Sandra Marles, Michelle Tomiuk, Diane Riordan, Richard A Gatti

Am J Med Genet A· August 2015

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Trends in telehealth versus on-site clinical genetics appointments in Manitoba: a comparative study.
Alison M Elliott, Aizeddin A Mhanni, Sandra L Marles, Cheryl R Greenberg, Albert E Chudley

J Genet Couns· April 2012

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Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Sandra Marles

Orphanet J Rare Dis· August 2011

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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Sandra Marles

J Med Genet· June 2011

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Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.
Meghan E Cranston, Aizeddin A Mhanni, Sandra L Marles, Albert E Chudley

Can J Clin Pharmacol· June 2009

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Early-onset neurodegenerative disease of the cerebellum and motor axons.
Michael S Salman, Sandra L Marles, Frances A Booth, Marc R Del Bigio

Pediatr Neurol· May 2009

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Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.
Alison J Rusnak, Marie I Hadfield, Albert E Chudley, Sandra L Marles, Gregory J Reid

Fetal Diagn Ther· April 2009

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Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
Chumei Li, Sandra L Marles, Cheryl R Greenberg, Bernard N Chodirker, Jiddeke van de Kamp

Am J Med Genet A· April 2007

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Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
Sandra L Marles, Martin Reed, Jane A Evans

Am J Med Genet A· January 2003

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A not-so-"new" mental retardation syndrome.
Bernard N Chodirker, Sandra L Marles, Albert E Chudley

Am J Med Genet· July 2002

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Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
Chitra Prasad, Sandra Marles, Asuri N Prasad, Sarah Nikkel, Sally Longstaffe

Am J Med Genet· February 2002

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