Publications by authors named "Sandra Farrell"

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HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.
Sandra A Farrell, Sandi Sodhi, Christian R Marshall, Andrea Guerin, Anne Slavotinek

Am J Med Genet A· November 2017

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A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Christine Fauth, Katharina Steindl, Annick Toutain, Sandra Farrell, Martina Witsch-Baumgartner

Am J Med Genet A· February 2016

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Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Christian R Marshall, Sandra A Farrell, Donna Cushing, Tara Paton, Tracy L Stockley

BMC Genomics· January 2016

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Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Ying Qiao, Eloi Mercier, Jila Dastan, Jane Hurlburt, Barbara McGillivray, Sandra Farrell

BMC Med Genet· July 2014

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Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.
Marsha D Speevak, Sandra A Farrell

Eur J Med Genet· October 2013

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Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Jiadi Wen, Fátima Lopes, Gabriela Soares, Sandra A Farrell, Cara Nelson

Orphanet J Rare Dis· July 2013

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The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.
Tianhua Huang, Wendy S Meschino, Nan Okun, Alan Dennis, Barry Hoffman, Sandra A Farrell

Prenat Diagn· May 2013

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Investigation of NRXN1 deletions: clinical and molecular characterization.
Mindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, Luis F Escobar, Dima El-Khechen, Sandra A Farrell

Am J Med Genet A· April 2013

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12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Julien Thevenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sandra Farrell

Eur J Hum Genet· January 2013

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Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes.
June C Carroll, Andrea Rideout, Brenda J Wilson, Judith Allanson, Sean Blaine, Sandra Farrell

Can Fam Physician· January 2013

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Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects.
Nathalie Lepage, Ayeshah Chaudhry, Danijela Konforte, Julie Shaw, Kika Veljkovic, Sandra A Farrell

Clin Biochem· October 2012

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Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Kate Gardiner, David Chitayat, Sanaa Choufani, Cheryl Shuman, Susan Blaser, Sandra Farrell

Am J Med Genet A· June 2012

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High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Blake C Ballif, Jill A Rosenfeld, Ryan Traylor, Aaron Theisen, Patricia I Bader, Sandra A Farrell

Hum Genet· January 2012

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A systematic review of the effectiveness of individualised survivorship care plans on quality of life of adult female breast cancer survivors.
Teri A Martin, Rose M Moran-Kelly, Joanna G Powe, Lucy M Roberts, Sandra N Farrell

JBI Libr Syst Rev· January 2012

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Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.
Marsha D Speevak, Sandra A Farrell

Am J Med Genet B Neuropsychiatr Genet· June 2011

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Genetic education for primary care providers: improving attitudes, knowledge, and confidence.
June C Carroll, Andrea L Rideout, Brenda J Wilson, Judith Md Allanson, Sean M Blaine, Sandra A Farrell

Can Fam Physician· December 2009

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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
Ingo Kurth, Torsten Pamminger, J Christopher Hennings, Désirée Soehendra, Antje K Huebner, Sandra A Farrell

Nat Genet· November 2009

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Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1.
Eppie M Yiu, Sandra A Farrell, Teesta Soman

Mov Disord· October 2009

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aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsy.
Aaron Theisen, Jill A Rosenfeld, Sandra A Farrell, Catharine J Harris, Heather H Wetzel

Am J Med Genet A· May 2009

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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH.
Christine Tyson, Ying Qiao, Chansonette Harvard, Xudong Liu, Francois P Bernier, Sandra A Farrell

Mol Cytogenet· November 2008

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Metabolic syndrome features and risk of neural tube defects.
Joel G Ray, Miles D Thompson, Marian J Vermeulen, Chris Meier, Philip R Wyatt, Sandra A Farrell

BMC Pregnancy Childbirth· September 2007

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Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population.
Joel G Ray, Philip R Wyatt, Miles D Thompson, Marian J Vermeulen, Chris Meier, Sandra A Farrell

Epidemiology· May 2007

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Contingent screening for Down syndrome.
Anne M Summers, Tianhua Huang, Chris Meier, Sandra A Farrell

Prenat Diagn· October 2005

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Molecular characterization of an inherited ring (19) demonstrating ring opening.
Marsha D Speevak, Carolin Smart, Lianne Unwin, Morag Bell, Sandra A Farrell

Am J Med Genet A· August 2003

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Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.
Małgorzata J M Nowaczyk, Barry Eng, John S Waye, Sandra A Farrell, Wilma L Sirkin

Am J Med Genet A· July 2003

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