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Sandra A. Farrell

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy
2009 · Ingo Kurth, Torsten Pamminger, et al. · Nature Genetics · 266
Vitamin B12 and the Risk of Neural Tube Defects in a Folic-Acid-Fortified Population
2007 · Joel G. Ray, Philip R. Wyatt, et al. · Epidemiology · 205
Predictive, pre‐natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
2003 · S Creighton, EW Almqvist, et al. · Clinical Genetics · 169
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
2011 · Blake C. Ballif, Jill A. Rosenfeld, et al. · Human Genetics · 153
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis
2003 · Masahide Yazaki, Sandra A. Farrell, et al. · Kidney International · 120
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Investigation ofNRXN1deletions: Clinical and molecular characterization
2013 · Mindy Preston Dabell, Jill A. Rosenfeld, et al. · American Journal of Medical Genetics Part A · 114
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aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy
2009 · Aaron Theisen, Jill A. Rosenfeld, et al. · American Journal of Medical Genetics Part A · 112
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech
2012 · Julien Thevenon, Patrick Callier, et al. · European Journal of Human Genetics · 108
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Carrier Screening for Thalassemia and Hemoglobinopathies in Canada
2008 · Sylvie Langlois, Jason C. Ford, et al. · Journal of Obstetrics and Gynaecology Canada · 103
Genetic education for primary care providers: improving attitudes, knowledge, and confidence.
2009 · June C Carroll, Andrea L Rideout, et al. · PubMed Central · 102
RETIRED: Prenatal Screening for Fetal Aneuploidy
2007 · Anne M. Summers, Sylvie Langlois, et al. · Journal of Obstetrics and Gynaecology Canada · 100
Molecular characterization of an inherited ring (19) demonstrating ring opening
2003 · Marsha D. Speevak, Carolin Smart, et al. · American Journal of Medical Genetics Part A · 95
Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
2006 · H. Bruyère, M. D. Speevak, et al. · Prenatal Diagnosis · 94
In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy in a female fetus “suddenly at risk”
1993 · Mark I. Evans, S. A. Farrell, et al. · American Journal of Medical Genetics · 88
Direct duplication of 8p21.3?p23.1: A cytogenetic anomaly associated with developmental delay without consistent clinical features
2001 · Yao-Shan Fan, Victoria M. Siu, et al. · American Journal of Medical Genetics · 83
Intrachromosomal insertion of chromosome 7
1992 · Sandra A. Farrell, Grace Chow · Clinical Genetics · 78
Infantile lethal variant of Simpson‐Golabi‐Behmel syndrome associated with hydrops fetalis
1995 · D. Terespolsky, S. A. Farrell, et al. · American Journal of Medical Genetics · 75
Balanced nonacrocentric whole‐arm reciprocal translocations: A de novo case and literature review
1995 · S. A. Farrell, Yao‐Shan Fan · American Journal of Medical Genetics · 75
Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications
1993 · S. A. Farrell, E. J. T. Winsor, et al. · American Journal of Medical Genetics · 70
Chromosome loss is responsible for segregation at theHPRT locus in Chinese hamster cell hybrids
1977 · Sandra A. Farrell, Ronald G. Worton · Somatic Cell and Molecular Genetics · 70
Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes
2001 · Yao-Shan Fan, Yang Zhang, et al. · Genetics in Medicine · 56
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Maternal Serum Screening in Ontario Using the Triple Marker Test
2003 · A M Summers, S A Farrell, et al. · Journal of Medical Screening · 52
Non‐syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair
2011 · Marsha D. Speevak, Sandra A. Farrell · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 50
Proposed structure of the F’ allotype of human CR1. Loss of a C3b binding site may be associated with altered function
1991 · W W Wong, S A Farrell · The Journal of Immunology · 44
A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2
2015 · Christine Fauth, Katharina Steindl, et al. · American Journal of Medical Genetics Part A · 43
Works count: 72
Citation count: 3,365
H-index: 34
I10-index: 54
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