Sharan Goobie

Shwachman-Diamond Syndrome with Exocrine Pancreatic Dysfunction and Bone Marrow Failure Maps to the Centromeric Region of Chromosome 7

Sharan Goobie, M. Popović, Jodi Morrison et al. · The American Journal of Human Genetics · 2001 · 142 citations · Full text

Chromatin, Bone Marrow Failure, Genetics +6

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

Chelsea Lowther, Marsha Speevak, Christine M. Armour et al. · Genetics in Medicine · 2016 · 96 citations · Full text

Deletion of 15q11.2(BP1‐BP2) region: Further evidence for lack of phenotypic specificity in a pediatric population

Bita Hashemi, Anne S. Bassett, David Chitayat et al. · American Journal of Medical Genetics Part A · 2015 · 69 citations

Further Evidence, Bp1-bp2 Region, Pediatric Hematology +15

Infantile muscular dystrophy in Canadian aboriginals is an αB‐crystallinopathy

Marc R. Del Bigio, Albert E. Chudley, Harvey B. Sarnat et al. · Annals of Neurology · 2010 · 67 citations · Full text

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner et al. · The American Journal of Human Genetics · 2012 · 54 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4