| Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine DJ Stavropoulos, D Merico, R Jobling, S Bowdin, N Monfared, ... NPJ genomic medicine 1 (1), 1-9, 2016 | 398 | 2016 |
| Practical guidelines for managing adults with 22q11. 2 deletion syndrome WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ... Genetics in Medicine 17 (8), 599-609, 2015 | 316 | 2015 |
| Carrier screening for thalassemia and hemoglobinopathies in Canada S Langlois, JC Ford, D Chitayat, VA Désilets, SA Farrell, M Geraghty, ... Journal of obstetrics and gynaecology Canada 30 (10), 950-959, 2008 | 168 | 2008 |
| Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects CMR Weemaes, MJ Van Tol, J Wang, MM van Ostaijen-Ten Dam, ... European Journal of Human Genetics 21 (11), 1219-1225, 2013 | 162 | 2013 |
| Retired: prenatal screening for fetal aneuploidy AM Summers, S Langlois, P Wyatt, RD Wilson, V Allen, C Blight, ... Journal of obstetrics and gynaecology canada 29 (2), 146-161, 2007 | 138 | 2007 |
| Personality traits associated with genetic counselor compassion fatigue: The roles of dispositional optimism and locus of control MC Injeyan, C Shuman, A Shugar, D Chitayat, EG Atenafu, A Kaiser Journal of genetic counseling 20, 526-540, 2011 | 118 | 2011 |
| Cytogenetic and molecular studies of Down syndrome individuals with leukemia JJ Shen, BJ Williams, A Zipursky, J Doyle, SL Sherman, PA Jacobs, ... American journal of human genetics 56 (4), 915, 1995 | 106 | 1995 |
| Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation M Koczkowska, T Callens, A Gomes, A Sharp, Y Chen, AD Hicks, ... Genetics in Medicine 21 (4), 867-876, 2019 | 100 | 2019 |
| Internet safety issues for adolescents and adults with intellectual disabilities PCM Buijs, E Boot, A Shugar, WLA Fung, AS Bassett Journal of Applied Research in Intellectual Disabilities 30 (2), 416-418, 2017 | 83 | 2017 |
| Molecular diagnosis of 22q11. 2 deletion and duplication by multiplex ligation dependent probe amplification AC Stachon, B Baskin, AC Smith, A Shugar, C Cytrynbaum, L Fishman, ... American Journal of Medical Genetics Part A 143 (24), 2924-2930, 2007 | 71 | 2007 |
| The co-occurrence of early onset Parkinson disease and 22q11. 2 deletion syndrome C Zaleski, AS Bassett, K Tam, AL Shugar, EWC Chow, E McPherson American journal of medical genetics. Part A 149 (3), 525, 2009 | 68 | 2009 |
| An increased prevalence of thyroid disease in children with 22q11. 2 deletion syndrome AL Shugar, JM Shapiro, C Cytrynbaum, S Hedges, R Weksberg, ... American Journal of Medical Genetics Part A 167 (7), 1560-1564, 2015 | 34 | 2015 |
| Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR E Spencer, J Davis, F Mikhail, C Fu, R Vijzelaar, EH Zackai, H Feret, ... American Journal of Medical Genetics Part A 155 (6), 1352-1359, 2011 | 25 | 2011 |
| Teaching genetic counseling skills: Incorporating a genetic counseling adaptation continuum model to address psychosocial complexity A Shugar Journal of Genetic Counseling 26 (2), 215-223, 2017 | 23 | 2017 |
| Homozygous mutation in PRUNE1 in an Oji‐Cree male with a complex neurological phenotype G Costain, A Shugar, P Krishnan, S Mahmutoglu, S Laughlin, P Kannu American Journal of Medical Genetics Part A 173 (3), 740-743, 2017 | 23 | 2017 |
| The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability RZ Hayeems, S Luca, WJ Ungar, V Venkataramanan, K Tsiplova, ... Genetics in Medicine 24 (2), 430-438, 2022 | 14 | 2022 |
| RETIRED: Fragile X Testing in Obstetrics and Gynaecology in Canada D Chitayat, PR Wyatt, RD Wilson, JA Johnson, F Audibert, V Allen, ... Journal of Obstetrics and Gynaecology Canada 30 (9), 837-841, 2008 | 14 | 2008 |
| Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis RK Jobling, I Lara‐Corrales, MC Hsiao, A Shugar, S Hedges, L Messiaen, ... British Journal of Dermatology 176 (4), 1077-1078, 2017 | 13 | 2017 |
| Mosaic neurofibromatosis type 1 in children: a single-institution experience I Lara-Corrales, M Moazzami, MT García-Romero, E Pope, P Parkin, ... Journal of Cutaneous Medicine and Surgery 21 (5), 379-382, 2017 | 12 | 2017 |
| Risk for patient harm in Canadian genetic counseling practice: It's time to consider regulation AL Shugar, N Quercia, C Trevors, MM Rabideau, S Ahmed Journal of genetic counseling 26 (1), 93-104, 2017 | 11 | 2017 |
Gregory CostainPhysician-Scientist, The Hospital for Sick Children & University of TorontoOverená e-mailová adresa na: sickkids.ca
