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Andrea Shugar

TitleGenetic Counsellor
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Gabaton N, Kannu P, Pope E, Shugar A, Lara-Corrales I. A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease. Pediatr Dermatol. 2020 Jun 29. PMID: 32598042.
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    2. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. Correction: 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. Genet Med. 2019 03; 21(3):764-765. PMID: 30275510.
      View in: PubMed
    3. Marwaha A, Malach J, Shugar A, Hedges S, Weinstein M, Parkin PC, Pope E, Lara-Corrales I, Kannu P. Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1. Br J Dermatol. 2018 11; 179(5):1216-1217. PMID: 29957862.
      View in: PubMed
    4. Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM. 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. Genet Med. 2019 04; 21(4):867-876. PMID: 30190611.
      View in: PubMed
    5. Lara-Corrales I, Moazzami M, García-Romero MT, Pope E, Parkin P, Shugar A, Kannu P. Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience. J Cutan Med Surg. 2017 Sep/Oct; 21(5):379-382. PMID: 28448720.
      View in: PubMed
    6. Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P. Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype. Am J Med Genet A. 2017 Mar; 173(3):740-743. PMID: 28211990.
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    7. Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. Br J Dermatol. 2017 04; 176(4):1077-1078. PMID: 27423141.
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    8. Shugar A. Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity. J Genet Couns. 2017 Apr; 26(2):215-223. PMID: 27891554.
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    9. Shugar AL, Quercia N, Trevors C, Rabideau MM, Ahmed S. Risk for Patient Harm in Canadian Genetic Counseling Practice: It's Time to Consider Regulation. J Genet Couns. 2017 02; 26(1):93-104. PMID: 27271536.
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    10. Buijs PCM, Boot E, Shugar A, Fung WLA, Bassett AS. Internet Safety Issues for Adolescents and Adults with Intellectual Disabilities. J Appl Res Intellect Disabil. 2017 Mar; 30(2):416-418. PMID: 26914835.
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    11. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    12. Shugar AL, Shapiro JM, Cytrynbaum C, Hedges S, Weksberg R, Fishman L. An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome. Am J Med Genet A. 2015 Jul; 167(7):1560-4. PMID: 25944702.
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    13. Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, Shugar A, Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn DM, Bassett AS. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015 Aug; 17(8):599-609. PMID: 25569435.
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    14. Weemaes CM, van Tol MJ, Wang J, van Ostaijen-ten Dam MM, van Eggermond MC, Thijssen PE, Aytekin C, Brunetti-Pierri N, van der Burg M, Graham Davies E, Ferster A, Furthner D, Gimelli G, Gennery A, Kloeckener-Gruissem B, Meyn S, Powell C, Reisli I, Schuetz C, Schulz A, Shugar A, van den Elsen PJ, van der Maarel SM. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 2013 Nov; 21(11):1219-25. PMID: 23486536.
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    15. Injeyan MC, Shuman C, Shugar A, Chitayat D, Atenafu EG, Kaiser A. Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control. J Genet Couns. 2011 Oct; 20(5):526-40. PMID: 21701957.
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    16. Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A. 2011 Jun; 155A(6):1352-9. PMID: 21548021.
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    17. Zaleski C, Bassett AS, Tam K, Shugar AL, Chow EW, McPherson E. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A. 2009 Mar; 149A(3):525-8. PMID: 19208384.
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    18. Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007 Dec 15; 143A(24):2924-30. PMID: 18000985.
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    19. Shugar AL. The family history: An integral component of paediatric health assessment. Paediatr Child Health. 2003 Jan; 8(1):33-5. PMID: 20011553.
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    20. Shen JJ, Williams BJ, Zipursky A, Doyle J, Sherman SL, Jacobs PA, Shugar AL, Soukup SW, Hassold TJ. Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am J Hum Genet. 1995 Apr; 56(4):915-25. PMID: 7717402.
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