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Cheryl Shuman

TitleDirector Genetic Counselling
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 
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    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. Thain E, Shuman C, Miller K, Sappleton K, Myles-Reid D, Chitayat D, Gibbons C. Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives. J Genet Couns. 2019 10; 28(5):982-992. PMID: 31313416.
      View in: PubMed
    2. Waldman L, Shuman C, Cohn I, Kaiser A, Chitayat D, Wasim S, Hazell A. Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior. Pharmacogenomics. 2019 04; 20(5):319-329. PMID: 30983503.
      View in: PubMed
    3. Szego MJ, Meyn MS, Shuman C, Zlotnik Shaul R, Anderson JA, Bowdin S, Monfared N, Hayeems RZ. Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. Eur J Med Genet. 2019 May; 62(5):350-356. PMID: 30503855.
      View in: PubMed
    4. Weber E, Shuman C, Wasserman JD, Barrera M, Patenaude AF, Fung K, Chitayat D, Malkin D, Druker H. "A change in perspective": Exploring the experiences of adolescents with hereditary tumor predisposition. Pediatr Blood Cancer. 2019 01; 66(1):e27445. PMID: 30207072.
      View in: PubMed
    5. Roadhouse C, Shuman C, Anstey K, Sappleton K, Chitayat D, Ignagni E. Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study. J Genet Couns. 2018 Jun 16. PMID: 29909595.
      View in: PubMed
    6. Baker J, Shuman C, Chitayat D, Wasim S, Okun N, Keunen J, Hofstedter R, Silver R. Informed Decision-Making in the Context of Prenatal Chromosomal Microarray. J Genet Couns. 2018 09; 27(5):1130-1147. PMID: 29516345.
      View in: PubMed
    7. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 05; 26(5):740-744. PMID: 29453418.
      View in: PubMed
    8. Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Reply to Brioude et al. Eur J Hum Genet. 2018 04; 26(4):473-474. PMID: 29449717.
      View in: PubMed
    9. Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ. 2018 02 05; 190(5):E126-E136. PMID: 29431110.
      View in: PubMed
    10. Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. Eur J Hum Genet. 2017 12; 25(12):1303-1312. PMID: 29158552.
      View in: PubMed
    11. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
      View in: PubMed
    12. Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. Eur J Hum Genet. 2017 09; 25(9):1031-1039. PMID: 28699632.
      View in: PubMed
    13. Hoang N, Hayeems R, Davies J, Pu S, Wasim S, Velsher L, Aw J, Chénier S, Stavropoulos DJ, Babul-Hirji R, Weksberg R, Shuman C. Does personal genome testing drive service utilization in an adult preventive medicine clinic? J Community Genet. 2017 Jul; 8(3):151-158. PMID: 28374280.
      View in: PubMed
    14. Fox E, McCuaig J, Demsky R, Shuman C, Chitayat D, Maganti M, Murphy J, Rosen B, Ferguson S, Randall Armel S. Corrigendum to "The sooner the better: Genetic testing following ovarian cancer diagnosis" [Gynecol. Oncol. 137 (2015) 423-429]. Gynecol Oncol. 2017 05; 145(2):409. PMID: 28256319.
      View in: PubMed
    15. Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ. Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? J Med Ethics. 2017 08; 43(8):535-539. PMID: 27888232.
      View in: PubMed
    16. Ordal L, Keunen J, Martin N, Shehata N, Borschel GH, Clarke HM, Toi A, Shuman C, Chitayat D. Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. Am J Med Genet A. 2016 12; 170(12):3083-3089. PMID: 27530094.
      View in: PubMed
    17. Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. Am J Med Genet A. 2016 10; 170(10):2731-9. PMID: 27374371.
      View in: PubMed
    18. Johnstone B, Kaiser A, Injeyan MC, Sappleton K, Chitayat D, Stephens D, Shuman C. The Relationship Between Burnout and Occupational Stress in Genetic Counselors. J Genet Couns. 2016 08; 25(4):731-41. PMID: 27228983.
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    19. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. PMID: 27171546.
      View in: PubMed
    20. 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.
      View in: PubMed
    21. Andrighetti H, Semaka A, Stewart SE, Shuman C, Hayeems R, Austin J. Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling. J Genet Couns. 2016 10; 25(5):912-22. PMID: 26639756.
      View in: PubMed
    22. Pichini A, Shuman C, Sappleton K, Kaufman M, Chitayat D, Babul-Hirji R. Experience with genetic counseling: the adolescent perspective. J Genet Couns. 2016 06; 25(3):583-95. PMID: 26573304.
      View in: PubMed
    23. Hayeems RZ, Babul-Hirji R, Hoang N, Weksberg R, Shuman C. Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling. J Genet Couns. 2016 Apr; 25(2):298-304. PMID: 26259530.
      View in: PubMed
    24. Fox E, McCuaig J, Demsky R, Shuman C, Chitayat D, Maganti M, Murphy J, Rosen B, Ferguson S, Randall Armel S. The sooner the better: Genetic testing following ovarian cancer diagnosis. Gynecol Oncol. 2015 Jun; 137(3):423-9. PMID: 25868966.
      View in: PubMed
    25. Hayeems RZ, Hoang N, Chenier S, Stavropoulos DJ, Pu S, Weksberg R, Shuman C. Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray. Eur J Hum Genet. 2015 Sep; 23(9):1135-41. PMID: 25491637.
      View in: PubMed
    26. Anderson JA, Hayeems RZ, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. Clin Genet. 2015 Apr; 87(4):301-10. PMID: 25046648.
      View in: PubMed
    27. Agatep R, Shuman C, Steele L, Parkinson N, Weksberg R, Stockley TL. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome. Am J Med Genet A. 2014 Oct; 164A(10):2682-4. PMID: 25073799.
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    28. Szego MJ, Meyn MS, Anderson JA, Hayeems R, Shuman C, Monfared N, Bowdin S, Shaul RZ. Predictive genomic testing of children for adult onset disorders: a Canadian perspective. Am J Bioeth. 2014; 14(3):19-21. PMID: 24592833.
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    29. Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet. 2014 Mar; 133(3):321-30. PMID: 24154661.
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    30. Aiyar L, Shuman C, Hayeems R, Dupuis A, Pu S, Wodak S, Chitayat D, Velsher L, Davies J. Risk estimates for complex disorders: comparing personal genome testing and family history. Genet Med. 2014 Mar; 16(3):231-7. PMID: 24009002.
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    31. Choufani S, Shuman C, Weksberg R. Molecular findings in Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2013 May; 163C(2):131-40. PMID: 23592339.
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    32. Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. Parents' perspectives on participating in genetic research in autism. J Autism Dev Disord. 2013 Mar; 43(3):556-68. PMID: 22782649.
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    33. Carroll JC, Rideout A, Wilson BJ, Allanson J, Blaine S, Esplen MJ, Farrell S, Graham GE, MacKenzie J, Meschino WS, Prakash P, Shuman C, Taylor S, Tobin S. Maternal age-based prenatal screening for chromosomal disorders: attitudes of women and health care providers toward changes. Can Fam Physician. 2013 Jan; 59(1):e39-47. PMID: 23341678.
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    34. Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. Am J Med Genet A. 2013 Jan; 161A(1):13-20. PMID: 23239666.
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    35. Romão RL, Pippi Salle JL, Shuman C, Weksberg R, Figueroa V, Weber B, Bägli DJ, Farhat WA, Grant R, Gerstle JT, Lorenzo AJ. Nephron sparing surgery for unilateral Wilms tumor in children with predisposing syndromes: single center experience over 10 years. J Urol. 2012 Oct; 188(4 Suppl):1493-8. PMID: 22910237.
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    36. Martin N, Mikhaelian M, Cytrynbaum C, Shuman C, Chitayat DA, Weksberg R, Bassett AS. 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. J Genet Couns. 2012 Dec; 21(6):825-34. PMID: 22833231.
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    37. Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. Am J Med Genet A. 2012 Jul; 158A(7):1662-9. PMID: 22615066.
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    38. Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. Am J Med Genet A. 2012 Jun; 158A(6):1388-94. PMID: 22585446.
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    39. 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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    40. McCuaig JM, Greenwood CM, Shuman C, Chitayat D, Murphy KJ, Rosen B, Armel SR. Breast and ovarian cancer: the forgotten paternal contribution. J Genet Couns. 2011 Oct; 20(5):442-9. PMID: 21503821.
      View in: PubMed
    41. Ferreira JC, Choufani S, Grafodatskaya D, Butcher DT, Zhao C, Chitayat D, Shuman C, Kingdom J, Keating S, Weksberg R. WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics. 2011 Apr; 6(4):440-9. PMID: 21474991.
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    42. Matthew AG, Paradiso C, Currie KL, Finelli A, Hartman ME, Trachtenberg L, Shuman C, Horsburgh S, Chitayat D, Trachtenberg J, Ritvo P. Examining risk perception among men with a family history of prostate cancer. Patient Educ Couns. 2011 Nov; 85(2):251-7. PMID: 21310580.
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    43. McCuaig JM, Greenwood C, Shuman C, Chitayat D, Murphy KJ, Rosen B, Armel SR. Breast and ovarian cancer: Y do we forget about dad? Lancet Oncol. 2010 Dec; 11(12):1115-7. PMID: 20971682.
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    44. Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2010 Aug 15; 154C(3):343-54. PMID: 20803657.
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    45. Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010 Jan; 18(1):8-14. PMID: 19550435.
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    46. Carroll JC, Rideout AL, Wilson BJ, Allanson JM, Blaine SM, Esplen MJ, Farrell SA, Graham GE, MacKenzie J, Meschino W, Miller F, Prakash P, Shuman C, Summers A, Taylor S. Genetic education for primary care providers: improving attitudes, knowledge, and confidence. Can Fam Physician. 2009 Dec; 55(12):e92-9. PMID: 20008584.
      View in: PubMed
    47. Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome. Am J Med Genet A. 2009 Nov; 149A(11):2415-23. PMID: 19876907.
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    48. Ali-Khan SE, Daar AS, Shuman C, Ray PN, Scherer SW. Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr Res. 2009 Oct; 66(4):357-63. PMID: 19531980.
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    49. Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, Scherer SW. The cycle of genome-directed medicine. Genome Med. 2009 Feb 02; 1(2):16. PMID: 19341487.
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    50. Ortiz-Neira CL, Traubici J, Alan D, Moineddin R, Shuman C, Weksberg R, Epelman M. Sonographic assessment of renal growth in patients with Beckwith-Wiedemann syndrome: the Beckwith-Wiedemann syndrome renal nomogram. Clinics (Sao Paulo). 2009; 64(1):41-4. PMID: 19142550.
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    51. Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R. Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae. Dev Biol. 2008 Aug 01; 320(1):79-91. PMID: 18550048.
      View in: PubMed
    52. Blaine SM, Carroll JC, Rideout AL, Glendon G, Meschino W, Shuman C, Telner D, Van Iderstine N, Permaul J. Interactive genetic counseling role-play: a novel educational strategy for family physicians. J Genet Couns. 2008 Apr; 17(2):189-95. PMID: 18231847.
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    53. Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15. Am J Med Genet A. 2007 Dec 15; 143A(24):3010-5. PMID: 18000906.
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    54. Weksberg R, Shuman C, Wilkins-Haug L, Mann M, Croughan M, Stewart D, Rakowsky C, Leader A, Hall J, Friedman JM, Simpson JL, Holmes L, Infante-Rivard C. Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility. Fertil Steril. 2007 Jul; 88(1):27-31. PMID: 17442312.
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    55. Mezer E, Babul-Hirji R, Wise R, Chipman M, DaSilva L, Rowell M, Thackray R, Shuman CT, Levin AV. Attitudes regarding predictive testing for retinitis pigmentosa. Ophthalmic Genet. 2007 Mar; 28(1):9-15. PMID: 17454742.
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    56. McIntosh N, Dircks A, Fitzpatrick J, Shuman C. Games in clinical genetic counseling supervision. J Genet Couns. 2006 Aug; 15(4):225-43. PMID: 16897359.
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    57. Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies. Am J Med Genet A. 2006 Jul 15; 140(14):1497-503. PMID: 16770802.
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    58. Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. Cytogenet Genome Res. 2006; 113(1-4):313-7. PMID: 16575195.
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    59. Weksberg R, Shuman C, Smith AC. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2005 Aug 15; 137C(1):12-23. PMID: 16010676.
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    60. Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 02; 300(5620):767-72. PMID: 12690205.
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    61. Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome. J Pediatr. 2003 Feb; 142(2):206-8. PMID: 12584548.
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    62. Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy. J Am Soc Nephrol. 2002 Aug; 13(8):2077-84. PMID: 12138139.
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    63. Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Hum Mol Genet. 2002 May 15; 11(11):1317-25. PMID: 12019213.
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    64. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 2002 Feb; 79(2):186-96. PMID: 11829489.
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    65. Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet. 2001 Dec 15; 10(26):2989-3000. PMID: 11751681.
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    66. Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatr Dev Pathol. 2001 Nov-Dec; 4(6):550-8. PMID: 11826361.
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    67. Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet. 2001 Aug 01; 102(2):161-8. PMID: 11477610.
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    68. Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics. 2001 Jun 15; 74(3):370-6. PMID: 11414765.
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    69. Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. Analphoid 3qter markers. Am J Med Genet. 2000 Sep 11; 94(2):113-9. PMID: 10982967.
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    70. Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. Am J Med Genet. 1996 Mar 29; 62(3):217-23. PMID: 8882776.
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    71. Fitzpatrick JL, Hutton EM, Babul R, Cytrynbaum CS, Sutherland JE, Shuman CT. Counseling and screening for cystic fibrosis in patients with congenital bilateral absence of the vas deferens: Patient perceptions. J Genet Couns. 1996 Mar; 5(1):1-15. PMID: 24234558.
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    72. Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. J Pediatr. 1996 Feb; 128(2):225-9. PMID: 8636816.
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    73. Callahan JW, Archibald A, Skomorowski MA, Shuman C, Clarke JT. First trimester prenatal diagnosis of Tay-Sachs disease using the sulfated synthetic substrate for hexosaminidase A. Clin Biochem. 1990 Dec; 23(6):533-6. PMID: 2149678.
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