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Cheryl Cytrynbaum

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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    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. Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, Lees M, Low K, Luk HM, Mark P, McConkie-Rosell A, McDonald M, Pappas J, Phillipe C, Shears D, Skotko B, Stewart F, Stewart H, Temple IK, Mau-Them FT, Verdugo RA, Weksberg R, Zarate YA, Graham JM, Tatton-Brown K. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Am J Med Genet A. 2019 Aug 09. PMID: 31400068.
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    2. Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, Brudno M, Weksberg R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics. 2019 Jul 16; 11(1):103. PMID: 31311581.
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    3. Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, Perrin L, Safina N, Townshend S, Scherer SW, Anagnostou E, Piton A, Deardorff M, Brudno M, Chitayat D, Weksberg R. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019 07 09; 12(1):105. PMID: 31288860.
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    4. Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW. Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. NPJ Genom Med. 2019; 4:9. PMID: 31044088.
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    5. Selvanayagam T, Walker S, Gazzellone MJ, Kellam B, Cytrynbaum C, Stavropoulos DJ, Li P, Birken CS, Hamilton J, Weksberg R, Scherer SW. Genome-wide copy number variation analysis identifies novel candidate loci associated with pediatric obesity. Eur J Hum Genet. 2018 11; 26(11):1588-1596. PMID: 29976977.
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    6. Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. J Med Genet. 2018 05; 55(5):316-321. PMID: 29599419.
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    7. 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.
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    8. Hoang N, Cytrynbaum C, Scherer SW. Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. Patient Educ Couns. 2018 02; 101(2):352-361. PMID: 28803755.
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    9. Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. Am J Hum Genet. 2017 May 04; 100(5):773-788. PMID: 28475860.
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    10. C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, Zarrei M, Deneault E, D'Abate L, Chan AJ, Koyanagi S, Paton T, Pereira SL, Hoang N, Engchuan W, Higginbotham EJ, Ho K, Lamoureux S, Li W, MacDonald JR, Nalpathamkalam T, Sung WW, Tsoi FJ, Wei J, Xu L, Tasse AM, Kirby E, Van Etten W, Twigger S, Roberts W, Drmic I, Jilderda S, Modi BM, Kellam B, Szego M, Cytrynbaum C, Weksberg R, Zwaigenbaum L, Woodbury-Smith M, Brian J, Senman L, Iaboni A, Doyle-Thomas K, Thompson A, Chrysler C, Leef J, Savion-Lemieux T, Smith IM, Liu X, Nicolson R, Seifer V, Fedele A, Cook EH, Dager S, Estes A, Gallagher L, Malow BA, Parr JR, Spence SJ, Vorstman J, Frey BJ, Robinson JT, Strug LJ, Fernandez BA, Elsabbagh M, Carter MT, Hallmayer J, Knoppers BM, Anagnostou E, Szatmari P, Ring RH, Glazer D, Pletcher MT, Scherer SW. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017 Apr; 20(4):602-611. PMID: 28263302.
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    11. 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.
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    12. 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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    13. Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, Reardon W, Mendoza-Londono R, Brudno M, Gibson WT, Chitayat D, Weksberg R. NSD1 mutations generate a genome-wide DNA methylation signature. Nat Commun. 2015 Dec 22; 6:10207. PMID: 26690673.
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    14. 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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    15. Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. Am J Med Genet A. 2015 Jul; 167(7):1565-9. PMID: 25899869.
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    16. 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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    17. Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, Marshall CR, Menzel M, Parkash S, Parker MJ, Raymond LF, Rideout AL, Roberts W, Rupps R, Schanze I, Schrander-Stumpel CT, Speevak MD, Stavropoulos DJ, Stevens SJ, Thomas ER, Toutain A, Vergano S, Weksberg R, Scherer SW, Vincent JB, Carter MT. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clin Genet. 2015 Sep; 88(3):224-33. PMID: 25131214.
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    18. Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013 Dec; 34(12):1632-41. PMID: 24038909.
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    19. 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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    20. Grafodatskaya D, Cytrynbaum C, Weksberg R. The health risks of ART. EMBO Rep. 2013 Feb; 14(2):129-35. PMID: 23337626.
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    21. 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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    22. 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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    23. Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Uyanik G, Weksberg R, Zirn B, Beaulieu CL, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40. PMID: 22729224.
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    24. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010 Jul 15; 466(7304):368-72. PMID: 20531469.
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    25. 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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    26. Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B, Ballabio A, Gelb BD, Neri G, Tartaglia M. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Hum Mutat. 2007 Mar; 28(3):265-72. PMID: 17054105.
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    27. Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr. 2005 Dec; 17(6):740-6. PMID: 16282780.
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    28. White SM, Graham JM, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. The adult phenotype in Costello syndrome. Am J Med Genet A. 2005 Jul 15; 136(2):128-35. PMID: 15940703.
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    29. Arnold PD, Siegel-Bartelt J, Cytrynbaum C, Teshima I, Schachar R. Velo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet. 2001 May 08; 105(4):354-62. PMID: 11378850.
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    30. Hopyan T, Dennis M, Weksberg R, Cytrynbaum C. Music skills and the expressive interpretation of music in children with Williams-Beuren syndrome: pitch, rhythm, melodic imagery, phrasing, and musical affect. Child Neuropsychol. 2001 Mar; 7(1):42-53. PMID: 11815880.
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    31. Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet. 2000 Dec; 8(12):955-63. PMID: 11175284.
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    32. Kerstjens-Frederikse WS, Kurahashi H, Driscoll DA, Budarf ML, Emanuel BS, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, Teshima I. Microdeletion 22q11.2: clinical data and deletion size. J Med Genet. 1999 Sep; 36(9):721-3. PMID: 10507735.
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    33. Chitayat D, Grisaru-Granovsky S, Ryan G, Toi A, Filler R, Seaward GR, Siegel-Bartelt J, Cytrynbaum C. Familial ileal perforation: prenatal diagnosis and postnatal follow-up. Prenat Diagn. 1998 Jan; 18(1):78-82. PMID: 9483645.
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    34. Sykes KS, Bachrach LK, Siegel-Bartelt J, Ipp M, Kooh SW, Cytrynbaum C. Velocardiofacial syndrome presenting as hypocalcemia in early adolescence. Arch Pediatr Adolesc Med. 1997 Jul; 151(7):745-7. PMID: 9232055.
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    35. 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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