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Page 1
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder.
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; DDD Study; 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. Chaudhry A, et al. Among authors: cytrynbaum c. Clin Genet. 2015 Sep;88(3):224-33. doi: 10.1111/cge.12482. Epub 2014 Oct 14. Clin Genet. 2015. PMID: 25131214
NSD1 mutations generate a genome-wide DNA methylation signature.
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. Choufani S, et al. Among authors: cytrynbaum c. Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207. Nat Commun. 2015. PMID: 26690673 Free PMC article.
Development of a storytelling communication facilitation tool (SCFT) to facilitate discussion of complex genetic diagnoses between parents and their children: A pilot study using 22q11.2 deletion syndrome as a model condition.
Bogatan S, Shugar A, Wasim S, Ball S, Schmidt C, Chitayat D, Shuman C, Cytrynbaum C. Bogatan S, et al. Among authors: cytrynbaum c. PEC Innov. 2022 Dec 6;2:100115. doi: 10.1016/j.pecinn.2022.100115. eCollection 2023 Dec. PEC Innov. 2022. PMID: 37214507 Free PMC article.
Velocardiofacial syndrome presenting as hypocalcemia in early adolescence.
Sykes KS, Bachrach LK, Siegel-Bartelt J, Ipp M, Kooh SW, Cytrynbaum C. Sykes KS, et al. Among authors: cytrynbaum c. Arch Pediatr Adolesc Med. 1997 Jul;151(7):745-7. doi: 10.1001/archpedi.1997.02170440107021. Arch Pediatr Adolesc Med. 1997. PMID: 9232055 No abstract available.
Microdeletion 22q11.2: clinical data and deletion size.
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. Kerstjens-Frederikse WS, et al. Among authors: cytrynbaum c. J Med Genet. 1999 Sep;36(9):721-3. J Med Genet. 1999. PMID: 10507735 Free PMC article. No abstract available.
Parents' perspectives on participating in genetic research in autism.
Trottier M, Roberts W, Drmic I, Scherer SW, Weksberg R, Cytrynbaum C, Chitayat D, Shuman C, Miller FA. Trottier M, et al. Among authors: cytrynbaum c. J Autism Dev Disord. 2013 Mar;43(3):556-68. doi: 10.1007/s10803-012-1592-y. J Autism Dev Disord. 2013. PMID: 22782649
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
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. Butcher DT, et al. Among authors: cytrynbaum c. Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004. Am J Hum Genet. 2017. PMID: 28475860 Free PMC article.
58 results