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Page 1
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Among authors: siu mt. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
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: siu mt. 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.
Epigenetics of Autism Spectrum Disorder.
Siu MT, Weksberg R. Siu MT, et al. Adv Exp Med Biol. 2017;978:63-90. doi: 10.1007/978-3-319-53889-1_4. Adv Exp Med Biol. 2017. PMID: 28523541 Review.
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
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. Chater-Diehl E, et al. Among authors: siu mt. BMC Med Genomics. 2019 Jul 9;12(1):105. doi: 10.1186/s12920-019-0555-y. BMC Med Genomics. 2019. PMID: 31288860 Free PMC article.
Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.
Goodman SJ, Burton CL, Butcher DT, Siu MT, Lemire M, Chater-Diehl E, Turinsky AL, Brudno M, Soreni N, Rosenberg D, Fitzgerald KD, Hanna GL, Anagnostou E, Arnold PD, Crosbie J, Schachar R, Weksberg R. Goodman SJ, et al. Among authors: siu mt. J Neurodev Disord. 2020 Aug 16;12(1):23. doi: 10.1186/s11689-020-09324-3. J Neurodev Disord. 2020. PMID: 32799817 Free PMC article.
DNA Methylation of the Oxytocin Receptor Across Neurodevelopmental Disorders.
Siu MT, Goodman SJ, Yellan I, Butcher DT, Jangjoo M, Grafodatskaya D, Rajendram R, Lou Y, Zhang R, Zhao C, Nicolson R, Georgiades S, Szatmari P, Scherer SW, Roberts W, Anagnostou E, Weksberg R. Siu MT, et al. J Autism Dev Disord. 2021 Oct;51(10):3610-3623. doi: 10.1007/s10803-020-04792-x. Epub 2021 Jan 4. J Autism Dev Disord. 2021. PMID: 33394241
Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants.
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. Siu MT, et al. Clin Epigenetics. 2019 Jul 16;11(1):103. doi: 10.1186/s13148-019-0684-3. Clin Epigenetics. 2019. PMID: 31311581 Free PMC article.
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: siu mt. Nat Commun. 2015 Dec 22;6:10207. doi: 10.1038/ncomms10207. Nat Commun. 2015. PMID: 26690673 Free PMC article.
Genome-wide characteristics of de novo mutations in autism.
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW. Yuen RK, et al. Among authors: siu mt. NPJ Genom Med. 2016 Aug 3;1:160271-1602710. doi: 10.1038/npjgenmed.2016.27. NPJ Genom Med. 2016. PMID: 27525107 Free PMC article.
27 results