Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
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Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK, Chiang JJ, Meyer K, Zhang X, Walsh CA, Yankner BA, Raychaudhuri S, Hirschhorn JN, Gusella JF, Talkowski ME, Church GM. Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
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Wahlster L, Verboon JM, Ludwig LS, Black SC, Luo W, Garg K, Voit RA, Collins RL, Garimella K, Costello M, Chao KR, Goodrich JK, DiTroia SP, O'Donnell-Luria A, Talkowski ME, Michelson AD, Cantor AB, Sankaran VG. Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. J Exp Med. 2021 06 07; 218(6).
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Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R. Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy. Eur J Paediatr Neurol. 2020 Jul; 27:25-29.
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Kohlenberg TM, Trelles MP, McLarney B, Betancur C, Thurm A, Kolevzon A. Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J Neurodev Disord. 2020 02 12; 12(1):7.
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Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J. Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development. Cell Rep. 2019 09 24; 28(13):3320-3328.e4.
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Escamilla CO, Filonova I, Walker AK, Xuan ZX, Holehonnur R, Espinosa F, Liu S, Thyme SB, L?pez-Garc?a IA, Mendoza DB, Usui N, Ellegood J, Eisch AJ, Konopka G, Lerch JP, Schier AF, Speed HE, Powell CM. Kctd13 deletion reduces synaptic transmission via increased RhoA. Nature. 2017 11 09; 551(7679):227-231.
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Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB. Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. Am J Med Genet A. 2017 Dec; 173(12):3205-3210.
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Omansky GL, Abdulhayoglu E, Zhurbilo B. Phelan-McDermid Syndrome. Neonatal Netw. 2017 Mar 01; 36(2):98-100.
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Ricci G, Scionti I, Sera F, Govi M, D'Amico R, Frambolli I, Mele F, Filosto M, Vercelli L, Ruggiero L, Berardinelli A, Angelini C, Antonini G, Bucci E, Cao M, Daolio J, Di Muzio A, Di Leo R, Galluzzi G, Iannaccone E, Maggi L, Maruotti V, Moggio M, Mongini T, Morandi L, Nikolic A, Pastorello E, Ricci E, Rodolico C, Santoro L, Servida M, Siciliano G, Tomelleri G, Tupler R. Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. Brain. 2013 Nov; 136(Pt 11):3408-17.