Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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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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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.
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Zilberstein M, Seibel MM. Transvaginal amniotic puncture for cytogenetic evaluation of missed abortions. Gynecol Obstet Invest. 1997; 44(4):217-20.