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American Journal of Human Genetics|June 1, 2005
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGSRoberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, et al.Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.American Journal of Medical Genetics. Part A|December 21, 2013
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndromeKenji Shimizu, Keiko Wakui, Tomoki Kosho, et al.The Annals of Otology, Rhinology, and Laryngology|July 30, 2016
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic HybridizationHideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, et al.European Journal of Human Genetics : EJHG|April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui, Giuliana Gregato, Blake C Ballif, et al.Neuroscience Research|October 20, 2010
A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: altered l-serine level associated with disruption of PSAT1 gene expressionYuji Ozeki, Benjamin S Pickard, Shin-ichi Kano, et al.American Journal of Medical Genetics. Part A|January 27, 2010
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1BYukako Muramatsu, Tomoki Kosho, Miyuki Magota, et al.Journal of Human Genetics|December 15, 2010
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failureAkira Nishimura-Tadaki, Takahito Wada, Gul Bano, et al.Retrovirology|September 4, 2009
Identification of a high incidence region for retroviral vector integration near exon 1 of the LMO2 locusKoichiro Yamada, Tomonori Tsukahara, Kazuhisa Yoshino, et al.Scientific Reports|March 15, 2019
Frequency and clinical features of hearing loss caused by STRC deletionsYoh Yokota, Hideaki Moteki, Shin-Ya Nishio, et al.Pageof 7