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BMC Medical Genetics|November 26, 2016
Assessment of copy number variations in 120 patients with Poland syndromeCarlotta Maria Vaccari, Elisa Tassano, Michele Torre, et al.Journal of Medical Genetics|January 9, 2007
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsLucia Ballarati, Elena Rossi, Maria Teresa Bonati, et al.Plos One|January 8, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in miceStefan Bagheri-Fam, Huijun Chen, Sean Wilson, et al.American Journal of Human Genetics|August 3, 2010
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21)Molly B Sheridan, Takema Kato, Chad Haldeman-Englert, et al.Human Molecular Genetics|March 16, 2007
Characterization of a recurrent 15q24 microdeletion syndromeAndrew J Sharp, Rebecca R Selzer, Joris A Veltman, et al.Stem Cells (Dayton, Ohio)|February 20, 2015
Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegenerationAoife Murray, Audrey Letourneau, Claudia Canzonetta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2010
A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parentsMonica Marini, Renata Bocciardi, Stefania Gimelli, et al.Journal of Medical Genetics|October 17, 2009
Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndromeBernard Thienpont, Frédérique Béna, Jeroen Breckpot, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 28, 2013
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literatureFrédérique Béna, Damien L Bruno, Mats Eriksson, et al.Archives of Neurology|November 16, 2011
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridizationPasquale Striano, Antonietta Coppola, Roberta Paravidino, et al.Pageof 7