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Neurogenetics|August 15, 2012
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionSandesh C S Nagamani, Ayelet Erez, Frank J Probst, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2012
Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Weimin Bi, Caroline Borgan, Amber N Pursley, et al.European Journal of Human Genetics : EJHG|October 16, 2014
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplicationsPrzemyslaw Szafranski, Sailaja Golla, Weihong Jin, et al.European Journal of Human Genetics : EJHG|January 9, 2014
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive casesJustin Pham, Chad Shaw, Amber Pursley, et al.European Journal of Human Genetics : EJHG|September 22, 2011
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, et al.European Journal of Human Genetics : EJHG|May 23, 2013
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testingJoanna Wiszniewska, Weimin Bi, Chad Shaw, et al.Journal of Medical Genetics|September 23, 2022
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequencesWeimin Bi, Bo Yuan, Pengfei Liu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2012
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1AIan M Campbell, Svetlana A Yatsenko, Patricia Hixson, et al.European Journal of Human Genetics : EJHG|August 30, 2012
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani, Chad Shaw, Xueqing Wang, et al.American Journal of Human Genetics|July 2, 2013
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensitiesWojciech Wiszniewski, Jill V Hunter, Neil A Hanchard, et al.Pageof 2