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Human Molecular Genetics|December 19, 2003
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletionSulagna C Saitta, Stacy E Harris, Ann P Gaeth, et al.American Journal of Medical Genetics. Part A|November 15, 2014
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndromeKaren W Gripp, Katherine M Robbins, Nara L Sobreira, et al.Biological Psychiatry|November 12, 2016
The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted YouthsSunny X Tang, Tyler M Moore, Monica E Calkins, et al.Journal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.American Journal of Medical Genetics. Part A|October 16, 2021
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress responseAlanna Strong, Michael E March, Christopher J Cardinale, et al.American Journal of Medical Genetics. Part A|August 19, 2024
Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature reviewAlex F Nisbet, Aravind Viswanathan, Andrew M George, et al.American Journal of Medical Genetics. Part A|March 19, 2008
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctataMichelle Nino, Claudia Matos-Miranda, Momoe Maeda, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 23, 2013
Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndromeJames J Yi, Sunny X Tang, Donna M McDonald-McGinn, et al.American Journal of Human Genetics|August 2, 2007
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosumElena Boland, Jill Clayton-Smith, Victoria G Woo, et al.Child Neuropsychology : a Journal on Normal and Abnormal Development in Childhood and Adolescence|April 23, 2005
Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion SyndromeCarrie E Bearden, Abbas F Jawad, David R Lynch, et al.Pageof 63