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American Journal of Medical Genetics. Part A|July 17, 2009
Nicolaides-Baraitser syndrome: Delineation of the phenotypeSérgio B Sousa, Omar A Abdul-Rahman, Armand Bottani, et al.
Clinical Genetics|February 15, 2021
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 geneIsis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, et al.
Nature Genetics|May 18, 2004
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-BIan D Krantz, Jennifer McCallum, Cheryl DeScipio, et al.
American Journal of Human Genetics|September 13, 2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effectLinda L Bachinski, Bjarne Udd, Giovanni Meola, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in the NHEJ component XRCC4 cause primordial dwarfismJennie E Murray, Mirjam van der Burg, Hanna IJspeert, et al.
Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, 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.
European Journal of Human Genetics : EJHG|November 13, 2008
Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21Robert Lyle, Frédérique Béna, Sarantis Gagos, et al.
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