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Human Genetics|October 27, 2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens, Aline Dubos, Fatima Abidi, et al.
European Journal of Human Genetics : EJHG|January 10, 2008
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaMette Gilling, Marlene Briciet Lauritsen, Morten Møller, et al.
American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.
Human Genetics|June 27, 2003
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonJosé A J M van den Hurk, Dorien J R van de Pol, Bernd Wissinger, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegenerationZafar Iqbal, Lucia Püttmann, Luciana Musante, et al.
Human Molecular Genetics|June 13, 2018
Biallelic missense variants in ZBTB11 can cause intellectual disability in humansZohreh Fattahi, Taimoor I Sheikh, Luciana Musante, et al.
HGG Advances|July 21, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3Divya Nair, Dong Li, Hannah Erdogan, et al.
HGG Advances|January 20, 2022
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3Divya Nair, Dong Li, Hannah Erdogan, et al.
Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
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