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Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.
Plos Genetics|April 29, 2017
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformationEthiraj Ravindran, Hao Hu, Scott A Yuzwa, et al.
American Journal of Human Genetics|May 25, 2010
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 geneJoanna Walczak-Sztulpa, Jonathan Eggenschwiler, Daniel Osborn, et al.
Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.
American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.
Plos One|February 20, 2010
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 functionMarc Trimborn, Mahdi Ghani, Diego J Walther, et al.
Clinical Genetics|April 6, 2019
Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian familiesMaryam Beheshtian, Zohreh Fattahi, Mahsa Fadaee, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
European Journal of Human Genetics : EJHG|December 3, 2009
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencingWei Chen, Reinhard Ullmann, Claudia Langnick, et al.
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