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European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
Clinical Genetics|October 14, 2018
Effect of inbreeding on intellectual disability revisited by trio sequencingKimia Kahrizi, Hao Hu, Masoumeh Hosseini, et al.
Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.
European Journal of Human Genetics : EJHG|March 12, 2015
Redefining the MED13L syndromeAbidemi Adegbola, Luciana Musante, Bert Callewaert, et al.
Human Molecular Genetics|July 25, 2015
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disabilityAbolfazl Heidari, Chanakan Tongsook, Reza Najafipour, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
American Journal of Medical Genetics. Part A|February 27, 2010
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardationDorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
American Journal of Human Genetics|October 22, 2019
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum DisordersTadahiro Mitani, Jaya Punetha, Ibrahim Akalin, et al.
American Journal of Human Genetics|July 10, 2012
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomaliesHyung-Goo Kim, Hyun-Taek Kim, Natalia T Leach, et al.
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