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Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
European Journal of Human Genetics : EJHG|April 19, 2021
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJohanna L Jones, Mark A Corbett, Elise Yeaman, et al.
American Journal of Human Genetics|September 16, 2020
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG ExpansionsParas Garg, Bharati Jadhav, Oscar L Rodriguez, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
European Journal of Human Genetics : EJHG|October 15, 2009
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlationSinitdhorn Rujirabanjerd, John Nelson, Patrick S Tarpey, et al.
The Journal of Molecular Diagnostics : JMD|June 10, 2021
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCRTiming Liu, Furene S Wang, Felicia S H Cheah, et al.
American Journal of Human Genetics|May 6, 2008
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardationFlorence Molinari, François Foulquier, Patrick S Tarpey, et al.
Molecular Psychiatry|March 7, 2024
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathwayRebekah de Nys, Alison Gardner, Clare van Eyk, et al.
Brain : a Journal of Neurology|February 1, 2008
Epilepsy and mental retardation limited to females: an under-recognized disorderIngrid E Scheffer, Samantha J Turner, Leanne M Dibbens, et al.
Molecular Cell|May 21, 2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayIvone G Bruno, Rachid Karam, Lulu Huang, et al.
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