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American Journal of Human Genetics|April 28, 2006
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansMette Gilling, Jörn S Dullinger, Stefan Gesk, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Chromosome deletions in 13q33-34: report of four patients and review of the literatureJoanna Walczak-Sztulpa, Marzena Wisniewska, Anna Latos-Bielenska, et al.
Human Genetics|January 11, 2007
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardationVera M Kalscheuer, David FitzPatrick, Niels Tommerup, et al.
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.
American Journal of Human Genetics|May 22, 2004
High prevalence of SLC6A8 deficiency in X-linked mental retardationEfraim H Rosenberg, Ligia S Almeida, Tjitske Kleefstra, et al.
Human Mutation|February 26, 2017
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disabilityLuciana Musante, Lucia Püttmann, Kimia Kahrizi, et al.
Clinical Genetics|September 8, 2020
Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patientsMaryam Beheshtian, Tara Akhtarkhavari, Sepideh Mehvari, et al.
American Journal of Medical Genetics. Part A|September 17, 2013
Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutationGaetan Lesca, Marie-Pierre Moizard, Gerald Bussy, et al.
American Journal of Human Genetics|May 9, 2003
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer, Jiong Tao, Andrew Donnelly, et al.
Elife|August 7, 2016
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationBianca Hartmann, Timothy Wai, Hao Hu, et al.
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