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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.
European Journal of Medical Genetics|October 5, 2010
Lung disease associated with periventricular nodular heterotopia and an FLNA mutationAlice Masurel-Paulet, Eric Haan, Elizabeth M Thompson, et al.
Human Molecular Genetics|October 25, 2022
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndromeElla Thomson, Minh Tran, Gorjana Robevska, et al.
Brain : a Journal of Neurology|June 2, 2021
In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsyNa Li, Pei Zhou, Hongmei Tang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
American Journal of Human Genetics|March 18, 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGregor D Gilfillan, Kaja K Selmer, Ingrid Roxrud, et al.
BMJ Open|May 1, 2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyMichael J Friez, Susan Sklower Brooks, Roger E Stevenson, et al.
Frontiers in Molecular Neuroscience|March 3, 2020
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export FactorRaman Kumar, Elizabeth Palmer, Alison E Gardner, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
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