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American Journal of Medical Genetics. Part A|October 26, 2021
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigreesKamal Khan, Sarmad Mehmood, Chunyu Liu, et al.
Neurology|April 3, 2015
Loss of PCLO function underlies pontocerebellar hypoplasia type IIIMustafa Y Ahmed, Barry A Chioza, Anna Rajab, et al.
Epilepsy Research|October 20, 2009
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14Barry A Chioza, Jean Aicardi, Harald Aschauer, et al.
Brain : a Journal of Neurology|November 1, 2017
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localizationHaicui Wang, Claire G Salter, Osama Refai, et al.
Human Mutation|August 6, 2016
Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic ParaplegiaGaurav V Harlalka, Meriel E McEntagart, Neerja Gupta, et al.
The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
The Journal of Clinical Investigation|April 2, 2013
SLITRK6 mutations cause myopia and deafness in humans and miceMustafa Tekin, Barry A Chioza, Yoshifumi Matsumoto, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Brain : a Journal of Neurology|January 6, 2017
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesisMustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, et al.
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