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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.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.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.Nature Genetics|December 8, 2009
A restricted spectrum of NRAS mutations causes Noonan syndromeIon C Cirstea, Kerstin Kutsche, Radovan Dvorsky, et al.Brain : a Journal of Neurology|March 24, 2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentMassimo Zollo, Mustafa Ahmed, Veronica Ferrucci, et al.Pageof 4