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Journal of Molecular Medicine (Berlin, Germany)|April 26, 2022
ASK1 is a novel molecular target for preventing aminoglycoside-induced hair cell deathJacqueline M Ogier, Yujing Gao, Eileen M Dunne, et al.
Neurology|April 17, 2015
Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTORRichard J Leventer, Thomas Scerri, Ashley P L Marsh, et al.
International Journal of Molecular Sciences|October 30, 2020
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism PhenotypeKrysta J Trevis, Natasha J Brown, Cherie C Green, et al.
Brain : a Journal of Neurology|November 8, 2023
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasiaEmma Macdonald-Laurs, Aaron E L Warren, Peter Francis, et al.
Neurology. Genetics|June 26, 2020
Prevalence of <i>RFC1</i>-mediated spinocerebellar ataxia in a North American ataxia cohortDona Aboud Syriani, Darice Wong, Sameer Andani, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIAWei Shern Lee, Sarah E M Stephenson, Katherine B Howell, et al.
European Journal of Human Genetics : EJHG|October 10, 2013
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeGabrielle R Wilson, Jasmine Sunley, Katherine R Smith, et al.
Brain Communications|February 10, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformationsMatthew Coleman, Min Wang, Penny Snell, et al.
Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.
American Journal of Human Genetics|April 9, 2011
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesisPleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, et al.
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