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Annals of Clinical and Translational Neurology|June 10, 2022
Biallelic loss of EMC10 leads to mild to severe intellectual disabilityRauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, et al.Clinical Genetics|May 17, 2020
Refinement of the clinical and mutational spectrum of UBE2A deficiency syndromeViviana Cordeddu, Erica L Macke, Francesca Clementina Radio, 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.Journal of Medical Genetics|October 13, 2017
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disabilityMark J Hamilton, Richard C Caswell, Natalie Canham, et al.Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.Orphanet Journal of Rare Diseases|May 3, 2015
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeMatthieu J Schlögel, Antonella Mendola, Elodie Fastré, et al.American Journal of Medical Genetics. Part A|July 13, 2006
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversityStephen P Robertson, Zandra A Jenkins, Timothy Morgan, et al.Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 26, 2025
Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movementsHannah M German, Maha S Zaki, Muhammad A Usmani, et al.American Journal of Medical Genetics. Part A|February 14, 2019
ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndromeGraeme E Glass, Justine O'Hara, Natalie Canham, et al.Pageof 16