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American Journal of Medical Genetics. Part A|November 19, 2016
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformationsNicola Dennert, Hartmut Engels, Kirsten Cremer, et al.
American Journal of Human Genetics|August 5, 2017
De Novo Mutations in YWHAG Cause Early-Onset EpilepsyIlaria Guella, Marna B McKenzie, Daniel M Evans, et al.
Brain Communications|March 5, 2025
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafishMohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, et al.
American Journal of Medical Genetics. Part A|May 25, 2021
Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variantRebecca L Poole, Philippa D K Curry, Ruta Marcinkute, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Annals of Neurology|December 15, 2018
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasiaKatherine Schon, Nienke J H van Os, Nicholas Oscroft, et al.
Human Mutation|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
American Journal of Human Genetics|July 24, 2024
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorderJihoon G Yoon, Seong-Kyun Lim, Hoseok Seo, et al.
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