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Medrxiv : the Preprint Server for Health Sciences|August 7, 2024
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variantsAlissa M D'Gama, H Westley Phillips, Yilan Wang, et al.Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.Human Mutation|August 30, 2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM Chiara Manzini, Danielle Gleason, Bernard S Chang, et al.American Journal of Human Genetics|November 26, 2008
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndromeAnas M Alazami, Amr Al-Saif, Abdulaziz Al-Semari, et al.Science (New York, N.Y.)|December 9, 2017
Aging and neurodegeneration are associated with increased mutations in single human neuronsMichael A Lodato, Rachel E Rodin, Craig L Bohrson, et al.Neuron|April 17, 2012
Somatic activation of AKT3 causes hemispheric developmental brain malformationsAnnapurna Poduri, Gilad D Evrony, Xuyu Cai, et al.Pediatric Diabetes|March 16, 2022
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this groupThomas I Hewat, Thomas W Laver, Jayne A L Houghton, et al.American Journal of Medical Genetics. Part A|June 7, 2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2William B Dobyns, Ghayda Mirzaa, Susan L Christian, et al.Nature Genetics|July 17, 2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromesSibel Kantarci, Lihadh Al-Gazali, R Sean Hill, et al.Human Molecular Genetics|November 11, 2008
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopiaRussell J Ferland, Luis Federico Batiz, Jason Neal, et al.Pageof 41