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Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.The New England Journal of Medicine|September 29, 2021
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt SecretionGuoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, et al.Nature Communications|December 1, 2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar HypoplasiaEkin Ucuncu, Karthyayani Rajamani, Miranda S C Wilson, et al.Nature Communications|February 14, 2019
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathyJennifer Friedman, Desiree E Smith, Mahmoud Y Issa, et al.Nature Medicine|December 25, 2019
Autism risk in offspring can be assessed through quantification of male sperm mosaicismMartin W Breuss, Danny Antaki, Renee D George, et al.European Journal of Human Genetics : EJHG|January 19, 2018
Biallelic variants in KIF14 cause intellectual disability with microcephalyPeriklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, et al.Brain : a Journal of Neurology|October 23, 2002
Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with femalesMaria Daniela D'Agostino, Andrea Bernasconi, Soma Das, et al.Science Translational Medicine|June 16, 2012
Exome sequencing can improve diagnosis and alter patient managementTracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, et al.Brain : a Journal of Neurology|July 17, 2023
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmissionJames Fasham, Antje K Huebner, Lutz Liebmann, et al.Scientific Data|November 20, 2023
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseasesMcKinzie A Garrison, Yeongjun Jang, Taejeong Bae, et al.Pageof 31