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Epilepsia|June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancyAnnapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
European Journal of Human Genetics : EJHG|May 15, 2025
Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndromeShiyu Luo, Valérie Gailus-Durner, Bobbi McGivern, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.
Pediatrics|March 17, 2010
Clinical genetic testing for patients with autism spectrum disordersYiping Shen, Kira A Dies, Ingrid A Holm, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
American Journal of Medical Genetics. Part A|February 14, 2018
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeYuri A Zarate, Constance L Smith-Hicks, Carol Greene, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
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