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Journal of Neurochemistry|October 22, 2020
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerizationYingzhou Edward Pan, Debora Tibbe, Frederike Leonie Harms, et al.
Epilepsia|July 19, 2025
Phase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE)Koko Hall, Russell Saneto, Stephanie Randle, et al.
European Journal of Human Genetics : EJHG|October 2, 2014
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3Mari J Tokita, Penny M Chow, Ghayda Mirzaa, et al.
American Journal of Medical Genetics. Part A|May 19, 2016
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutationKaren W Gripp, Laura Baker, Vinay Kandula, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CAShanlee Davis, Meredith A Ware, Jordan Zeiger, et al.
European Journal of Human Genetics : EJHG|June 24, 2021
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric featuresMaha S Zaki, Andrea Accogli, Ghayda Mirzaa, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.
Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.
American Journal of Medical Genetics. Part A|February 16, 2026
Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care UnitsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
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