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Cold Spring Harbor Perspectives in Medicine|September 11, 2019
Genetic Counseling in Neurodevelopmental DisordersAlyssa Blesson, Julie S CohenCold Spring Harbor Molecular Case Studies|January 10, 2024
The diagnostic odyssey of a patient with dihydropyrimidinase deficiency: a case report and review of the literatureDaniah Albokhari, Ohood Alharbi, Alyssa Blesson, et al.Genes|April 27, 2024
Expansion of the Genotypic and Phenotypic Spectrum of <i>ASH1L</i>-Related Syndromic Neurodevelopmental DisorderIneke Cordova, Alyssa Blesson, Juliann M Savatt, et al.HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.Genome Medicine|August 16, 2017
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disordersBret L Bostwick, Scott McLean, Jennifer E Posey, et al.European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.Nature Communications|July 14, 2019
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disordersVincenzo Salpietro, Christine L Dixon, Hui Guo, et al.American Journal of Human Genetics|October 9, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossElodie M Richard, Somayeh Bakhtiari, Ashley P L Marsh, et al.Pageof 1