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The New England Journal of Medicine|February 7, 2009
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardationFadi F Hamdan, Julie Gauthier, Dan Spiegelman, et al.Transplantation|February 24, 2001
Safety, tolerability, and efficacy of cyclosporine microemulsion in heart transplant recipients: a randomized, multicenter, double-blind comparison with the oil-based formulation of cyclosporine--results at 24 months after transplantationH J Eisen, R E Hobbs, S F Davis, et al.Human Mutation|November 20, 2012
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiencyMartin H Berryer, Fadi F Hamdan, Laura L Klitten, et al.BMC Genomics|November 18, 2009
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm Friedman, Shelin Adam, Laura Arbour, et al.Nature Genetics|July 18, 2006
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locusYanick J Crow, Bruce E Hayward, Rekha Parmar, et al.Journal of Medical Genetics|July 5, 2022
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humansSamir Bouasker, Nisha Patel, Rebecca Greenlees, et al.Nature Reviews. Genetics|April 23, 2020
A framework for an evidence-based gene list relevant to autism spectrum disorderChristian P Schaaf, Catalina Betancur, Ryan K C Yuen, et al.American Journal of Human Genetics|March 8, 2011
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disabilityFadi F Hamdan, Julie Gauthier, Yoichi Araki, et al.American Journal of Human Genetics|April 17, 2012
SHANK1 Deletions in Males with Autism Spectrum DisorderDaisuke Sato, Anath C Lionel, Claire S Leblond, et al.American Journal of Human Genetics|July 22, 2025
The evolution of health data ecosystems: An international surveyJordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.Pageof 50