1.
Dias K-R, Shrestha R, Schofield D, et al. Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort. Genetics in medicine : official journal of the American College of Medical Genetics. 2024:101076. doi:10.1016/j.gim.2024.101076.
1.
Kipkemoi P, Kim HA, Christ B, et al. Phenotype and genetic analysis of data collected within the first year of NeuroDev. Neuron. 2023. doi:10.1016/j.neuron.2023.06.010.
1.
Myers SJ, Yuan H, Perszyk RE, et al. Classification of missense variants in the N-methyl-D-aspartate receptor GRIN gene family as gain- or loss-of-function. Human molecular genetics. 2023. doi:10.1093/hmg/ddad104.
1.
Adam MP, Banka S, Bjornsson HT, et al. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2019;56(2):89-95. doi:10.1136/jmedgenet-2018-105625.
1.
Khalil R, Kenny C, Hill S, et al. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. Am J Med Genet B Neuropsychiatr Genet. 2018;177(8):736-745. doi:10.1002/ajmg.b.32688.
1.
Yates M, Vasudevan PC, Chandler KE, et al. De novo mutations in HNRNPU result in a neurodevelopmental syndrome. Am J Med Genet A. 2017;173(11):3003-3012. doi:10.1002/ajmg.a.38492.
1.
Singh T, Walters JTR, Johnstone M, et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet. 2017;49(8):1167-1173. doi:10.1038/ng.3903.
1.
Zhu J, Zhou Q, Shang Y, et al. Synaptic Targeting and Function of SAPAPs Mediated by Phosphorylation-Dependent Binding to PSD-95 MAGUKs. Cell Rep. 2017;21(13):3781-3793. doi:10.1016/j.celrep.2017.11.107.
1.
Baker K, Gordon SL, Melland H, et al. SYT1-associated neurodevelopmental disorder: a case series. Brain. 2018;141(9):2576-2591. doi:10.1093/brain/awy209.
1.
Miyake N, Wolf NI, Cayami FK, et al. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics. 2017;18(4):185-194. doi:10.1007/s10048-017-0520-x.