Scala M, Khan K, Beneteau C, et al. Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:101057. doi:10.1016/j.gim.2023.101057.
Mekbib KY, Muñoz W, Allington G, et al. Human genetics and molecular genomics of Chiari malformation type 1. Trends in molecular medicine. 2023. doi:10.1016/j.molmed.2023.08.013.
Sanchis-Juan A, Megy K, Stephens J, et al. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders. American journal of human genetics. 2023;110(8):1343-1355. doi:10.1016/j.ajhg.2023.07.007.
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.
Nguyen HT, Bryois J, Kim A, et al. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders. Genome Med. 2017;9(1):114. doi:10.1186/s13073-017-0497-y.
Davies G, Lam M, Harris SE, et al. Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nat Commun. 2018;9(1):2098. doi:10.1038/s41467-018-04362-x.