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Orphanet Journal of Rare Diseases|July 18, 2018
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophyHugh J McMillan, Aida Telegrafi, Amanda Singleton, et al.
Clinical Genetics|September 8, 2017
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetranceZ Powis, K D Farwell Hagman, C Mroske, et al.
Clinical Genetics|February 3, 2018
De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further reviewW M R van den Akker, I Brummelman, L M Martis, et al.
American Journal of Human Genetics|April 19, 2016
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 DeletionsBrieana Fregeau, Bum Jun Kim, Andrés Hernández-García, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2016
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
The Journal of Clinical Investigation|December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
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