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Kabuki syndrome: international consensus diagnostic criteria.

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

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

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

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.

Kurki MI, Saarentaus E, Pietilainen O, et al. Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. Nat Commun. 2019;10(1):410. doi:10.1038/s41467-018-08262-y

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

Achkar CME, Harrer M, Smith L, et al. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021;89(3):573-586. doi:10.1002/ana.25985

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Kumar R, Gardner A, Homan CC, et al. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. Hum Mutat. 2018;39(8):1126-1138. doi:10.1002/humu.23557

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018;102(5):744-759. doi:10.1016/j.ajhg.2018.02.021

Initial evaluation of the effects of an environmental-focused problem-solving intervention for transition-age young people with developmental disabilities: Project TEAM.

Kramer JM, Helfrich C, Levin M, et al. Initial evaluation of the effects of an environmental-focused problem-solving intervention for transition-age young people with developmental disabilities: Project TEAM. Dev Med Child Neurol. 2018;60(8):801-809. doi:10.1111/dmcn.13715

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA, McGlade A, Neubauer BA, et al. KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. PLoS One. 2018;13(1):e0191546. doi:10.1371/journal.pone.0191546

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017;101(5):664-685. doi:10.1016/j.ajhg.2017.09.008

Kctd13 deletion reduces synaptic transmission via increased RhoA.

Escamilla CO, Filonova I, Walker AK, et al. Kctd13 deletion reduces synaptic transmission via increased RhoA. Nature. 2017;551(7679):227-231. doi:10.1038/nature24470