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Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

Bishop SL, Farmer C, Bal V, et al. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder. Am J Psychiatry. 2017;174(6):576-585. doi:10.1176/appi.ajp.2017.16101115

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

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

Unfolding neurodevelopmental disorders: found in translation.

Ting JT, Feng G. Unfolding neurodevelopmental disorders: found in translation. Nat Med. 2011;17(11):1352-3. doi:10.1038/nm.2553

Sonic Hedgehog Agonist Protects Against Complex Neonatal Cerebellar Injury.

Nguyen V, Sabeur K, Maltepe E, Ameri K, Bayraktar O, Rowitch DH. Sonic Hedgehog Agonist Protects Against Complex Neonatal Cerebellar Injury. Cerebellum. 2018;17(2):213-227. doi:10.1007/s12311-017-0895-0

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.

Zepeda-Mendoza CJ, Bardon A, Kammin T, et al. Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. Eur J Hum Genet. 2018;26(3):374-381. doi:10.1038/s41431-017-0068-0

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

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

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012;40(14):6608-19. doi:10.1093/nar/gks318

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.

Talkowski ME, Maussion G, Crapper L, et al. Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities. Am J Hum Genet. 2012;91(6):1128-34. doi:10.1016/j.ajhg.2012.10.016

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

Dauber A, Golzio C, Guenot C, et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet. 2013;93(5):798-811. doi:10.1016/j.ajhg.2013.09.010