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Journal of Medical Genetics|September 4, 2017
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disabilityGenay O Pilarowski, Hilary J Vernon, Carolyn D Applegate, et al.
Schizophrenia Bulletin|August 23, 2021
Dopamine D1R Receptor Stimulation as a Mechanistic Pro-cognitive Target for SchizophreniaAnissa Abi-Dargham, Jonathan A Javitch, Mark Slifstein, et al.
Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
American Journal of Human Genetics|October 6, 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental SyndromeChristiane K Bauer, Paolo Calligari, Francesca Clementina Radio, et al.
European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.
Patient Education and Counseling|September 16, 2019
Impact of patient education videos on genetic counseling outcomes after exome sequencingRebecca Hernan, Megan T Cho, Ashley L Wilson, et al.
American Journal of Human Genetics|August 25, 2015
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing LossAkemi J Tanaka, Megan T Cho, Francisca Millan, et al.
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