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American Journal of Human Genetics|November 7, 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial FeaturesElizabeth E Palmer, Renee Carroll, Marie Shaw, et al.Journal of Child Neurology|April 10, 2019
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral PalsyAlastair H MacLennan, Sara Lewis, Andres Moreno-De-Luca, et al.American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.American Journal of Human Genetics|April 30, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatasePhilippe M Campeau, Guy M Lenk, James T Lu, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 28, 2012
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGHJillian Nicholl, Wendy Waters, Shanna Suwalski, et al.Proceedings of the National Academy of Sciences of the United States of America|January 18, 2018
Targeted knockout of a chemokine-like gene increases anxiety and fear responsesJung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, et al.Human Mutation|June 1, 2018
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machineryRaman Kumar, Alison Gardner, Claire C Homan, et al.Neurology|April 30, 2020
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationMichael S Hildebrand, Victoria E Jackson, Thomas S Scerri, et al.Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.Nature Genetics|March 16, 2010
PHF6 mutations in T-cell acute lymphoblastic leukemiaPieter Van Vlierberghe, Teresa Palomero, Hossein Khiabanian, et al.Pageof 29