Joseph G. Gleeson, MD

Affiliations: 
Neuroscience University of California, San Diego, La Jolla, CA 
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"Joseph Gleeson"
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Publications

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Rasheed A, Gumus E, Zaki M, et al. (2020) Bi-allelic variants cause delayed developmental milestones and intellectual disability. Journal of Medical Genetics
Issa MY, Chechlacz Z, Stanley V, et al. (2020) Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. Bmc Medical Genomics. 13: 68
Wenderski W, Wang L, Krokhotin A, et al. (2020) Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. Proceedings of the National Academy of Sciences of the United States of America
Zilmer M, Edmondson AC, Khetarpal SA, et al. (2020) Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. Brain : a Journal of Neurology
Garcia CAB, Carvalho SCS, Yang X, et al. (2020) mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly. Epilepsia Open. 5: 97-106
Coulter ME, Musaev D, DeGennaro EM, et al. (2020) Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Song Q, Gleeson JG. (2019) Primary Cilia and Brain Wiring, Connecting the Dots. Developmental Cell. 51: 661-663
Breuss MW, Antaki D, George RD, et al. (2019) Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine
Dias CM, Punetha J, Zheng C, et al. (2019) Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics
Ghosh SG, Wang L, Breuss MW, et al. (2019) Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics
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