Joseph G. Gleeson, MD
Affiliations: | Neuroscience | University of California, San Diego, La Jolla, CA |
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"Joseph Gleeson"Mean distance: 17811 (cluster 37)
Parents
Sign in to add mentorChris A. Walsh | post-doc | Harvard Medical School | |
Joseph J. Volpe | research scientist | Harvard |
Children
Sign in to add traineeCollaborators
Sign in to add collaboratorWilliam B. Dobyns | collaborator | ||
Kathleen Millen | collaborator | University of Chicago, University of Washington, Seattle Children's Research Institute | |
Enza Maria Valente | collaborator | ||
Michael M. Segal | collaborator | 2012- | SimulConsult |
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Publications
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Vong KI, Alvarez YD, Noel G, et al. (2024) Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia. Biorxiv : the Preprint Server For Biology |
Wojcik MH, Lemire G, Berger E, et al. (2024) Genome Sequencing for Diagnosing Rare Diseases. The New England Journal of Medicine. 390: 1985-1997 |
Aughey G, Cali E, Maroofian R, et al. (2024) Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder. Medrxiv : the Preprint Server For Health Sciences |
Vong KI, Lee S, Au KS, et al. (2024) Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science (New York, N.Y.). 384: 584-590 |
Chung C, Yang X, Hevner RF, et al. (2024) Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature |
Lemire G, Sanchis-Juan A, Russell K, et al. (2024) Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. American Journal of Human Genetics |
Del-Pozo-Rodriguez J, Tilly P, Lecat R, et al. (2024) Neurodevelopmental disorders associated variants in disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. Medrxiv : the Preprint Server For Health Sciences |
Wojcik MH, Lemire G, Zaki MS, et al. (2023) Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. Medrxiv : the Preprint Server For Health Sciences |
Garrison MA, Jang Y, Bae T, et al. (2023) Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. Scientific Data. 10: 813 |
Engal E, Oja KT, Maroofian R, et al. (2023) Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome. American Journal of Human Genetics |