Joseph G. Gleeson, MD

Neuroscience University of California, San Diego, La Jolla, CA 
"Joseph Gleeson"
Mean distance: 17811 (cluster 37)
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Thomas Q, Motta M, Gautier T, et al. (2022) Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. American Journal of Human Genetics
Bae T, Fasching L, Wang Y, et al. (2022) Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science (New York, N.Y.). 377: 511-517
Rosenhahn E, O'Brien TJ, Zaki MS, et al. (2022) Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications. American Journal of Human Genetics
Mintz M, Badner V, Feldman LK, et al. (2022) Lidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target. Psychopharmacology Bulletin. 52: 20-30
Breuss MW, Yang X, Stanley V, et al. (2022) Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission. Elife. 11
Di Donato N, Guerrini R, Billington CJ, et al. (2022) Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain : a Journal of Neurology
Breuss MW, Yang X, Schlachetzki JCM, et al. (2022) Somatic mosaicism reveals clonal distributions of neocortical development. Nature
Caglayan AO, Tuysuz B, Gül E, et al. (2022) Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome. Journal of Human Genetics
Almannai M, Marafi D, Abdel-Salam GMH, et al. (2022) El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: further delineation of the phenotype and genotype. Clinical Genetics
Kumar R, Corbett MA, Smith NJC, et al. (2022) Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. Npj Genomic Medicine. 7: 9
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