Joseph G. Gleeson, MD

Neuroscience University of California, San Diego, La Jolla, CA 
"Joseph Gleeson"
Mean distance: 17811 (cluster 37)
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Wong HH, Seet SH, Maier M, et al. (2021) Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy. American Journal of Human Genetics
Kour S, Rajan DS, Fortuna TR, et al. (2021) Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nature Communications. 12: 2558
Ghosh SG, Breuss MW, Schlachetzki Z, et al. (2021) Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics : Ejhg
Wang Y, Bae T, Thorpe J, et al. (2021) Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biology. 22: 92
Wang L, Li Z, Sievert D, et al. (2021) Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nature Communications. 12: 1192
Efthymiou S, Dutra-Clarke M, Maroofian R, et al. (2021) Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia
Ucuncu E, Rajamani K, Wilson MSC, et al. (2020) MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. Nature Communications. 11: 6087
Chai G, Webb A, Li C, et al. (2020) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron
Ghosh SG, Lee S, Fabunan R, et al. (2020) Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in Medicine : Official Journal of the American College of Medical Genetics
Geschwind DH, Gleeson JG. (2020) Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies. Current Opinion in Genetics & Development
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