Guoliang Chai
Affiliations: | 2015-2021 | Neurosciences | University of California, San Diego, La Jolla, CA |
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| Breuss MW, Yang X, Schlachetzki JCM, et al. (2022) Somatic mosaicism reveals clonal distributions of neocortical development. Nature |
| Ghosh SG, Becker K, Huang H, et al. (2021) Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 108: 2385 |
| von Elsner L, Chai G, Schneeberger PE, et al. (2021) Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. Brain : a Journal of Neurology |
| Chai G, Szenker-Ravi E, Chung C, et al. (2021) A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. The New England Journal of Medicine. 385: 1292-1301 |
| Yang X, Breuss MW, Xu X, et al. (2021) Developmental and temporal characteristics of clonal sperm mosaicism. Cell |
| 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. 108: 1356 |
| 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 |
| 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 |
| 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 |