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| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 82 | 2018 |
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| Mutations in GPAA1, encoding a GPI transamidase complex protein, cause developmental delay, epilepsy, cerebellar atrophy, and osteopenia TTM Nguyen, Y Murakami, E Sheridan, S Ehresmann, J Rousseau, ... The American Journal of Human Genetics 101 (5), 856-865, 2017 | 63 | 2017 |
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| Developmental and temporal characteristics of clonal sperm mosaicism X Yang, MW Breuss, X Xu, D Antaki, KN James, V Stanley, LL Ball, ... Cell 184 (18), 4772-4783. e15, 2021 | 39 | 2021 |
| Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly G Chai, A Webb, C Li, D Antaki, S Lee, MW Breuss, N Lang, V Stanley, ... Neuron 109 (2), 241-256. e9, 2021 | 39 | 2021 |
| Somatic mosaicism reveals clonal distributions of neocortical development MW Breuss, X Yang, JCM Schlachetzki, D Antaki, AJ Lana, X Xu, ... Nature 604 (7907), 689-696, 2022 | 32 | 2022 |
| A human pleiotropic multiorgan condition caused by deficient Wnt secretion G Chai, E Szenker-Ravi, C Chung, Z Li, L Wang, M Khatoo, T Marshall, ... New England Journal of Medicine 385 (14), 1292-1301, 2021 | 29 | 2021 |
| Mutations in LNPK, encoding the endoplasmic reticulum junction stabilizer lunapark, cause a recessive neurodevelopmental syndrome MW Breuss, A Nguyen, Q Song, T Nguyen, V Stanley, KN James, ... The American Journal of Human Genetics 103 (2), 296-304, 2018 | 28 | 2018 |
| Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition SG Ghosh, S Lee, R Fabunan, G Chai, MS Zaki, G Abdel-Salam, T Sultan, ... Genetics in Medicine 23 (3), 524-533, 2021 | 25 | 2021 |
| Microglia/macrophages require vitamin D signaling to restrain neuroinflammation and brain injury in a murine ischemic stroke model P Cui, W Lu, J Wang, F Wang, X Zhang, X Hou, F Xu, Y Liang, G Chai, ... Journal of Neuroinflammation 20 (1), 63, 2023 | 20 | 2023 |
| Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy HH Wong, SH Seet, M Maier, A Gurel, RM Traspas, C Lee, S Zhang, ... The American Journal of Human Genetics 108 (7), 1301-1317, 2021 | 15 | 2021 |
| Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation L von Elsner, G Chai, PE Schneeberger, FL Harms, C Casar, M Qi, ... Brain 145 (4), 1551-1563, 2022 | 10 | 2022 |
| A small scale expression screen identifies tissue specific markers in the Dugesia japonica strain Pek-1 C Ma, X Wang, S Yu, G Chai, H Su, L Zheng, W Wu Journal of Genetics and Genomics 37 (9), 621-635, 2010 | 8 | 2010 |
| Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia SG Ghosh, MW Breuss, Z Schlachetzki, G Chai, D Ross, V Stanley, ... European Journal of Human Genetics 29 (6), 957-964, 2021 | 7 | 2021 |
| A newly discovered mechanism driving neuronal mutations in Alzheimer’s disease G Chai, JG Gleeson Nature 563 (7733), 631-632, 2018 | 7 | 2018 |
Joseph G. GleesonUniversity of California, San Diego在 ucsd.edu 的电子邮件经过验证
