| Year |
Citation |
Score |
| 2022 |
Breuss MW, Yang X, Schlachetzki JCM, Antaki D, Lana AJ, Xu X, Chung C, Chai G, Stanley V, Song Q, Newmeyer TF, Nguyen A, O'Brien S, Hoeksema MA, Cao B, et al. Somatic mosaicism reveals clonal distributions of neocortical development. Nature. PMID 35444276 DOI: 10.1038/s41586-022-04602-7 |
0.699 |
|
| 2021 |
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, et al. 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. PMID 34861176 DOI: 10.1016/j.ajhg.2021.11.013 |
0.521 |
|
| 2021 |
von Elsner L, Chai G, Schneeberger PE, Harms FL, Casar C, Qi M, Alawi M, Abdel-Salam GMH, Zaki MS, Arndt F, Yang X, Stanley V, Hempel M, Gleeson JG, Kutsche K. Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation. Brain : a Journal of Neurology. PMID 34694367 DOI: 10.1093/brain/awab403 |
0.671 |
|
| 2021 |
Chai G, Szenker-Ravi E, Chung C, Li Z, Wang L, Khatoo M, Marshall T, Jiang N, Yang X, McEvoy-Venneri J, Stanley V, Anzenberg P, Lang N, Wazny V, Yu J, et al. A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. The New England Journal of Medicine. 385: 1292-1301. PMID 34587386 DOI: 10.1056/NEJMoa2033911 |
0.689 |
|
| 2021 |
Yang X, Breuss MW, Xu X, Antaki D, James KN, Stanley V, Ball LL, George RD, Wirth SA, Cao B, Nguyen A, McEvoy-Venneri J, Chai G, Nahas S, Van Der Kraan L, et al. Developmental and temporal characteristics of clonal sperm mosaicism. Cell. PMID 34388390 DOI: 10.1016/j.cell.2021.07.024 |
0.725 |
|
| 2021 |
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, ... ... Chai G, et al. 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. PMID 34214448 DOI: 10.1016/j.ajhg.2021.06.009 |
0.475 |
|
| 2021 |
Wong HH, Seet SH, Maier M, Gurel A, Traspas RM, Lee C, Zhang S, Talim B, Loh AYT, Chia CY, Teoh TS, Sng D, Rensvold J, Unal S, Shishkova E, ... ... Chai G, et al. Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy. American Journal of Human Genetics. PMID 34038740 DOI: 10.1016/j.ajhg.2021.05.003 |
0.537 |
|
| 2021 |
Ghosh SG, Breuss MW, Schlachetzki Z, Chai G, Ross D, Stanley V, Sonmez FM, Topaloglu H, Zaki MS, Hosny H, Gad S, Gleeson JG. Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics : Ejhg. PMID 33824466 DOI: 10.1038/s41431-021-00832-x |
0.717 |
|
| 2020 |
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, et al. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. PMID 33220177 DOI: 10.1016/j.neuron.2020.10.035 |
0.692 |
|
| 2020 |
Ghosh SG, Lee S, Fabunan R, Chai G, Zaki MS, Abdel-Salam G, Sultan T, Ben-Omran T, Alvi JR, McEvoy-Venneri J, Stanley V, Patel A, Ross D, Ding J, Jain M, et al. 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. PMID 33188300 DOI: 10.1038/s41436-020-01010-y |
0.667 |
|
| 2018 |
Chai G, Gleeson JG. A newly discovered mechanism driving neuronal mutations in Alzheimer's disease. Nature. 563: 631-632. PMID 30478369 DOI: 10.1038/D41586-018-07334-9 |
0.539 |
|
| 2018 |
Ghosh SG, Becker K, Huang H, Dixon-Salazar T, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. 103: 826. PMID 30388405 DOI: 10.1016/j.ajhg.2018.10.002 |
0.521 |
|
| 2018 |
Ghosh SG, Becker K, Huang H, Salazar TD, Chai G, Salpietro V, Al-Gazali L, Waisfisz Q, Wang H, Vaux KK, Stanley V, Manole A, Akpulat U, Weiss MM, Efthymiou S, et al. Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics. PMID 30100084 DOI: 10.1016/J.Ajhg.2018.07.010 |
0.594 |
|
| 2018 |
Breuss MW, Nguyen A, Song Q, Nguyen T, Stanley V, James KN, Musaev D, Chai G, Wirth SA, Anzenberg P, George RD, Johansen A, Ali S, Zia-Ur-Rehman M, Sultan T, et al. Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome. American Journal of Human Genetics. PMID 30032983 DOI: 10.1016/J.Ajhg.2018.06.011 |
0.738 |
|
| 2017 |
Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, et al. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. American Journal of Human Genetics. 101: 856-865. PMID 29100095 DOI: 10.1016/J.Ajhg.2017.09.020 |
0.5 |
|
| 2016 |
Li H, Saucedo-Cuevas L, Regla-Nava JA, Chai G, Sheets N, Tang W, Terskikh AV, Shresta S, Gleeson JG. Zika Virus Infects Neural Progenitors in the Adult Mouse Brain and Alters Proliferation. Cell Stem Cell. PMID 27545505 DOI: 10.1016/J.Stem.2016.08.005 |
0.463 |
|
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