Year |
Citation |
Score |
2024 |
Mao D, Liu C, Wang L, Ai-Ouran R, Deisseroth C, Pasupuleti S, Kim SY, Li L, Rosenfeld JA, Meng L, Burrage LC, Wangler MF, Yamamoto S, Santana M, Perez V, et al. AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. Nejm Ai. 1. PMID 38962029 DOI: 10.1056/aioa2300009 |
0.555 |
|
2020 |
Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, et al. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. American Journal of Human Genetics. PMID 32197074 DOI: 10.1016/J.Ajhg.2020.02.016 |
0.603 |
|
2019 |
Wang J, Mao D, Fazal F, Kim SY, Yamamoto S, Bellen H, Liu Z. Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity. Current Protocols in Bioinformatics. 67: e85. PMID 31524990 DOI: 10.1002/Cpbi.85 |
0.566 |
|
2019 |
Şentürk M, Mao D, Bellen HJ. Loss of proteins associated with amyotrophic lateral sclerosis affect lysosomal acidification via different routes. Autophagy. 1-3. PMID 31032688 DOI: 10.1080/15548627.2019.1609863 |
0.54 |
|
2019 |
Şentürk M, Lin G, Zuo Z, Mao D, Watson E, Mikos AG, Bellen HJ. Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification. Nature Cell Biology. PMID 30804504 DOI: 10.1038/S41556-019-0281-X |
0.54 |
|
2019 |
Mao D, Lin G, Tepe B, Zuo Z, Tan KL, Senturk M, Zhang S, Arenkiel BR, Sardiello M, Bellen HJ. VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway. Autophagy. PMID 30741620 DOI: 10.1080/15548627.2019.1580103 |
0.607 |
|
2018 |
Lin G, Lee PT, Chen K, Mao D, Tan KL, Zuo Z, Lin WW, Wang L, Bellen HJ. Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to α-Synuclein Gain. Cell Metabolism. PMID 29909971 DOI: 10.1016/J.Cmet.2018.05.019 |
0.608 |
|
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