| The general amino acid control pathway regulates mTOR and autophagy during serum/glutamine starvation R Chen, Y Zou, D Mao, D Sun, G Gao, J Shi, X Liu, C Zhu, M Yang, W Ye, ... Journal of Cell Biology 206 (2), 173-182, 2014 | 216 | 2014 |
| Phospholipase PLA2G6, a parkinsonism-associated gene, affects Vps26 and Vps35, retromer function, and ceramide levels, similar to α-synuclein gain G Lin, PT Lee, K Chen, D Mao, KL Tan, Z Zuo, WW Lin, L Wang, HJ Bellen Cell metabolism 28 (4), 605-618. e6, 2018 | 154 | 2018 |
| Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification M Şentürk, G Lin, Z Zuo, D Mao, E Watson, AG Mikos, HJ Bellen Nature cell biology 21 (3), 384-396, 2019 | 118 | 2019 |
| VAMP associated proteins are required for autophagic and lysosomal degradation by promoting a PtdIns4P-mediated endosomal pathway D Mao, G Lin, B Tepe, Z Zuo, KL Tan, M Senturk, S Zhang, BR Arenkiel, ... Autophagy, 2019 | 56 | 2019 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 49 | 2020 |
| Chapter Four-Amyotrophic Lateral Sclerosis Pathogenesis Converges on Defects in Protein Homeostasis Associated with TDP-43 Mislocalization and Proteasome-Mediated Degradation … G Lin, D Mao, HJ Bellen Current Topics in Developmental Biology 121, 111-171, 2017 | 30* | 2017 |
| Loss of proteins associated with amyotrophic lateral sclerosis affects lysosomal acidification via different routes M Şentürk, D Mao, HJ Bellen Autophagy 15 (8), 1467-1469, 2019 | 18 | 2019 |
| Using MARRVEL v1. 2 for bioinformatics analysis of human genes and variant pathogenicity J Wang, D Mao, F Fazal, SY Kim, S Yamamoto, H Bellen, Z Liu Current protocols in bioinformatics 67 (1), e85, 2019 | 12 | 2019 |
| Mitochondria-localized glutamic acid-rich protein (MGARP) gene transcription is regulated by Sp1 D Jin, R Li, D Mao, N Luo, Y Wang, S Chen, S Zhang Plos one 7 (11), e50053, 2012 | 7 | 2012 |
| AI-MARRVEL—A Knowledge-Driven AI System for Diagnosing Mendelian Disorders D Mao, C Liu, L Wang, R AI-Ouran, C Deisseroth, S Pasupuleti, SY Kim, ... NEJM AI 1 (5), AIoa2300009, 2024 | 6 | 2024 |
| Improving access to exome sequencing in a medically underserved population through the Texome Project B Vuocolo, RJ German, SR Lalani, CN Murali, CA Bacino, S Baskin, ... Genetics in Medicine 26 (6), 101102, 2024 | | 2024 |
| De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features X Pan, AM Tao, S Lu, M Ma, SB Hannan, R Slaugh, SD Williams, ... The American Journal of Human Genetics 111 (4), 742-760, 2024 | | 2024 |
| P495: Improving access to exome sequencing in medically underserved populations through the Texome Project: A summary of the first 74 cases B Vuocolo, R German, C Bacino, C Murali, S Lalani, S Baskin, E Roeder, ... Genetics in Medicine Open 2, 2024 | | 2024 |
| Enhancing Molecular Diagnostics of Mendelian Disorders with AI-MARRVEL: A Knowledge-Driven Artificial Intelligence Approach D Mao, C Liu, L Wang, R AI-Ouran, C Deisseroth, S Pasupuleti, SY Kim, ... | | 2023 |
| DE NOVO EIF2AK1 AND EIF2AK2 VARIANTS ARE ASSOCIATED WITH DEVELOPMENTAL DELAY, MOVEMENT DISORDERS, CEREBELLAR ATAXIA D Mao, AE Beck, CM Reuter, MRC Ruzhnikov, K Mackenzie, MT Wheeler, ... AMERICAN JOURNAL OF MEDICAL GENETICS PART A 182 (4), 940-941, 2020 | | 2020 |
| De Novo EIF2AK1 and EIF2AK2 Variants are Associated with Developmental Delay, Movement Disorders, Cerebellar Ataxia, Leukoencephalopathy, and Neurologic Decompensation HT Chao, D Mao, C Reuter, M Ruzhnikov, A Beck, E Farrow, L Emrick, ... ANNALS OF NEUROLOGY 86, S167-S167, 2019 | | 2019 |
| VAMP Associated Proteins are Required for Autophagic and Lysosomal Degradation D Mao Baylor College of Medicine. Program in Developmental Biology, 2018 | | 2018 |
