| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13466* | 2021 |
| Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 685 | 2020 |
| Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells D Paull, A Sevilla, H Zhou, AK Hahn, H Kim, C Napolitano, A Tsankov, ... Nature methods 12 (9), 885-892, 2015 | 238 | 2015 |
| Central core disease is due to RYR1 mutations in more than 90% of patients S Wu, MCA Ibarra, MCV Malicdan, K Murayama, Y Ichihara, H Kikuchi, ... Brain 129 (6), 1470-1480, 2006 | 227 | 2006 |
| Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model MCV Malicdan, S Noguchi, YK Hayashi, I Nonaka, I Nishino Nature medicine 15 (6), 690-695, 2009 | 214 | 2009 |
| 1, 25-(OH) 2D-24 hydroxylase (CYP24A1) deficiency as a cause of nephrolithiasis G Nesterova, MC Malicdan, K Yasuda, T Sakaki, T Vilboux, C Ciccone, ... Clinical journal of the American Society of Nephrology 8 (4), 649-657, 2013 | 178 | 2013 |
| Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle MC Malicdan, S Noguchi, I Nonaka, P Saftig, I Nishino Neuromuscular Disorders 18 (7), 521-529, 2008 | 177 | 2008 |
| MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ... The American Journal of Human Genetics 100 (6), 843-853, 2017 | 176 | 2017 |
| The undiagnosed diseases network: accelerating discovery about health and disease RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ... The American Journal of Human Genetics 100 (2), 185-192, 2017 | 159 | 2017 |
| Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ... The American Journal of Human Genetics 100 (2), 257-266, 2017 | 149 | 2017 |
| A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body … MCV Malicdan, S Noguchi, I Nonaka, YK Hayashi, I Nishino Human molecular genetics 16 (22), 2669-2682, 2007 | 147 | 2007 |
| A congenital neutrophil defect syndrome associated with mutations in VPS45 T Vilboux, A Lev, MCV Malicdan, AJ Simon, P Järvinen, T Racek, ... New England Journal of Medicine 369 (1), 54-65, 2013 | 143 | 2013 |
| Primary cilium-mediated retinal pigment epithelium maturation is disrupted in ciliopathy patient cells HL May-Simera, Q Wan, BS Jha, J Hartford, V Khristov, R Dejene, ... Cell reports 22 (1), 189-205, 2018 | 127 | 2018 |
| Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center T Vilboux, DA Doherty, IA Glass, MA Parisi, IG Phelps, AR Cullinane, ... Genetics in Medicine 19 (8), 875-882, 2017 | 121 | 2017 |
| Mutation Update for GNE Gene Variants Associated with GNE Myopathy FV Celeste, T Vilboux, C Ciccone, JK de Dios, MCV Malicdan, ... Human mutation 35 (8), 915-926, 2014 | 116 | 2014 |
| A syndromic neurodevelopmental disorder caused by de novo variants in EBF3 HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ... The American Journal of Human Genetics 100 (1), 128-137, 2017 | 114 | 2017 |
| Clinical and genetic analysis of lipid storage myopathies A Ohkuma, S Noguchi, H Sugie, MCV Malicdan, T Fukuda, K Shimazu, ... Muscle & Nerve: Official Journal of the American Association of …, 2009 | 98 | 2009 |
| IRF2BPL is associated with neurological phenotypes PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ... The American Journal of Human Genetics 103 (2), 245-260, 2018 | 90 | 2018 |
| Hermansky–Pudlak syndrome: mutation update M Huizing, MCV Malicdan, JA Wang, H Pri‐Chen, RA Hess, R Fischer, ... Human mutation 41 (3), 543-580, 2020 | 85 | 2020 |
| GNE myopathy: etiology, diagnosis, and therapeutic challenges N Carrillo, MC Malicdan, M Huizing Neurotherapeutics 15 (4), 900-914, 2018 | 85 | 2018 |
Ichizo NISHINODirector, Department of Neuromuscular Research, National Institute of Neuroscience, NCNPVerified email at ncnp.go.jp
