| Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early‐Onset Parkinsonism M Quadri, M Fang, M Picillo, S Olgiati, GJ Breedveld, J Graafland, B Wu, ... Human mutation 34 (9), 1208-1215, 2013 | 330 | 2013 |
| Spectrum of Phenotypes Associated with Mutations in LRBA OK Alkhairy, H Abolhassani, N Rezaei, M Fang, KK Andersen, ... Journal of clinical immunology 36, 33-45, 2016 | 211 | 2016 |
| DNAJC6 Mutations Associated With Early‐Onset Parkinson's Disease S Olgiati, M Quadri, M Fang, JPMA Rood, JA Saute, HF Chien, ... Annals of neurology 79 (2), 244-256, 2016 | 200* | 2016 |
| Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency H Abolhassani, ESJ Edwards, A Ikinciogullari, H Jing, S Borte, M Buggert, ... Journal of Experimental Medicine 214 (1), 91-106, 2017 | 156 | 2017 |
| Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency OK Alkhairy, R Perez-Becker, GJ Driessen, H Abolhassani, ... Journal of Allergy and Clinical Immunology 136 (3), 703-712. e10, 2015 | 145 | 2015 |
| RNASEH1 mutations impair mtDNA replication and cause adult-onset mitochondrial encephalomyopathy A Reyes, L Melchionda, A Nasca, F Carrara, E Lamantea, A Zanolini, ... The American Journal of Human Genetics 97 (1), 186-193, 2015 | 120 | 2015 |
| Mutations in ABCB6 cause dyschromatosis universalis hereditaria C Zhang, D Li, J Zhang, X Chen, M Huang, S Archacki, Y Tian, W Ren, ... Journal of Investigative Dermatology 133 (9), 2221-2228, 2013 | 113 | 2013 |
| Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency H Abolhassani, A Aghamohammadi, M Fang, N Rezaei, C Jiang, X Liu, ... Genetics in Medicine 21 (1), 243-251, 2019 | 106 | 2019 |
| Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6 A Masotti, P Uva, L Davis-Keppen, L Basel-Vanagaite, L Cohen, ... The American Journal of Human Genetics 96 (2), 295-300, 2015 | 105 | 2015 |
| T cell receptor β repertoires as novel diagnostic markers for systemic lupus erythematosus and rheumatoid arthritis X Liu, W Zhang, M Zhao, L Fu, L Liu, J Wu, S Luo, L Wang, Z Wang, L Lin, ... Annals of the rheumatic diseases 78 (8), 1070-1078, 2019 | 103 | 2019 |
| Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy C Jespersgaard, M Fang, M Bertelsen, X Dang, H Jensen, Y Chen, ... Scientific reports 9 (1), 1219, 2019 | 99 | 2019 |
| POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking RFR Schindler, C Scotton, J Zhang, C Passarelli, B Ortiz-Bonnin, ... The Journal of clinical investigation 126 (1), 239-253, 2016 | 96 | 2016 |
| Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling E Gregianin, G Pallafacchina, S Zanin, V Crippa, P Rusmini, A Poletti, ... Human molecular genetics 25 (17), 3741-3753, 2016 | 95 | 2016 |
| Next generation sequencing data analysis in primary immunodeficiency disorders–future directions M Fang, H Abolhassani, CK Lim, J Zhang, L Hammarström Journal of clinical immunology 36, 68-75, 2016 | 81 | 2016 |
| LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance C Dallabona, TEM Abbink, R Carrozzo, A Torraco, A Legati, ... Brain 139 (3), 782-794, 2016 | 67 | 2016 |
| A novel homozygous mutation in SUCLA2 gene identified by exome sequencing C Lamperti, M Fang, F Invernizzi, X Liu, H Wang, Q Zhang, F Carrara, ... Molecular genetics and metabolism 107 (3), 403-408, 2012 | 54 | 2012 |
| Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3 G Zanni, C Scotton, C Passarelli, M Fang, S Barresi, B Dallapiccola, B Wu, ... Neurogenetics 14, 247-250, 2013 | 47 | 2013 |
| Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations XP Qi, ZF Du, JM Ma, XL Chen, Q Zhang, J Fei, XM Wei, D Chen, HP Ke, ... Gene 516 (1), 93-100, 2013 | 46 | 2013 |
| International Parkinsonism Genetics Network M Quadri, M Fang, M Picillo, S Olgiati, GJ Breedveld, J Graafland, B Wu, ... Oostra, BA, Barone, P., Wang, J., Bonifati 2013, 1208-1215, 2018 | 40 | 2018 |
| ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy L Caporali, S Magri, A Legati, V Del Dotto, F Tagliavini, F Balistreri, ... Annals of neurology 88 (1), 18-32, 2020 | 34 | 2020 |
Jianguo ZhangBGI-shenzhenVerified email at genomics.cn
