| Monogenic variants in dystonia: an exome-wide sequencing study M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ... The Lancet Neurology 19 (11), 908-918, 2020 | 156 | 2020 |
| Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy SL Stenton, NL Sheremet, CB Catarino, NA Andreeva, Z Assouline, ... The Journal of clinical investigation 131 (6), 2021 | 109 | 2021 |
| GestaltMatcher facilitates rare disease matching using facial phenotype descriptors TC Hsieh, A Bar-Haim, S Moosa, N Ehmke, KW Gripp, JT Pantel, ... Nature genetics 54 (3), 349-357, 2022 | 98 | 2022 |
| Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38, 2022 | 97 | 2022 |
| Opposite microglial activation stages upon loss of PGRN or TREM 2 result in reduced cerebral glucose metabolism JK Götzl, M Brendel, G Werner, S Parhizkar, L Sebastian Monasor, ... EMBO molecular medicine 11 (6), e9711, 2019 | 96 | 2019 |
| Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities D Steel, M Zech, C Zhao, KES Barwick, D Burke, D Demailly, KR Kumar, ... Annals of neurology 88 (5), 867-877, 2020 | 80 | 2020 |
| De novo variants in neurodevelopmental disorders—experiences from a tertiary care center T Brunet, R Jech, M Brugger, R Kovacs, B Alhaddad, G Leszinski, ... Clinical Genetics 100 (1), 14-28, 2021 | 73 | 2021 |
| Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease M Wagner, R Berutti, B Lorenz‐Depiereux, E Graf, G Eckstein, JA Mayr, ... Journal of inherited metabolic disease 42 (5), 909-917, 2019 | 70 | 2019 |
| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 60 | 2020 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 52 | 2020 |
| Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency S Vavassori, J Chou, LE Faletti, V Haunerdinger, L Opitz, P Joset, ... Journal of Allergy and Clinical Immunology 148 (2), 381-393, 2021 | 50 | 2021 |
| Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases J Tan, M Wagner, SL Stenton, TM Strom, SB Wortmann, H Prokisch, ... EBioMedicine 54, 2020 | 49* | 2020 |
| Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing M Zech, R Jech, M Wagner, T Mantel, S Boesch, M Nocker, A Jochim, ... Neurogenetics 18, 195-205, 2017 | 48 | 2017 |
| Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype … M Krenn, E Salzer, I Simonitsch-Klupp, J Rath, M Wagner, TB Haack, ... Journal of neurology 265, 394-401, 2018 | 46 | 2018 |
| De novo mutations affecting the catalytic Cα subunit of PP2A, PPP2CA, cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders S Reynhout, S Jansen, D Haesen, S van Belle, SA de Munnik, ... The American Journal of Human Genetics 104 (1), 139-156, 2019 | 45 | 2019 |
| Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia M Wagner, DPS Osborn, I Gehweiler, M Nagel, U Ulmer, S Bakhtiari, ... Nature communications 10 (1), 4790, 2019 | 43 | 2019 |
| Bi-allelic mutations in Phe-tRNA synthetase associated with a multi-system pulmonary disease support non-translational function Z Xu, WS Lo, DB Beck, LA Schuch, M Oláhová, R Kopajtich, YE Chong, ... The American Journal of Human Genetics 103 (1), 100-114, 2018 | 42 | 2018 |
| Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis M Gusic, G Schottmann, RG Feichtinger, C Du, C Scholz, M Wagner, ... The American Journal of Human Genetics 106 (1), 102-111, 2020 | 41 | 2020 |
| De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism IJ Diets, R van der Donk, K Baltrunaite, E Waanders, MRF Reijnders, ... The American Journal of Human Genetics 104 (4), 758-766, 2019 | 40 | 2019 |
| Exome sequencing and identification of phenocopies in patients with clinically presumed hereditary nephropathies KM Riedhammer, MC Braunisch, R Günthner, M Wagner, C Hemmer, ... American journal of kidney diseases 76 (4), 460-470, 2020 | 38 | 2020 |
Thomas MeitingerProf emeritus, Technische Universität MünchenVerified email at mri.tum.de
