| Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2039 | 2013 |
| The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1237 | 2016 |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study A Rauch, D Wieczorek, E Graf, T Wieland, S Endele, T Schwarzmayr, ... The Lancet 380 (9854), 1674-1682, 2012 | 1215 | 2012 |
| Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia A Freischmidt, T Wieland, B Richter, W Ruf, V Schaeffer, K Müller, ... Nature neuroscience 18 (5), 631-636, 2015 | 819 | 2015 |
| Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension F Beuschlein, S Boulkroun, A Osswald, T Wieland, HN Nielsen, ... Nature genetics 45 (4), 440-444, 2013 | 565 | 2013 |
| Mutations in the deubiquitinase gene USP8 cause Cushing's disease M Reincke, S Sbiera, A Hayakawa, M Theodoropoulou, A Osswald, ... Nature genetics 47 (1), 31-38, 2015 | 536 | 2015 |
| Calmodulin mutations associated with recurrent cardiac arrest in infants L Crotti, CN Johnson, E Graf, GM De Ferrari, BF Cuneo, M Ovadia, ... Circulation 127 (9), 1009-1017, 2013 | 413 | 2013 |
| Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ... New England Journal of Medicine 370 (11), 1019-1028, 2014 | 410 | 2014 |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA TB Haack, P Hogarth, MC Kruer, A Gregory, T Wieland, T Schwarzmayr, ... The American journal of human genetics 91 (6), 1144-1149, 2012 | 350 | 2012 |
| Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 341 | 2015 |
| Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy J Winkelmann, L Lin, B Schormair, BR Kornum, J Faraco, G Plazzi, ... Human molecular genetics 21 (10), 2205-2210, 2012 | 263 | 2012 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease C Kornblum, TJ Nicholls, TB Haack, S Schöler, V Peeva, K Danhauser, ... Nature genetics 45 (2), 214-219, 2013 | 259 | 2013 |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012 | 228 | 2012 |
| Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing TB Haack, B Haberberger, EM Frisch, T Wieland, A Iuso, M Gorza, ... Journal of medical genetics 49 (4), 277-283, 2012 | 219 | 2012 |
| Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 173 | 2015 |
| Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy X Gai, D Ghezzi, MA Johnson, CA Biagosch, HE Shamseldin, TB Haack, ... The American Journal of Human Genetics 93 (3), 482-495, 2013 | 157 | 2013 |
| ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy TB Haack, R Kopajtich, P Freisinger, T Wieland, J Rorbach, TJ Nicholls, ... The American Journal of Human Genetics 93 (2), 211-223, 2013 | 153 | 2013 |
| NEK1 mutations in familial amyotrophic lateral sclerosis D Brenner, K Müller, T Wieland, P Weydt, S Böhm, D Lule, A Hübers, ... Brain 139 (5), e28-e28, 2016 | 139 | 2016 |
| Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy R Kopajtich, TJ Nicholls, J Rorbach, MD Metodiev, P Freisinger, H Mandel, ... The American Journal of Human Genetics 95 (6), 708-720, 2014 | 137 | 2014 |
| Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, ... The American Journal of Human Genetics 97 (1), 163-169, 2015 | 126 | 2015 |
Prokisch HInstitute of Human Genetics TU-MunichVerified email at helmholtz-munich.de
