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The genetic architecture of type 2 diabetes C Fuchsberger, J Flannick, TM Teslovich, A Mahajan, V Agarwala, ... Nature 536 (7614), 41-47, 2016 | 1243 | 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 | 1222 | 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 | 825 | 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 | 566 | 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 | 543 | 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 | 412 | 2014 |
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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 | 266 | 2012 |
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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 |
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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 | 179 | 2015 |
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