| MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity T Müller, MW Hess, N Schiefermeier, K Pfaller, HL Ebner, P Heinz-Erian, ... Nature genetics 40 (10), 1163-1165, 2008 | 376 | 2008 |
| Faecal calprotectin indicates intestinal inflammation in COVID-19 M Effenberger, F Grabherr, L Mayr, J Schwaerzler, M Nairz, M Seifert, ... Gut 69 (8), 1543-1544, 2020 | 339 | 2020 |
| Variants in CPA1 are strongly associated with early onset chronic pancreatitis H Witt, S Beer, J Rosendahl, JM Chen, GR Chandak, A Masamune, ... Nature genetics 45 (10), 1216-1220, 2013 | 328 | 2013 |
| TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone L Huang, K Szymanska, VL Jensen, AR Janecke, AM Innes, EE Davis, ... The American Journal of Human Genetics 89 (6), 713-730, 2011 | 229 | 2011 |
| Endemic Tyrolean infantile cirrhosis: an ecogenetic disorder T Müller, H Feichtinger, H Berger, W Müller The Lancet 347 (9005), 877-880, 1996 | 223 | 1996 |
| Loss of syntaxin 3 causes variant microvillus inclusion disease CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ... Gastroenterology 147 (1), 65-68. e10, 2014 | 181 | 2014 |
| Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ... Nature genetics 44 (10), 1080-1083, 2012 | 152 | 2012 |
| Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome M Dündar, T Müller, QI Zhang, J Pan, B Steinmann, J Vodopiutz, R Gruber, ... The American Journal of Human Genetics 85 (6), 873-882, 2009 | 151 | 2009 |
| Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea AR Janecke, P Heinz-Erian, J Yin, BS Petersen, A Franke, S Lechner, ... Human molecular genetics 24 (23), 6614-6623, 2015 | 143 | 2015 |
| Loss‐of‐function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo‐2 RNAi cell model FM Ruemmele, T Müller, N Schiefermeier, HL Ebner, S Lechner, K Pfaller, ... Human mutation 31 (5), 544-551, 2010 | 141 | 2010 |
| Idiopathic copper toxicosis T Müller, W Müller, H Feichtinger The American journal of clinical nutrition 67 (5), 1082S-1086S, 1998 | 138 | 1998 |
| ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation EJR Jansen, S Timal, M Ryan, A Ashikov, M Van Scherpenzeel, ... Nature communications 7 (1), 11600, 2016 | 135 | 2016 |
| Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea P Heinz-Erian, T Müller, B Krabichler, M Schranz, C Becker, ... The American Journal of Human Genetics 84 (2), 188-196, 2009 | 128 | 2009 |
| Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis J Rosendahl, H Kirsten, E Hegyi, P Kovacs, FU Weiss, H Laumen, ... Gut 67 (10), 1855-1863, 2018 | 119 | 2018 |
| Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations–phenotypic spectrum and frequencies of GJB2 mutations in Austria AR Janecke, A Hirst-Stadlmann, B Günther, B Utermann, T Müller, ... Human genetics 111, 145-153, 2002 | 109 | 2002 |
| Cargo-selective apical exocytosis in epithelial cells is conducted by Myo5B, Slp4a, Vamp7, and Syntaxin 3 GF Vogel, KMC Klee, AR Janecke, T Müller, MW Hess, LA Huber Journal of Cell Biology 211 (3), 587-604, 2015 | 108 | 2015 |
| Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes T Müller, C Wijmenga, AD Phillips, A Janecke, RHJ Houwen, H Fischer, ... Gastroenterology 119 (6), 1506-1513, 2000 | 103 | 2000 |
| Intestinal failure and aberrant lipid metabolism in patients with DGAT1 deficiency JM van Rijn, RC Ardy, Z Kuloğlu, B Härter, DY van Haaften-Visser, ... Gastroenterology 155 (1), 130-143. e15, 2018 | 102 | 2018 |
| Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers–Danlos syndrome T Müller, S Mizumoto, I Suresh, Y Komatsu, J Vodopiutz, M Dundar, ... Human molecular genetics 22 (18), 3761-3772, 2013 | 98 | 2013 |
| Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form J Salomon, O Goulet, D Canioni, N Brousse, J Lemale, P Tounian, ... Human genetics 133, 299-310, 2014 | 93 | 2014 |
Andreas JaneckeMedical University of Innsbruck在 i-med.ac.at 的电子邮件经过验证
