| Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A S Züchner, IV Mersiyanova, M Muglia, N Bissar-Tadmouri, J Rochelle, ... Nature genetics 36 (5), 449-451, 2004 | 1886 | 2004 |
| The Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta … LF Onuchic, L Furu, Y Nagasawa, X Hou, T Eggermann, Z Ren, ... The American Journal of Human Genetics 70 (5), 1305-1317, 2002 | 593 | 2002 |
| Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia C Bergmann, M Fliegauf, NO Brüchle, V Frank, H Olbrich, J Kirschner, ... The American Journal of Human Genetics 82 (4), 959-970, 2008 | 394 | 2008 |
| Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) C Bergmann, J Senderek, E Windelen, F Küpper, I Middeldorf, ... Kidney International 67 (3), 829-848, 2005 | 364 | 2005 |
| Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15 J Senderek, C Bergmann, S Weber, UP Ketelsen, H Schorle, ... Human molecular genetics 12 (3), 349-356, 2003 | 319 | 2003 |
| Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C M Auer-Grumbach, A Olschewski, L Papić, H Kremer, ME McEntagart, ... Nature genetics 42 (2), 160-164, 2010 | 316 | 2010 |
| Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ... Nature genetics 37 (12), 1312-1314, 2005 | 298 | 2005 |
| Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration J Wan, M Yourshaw, H Mamsa, S Rudnik-Schöneborn, MP Menezes, ... Nature genetics 44 (6), 704-708, 2012 | 257 | 2012 |
| Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy I Kurth, T Pamminger, JC Hennings, D Soehendra, AK Huebner, ... Nature genetics 41 (11), 1179-1181, 2009 | 254 | 2009 |
| Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy J Senderek, C Bergmann, C Stendel, J Kirfel, N Verpoorten, P De Jonghe, ... The American Journal of Human Genetics 73 (5), 1106-1119, 2003 | 249 | 2003 |
| Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome V Frank, AI den Hollander, NO Brüchle, MN Zonneveld, G Nürnberg, ... Human mutation 29 (1), 45-52, 2008 | 242 | 2008 |
| Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1) C Bergmann, J Senderek, B Sedlacek, I Pegiazoglou, P Puglia, ... Journal of the American Society of Nephrology 14 (1), 76-89, 2003 | 240 | 2003 |
| Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3 J Senderek, SM Garvey, M Krieger, V Guergueltcheva, A Urtizberea, ... The American Journal of Human Genetics 84 (4), 511-518, 2009 | 213 | 2009 |
| PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) C Bergmann, J Senderek, F Küpper, F Schneider, C Dornia, E Windelen, ... Human mutation 23 (5), 453-463, 2004 | 199 | 2004 |
| 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 | 188 | 2015 |
| Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum M Synofzik, AS Soehn, J Gburek-Augustat, J Schicks, KN Karle, R Schüle, ... Orphanet journal of rare diseases 8 (1), 41, 2013 | 188 | 2013 |
| Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect J Senderek, JS Müller, M Dusl, TM Strom, V Guergueltcheva, I Diepolder, ... The American Journal of Human Genetics 88 (2), 162-172, 2011 | 186 | 2011 |
| Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth … J Senderek, C Bergmann, VT Ramaekers, E Nelis, GÈ Bernert, ... Brain 126 (3), 642-649, 2003 | 173 | 2003 |
| Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4 C Stendel, A Roos, T Deconinck, J Pereira, F Castagner, A Niemann, ... The American Journal of Human Genetics 81 (1), 158-164, 2007 | 164 | 2007 |
| Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia C Bergmann, K Zerres, J Senderek, S Rudnik‐Schöneborn, T Eggermann, ... Brain 126 (7), 1537-1544, 2003 | 159 | 2003 |
J. Michael SchröderUniversity Hospital, RWTH Aachen, GermanyVerified email at netcologne.de
