| 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 |
| Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation A Rauch, J Hoyer, S Guth, C Zweier, C Kraus, C Becker, M Zenker, ... American journal of medical genetics Part A 140 (19), 2063-2074, 2006 | 631 | 2006 |
| Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ... Science 319 (5864), 816-819, 2008 | 456 | 2008 |
| Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) M Zenker, J Mayerle, MM Lerch, A Tagariello, K Zerres, PR Durie, M Beier, ... Nature genetics 37 (12), 1345-1350, 2005 | 294 | 2005 |
| An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ... Nature cell biology 17 (8), 1074-1087, 2015 | 245 | 2015 |
| Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders MS Reuter, H Tawamie, R Buchert, OH Gebril, T Froukh, C Thiel, S Uebe, ... JAMA psychiatry 74 (3), 293-299, 2017 | 208 | 2017 |
| NEK1 mutations cause short-rib polydactyly syndrome type majewski C Thiel, K Kessler, A Giessl, A Dimmler, SA Shalev, S von der Haar, ... The American Journal of Human Genetics 88 (1), 106-114, 2011 | 195 | 2011 |
| Molecular karyotyping using an SNP array for genomewide genotyping A Rauch, F Rüschendorf, J Huang, U Trautmann, C Becker, C Thiel, ... Journal of Medical Genetics 41 (12), 916-922, 2004 | 155 | 2004 |
| Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator CT Thiel, D Horn, B Zabel, AB Ekici, K Salinas, E Gebhart, F Rüschendorf, ... The American Journal of Human Genetics 77 (5), 795-806, 2005 | 153 | 2005 |
| Systematic assessment of atypical deletions reveals genotype–phenotype correlation in 22q11. 2 A Rauch, S Zink, C Zweier, CT Thiel, A Koch, R Rauch, J Lascorz, ... Journal of Medical Genetics 42 (11), 871-876, 2005 | 148 | 2005 |
| Clinical and mutational spectrum of Mowat–Wilson syndrome C Zweier, CT Thiel, A Dufke, YJ Crow, P Meinecke, M Suri, S Ala-Mello, ... European journal of medical genetics 48 (2), 97-111, 2005 | 148 | 2005 |
| Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature NN Hauer, B Popp, E Schoeller, S Schuhmann, KE Heath, A Hisado-Oliva, ... Genetics in Medicine 20 (6), 630-638, 2018 | 139 | 2018 |
| 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 |
| Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice M Kraft, IC Cirstea, AK Voss, T Thomas, I Goehring, BN Sheikh, L Gordon, ... The Journal of clinical investigation 121 (9), 2011 | 125 | 2011 |
| Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia C Bergmann, J Senderek, D Anhuf, CT Thiel, AB Ekici, ... The American Journal of Human Genetics 79 (6), 1105-1109, 2006 | 120 | 2006 |
| Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia–anauxetic dysplasia spectrum CT Thiel, G Mortier, I Kaitila, A Reis, A Rauch The American Journal of Human Genetics 81 (3), 519-529, 2007 | 101 | 2007 |
| Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays J Hoyer, A Dreweke, C Becker, I Göhring, CT Thiel, MM Peippo, R Rauch, ... Journal of medical genetics 44 (10), 629-636, 2007 | 96 | 2007 |
| The clinical significance of small copy number variants in neurodevelopmental disorders R Asadollahi, B Oneda, P Joset, S Azzarello-Burri, D Bartholdi, K Steindl, ... Journal of Medical Genetics 51 (10), 677-688, 2014 | 93 | 2014 |
| Disturbed Wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum AB Ekici, D Hilfinger, M Jatzwauk, CT Thiel, D Wenzel, I Lorenz, ... Molecular syndromology 1 (3), 99-112, 2010 | 87 | 2010 |
| Rare copy number variants are a common cause of short stature D Zahnleiter, S Uebe, AB Ekici, J Hoyer, A Wiesener, D Wieczorek, ... PLoS genetics 9 (3), e1003365, 2013 | 86 | 2013 |
