| 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 |
| Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development B Cisse, ML Caton, M Lehner, T Maeda, S Scheu, R Locksley, ... Cell 135 (1), 37-48, 2008 | 736 | 2008 |
| 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 |
| Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A Van Haeringen, ... Nature genetics 43 (1), 20-22, 2011 | 390 | 2011 |
| CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila C Zweier, EK de Jong, M Zweier, A Orrico, LB Ousager, AL Collins, ... The American Journal of Human Genetics 85 (5), 655-666, 2009 | 371 | 2009 |
| Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ... The American Journal of Human Genetics 80 (5), 994-1001, 2007 | 347 | 2007 |
| Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules K Kochinke, C Zweier, B Nijhof, M Fenckova, P Cizek, F Honti, ... The American Journal of Human Genetics 98 (1), 149-164, 2016 | 315 | 2016 |
| Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability J Hoyer, AB Ekici, S Endele, B Popp, C Zweier, A Wiesener, E Wohlleber, ... The American Journal of Human Genetics 90 (3), 565-572, 2012 | 285 | 2012 |
| CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration AE Schaffer, VRC Eggens, AO Caglayan, MS Reuter, E Scott, NG Coufal, ... Cell 157 (3), 651-663, 2014 | 278 | 2014 |
| A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling D Wieczorek, N Bögershausen, F Beleggia, S Steiner-Haldenstätt, E Pohl, ... Human molecular genetics 22 (25), 5121-5135, 2013 | 240 | 2013 |
| Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11. 2 deletions C Zweier, H Sticht, I Aydin-Yaylagül, CE Campbell, A Rauch The American Journal of Human Genetics 80 (3), 510-517, 2007 | 236 | 2007 |
| 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 |
| Transcriptional repressor ZEB2 promotes terminal differentiation of CD8+ effector and memory T cell populations during infection KD Omilusik, JA Best, B Yu, S Goossens, A Weidemann, JV Nguyen, ... Journal of Experimental Medicine 212 (12), 2027-2039, 2015 | 200 | 2015 |
| Mutations in MEF2C from the 5q14. 3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression M Zweier, A Gregor, C Zweier, H Engels, H Sticht, E Wohlleber, ... Human mutation 31 (6), 722-733, 2010 | 179 | 2010 |
| Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of Fallot R Rauch, M Hofbeck, C Zweier, A Koch, S Zink, U Trautmann, J Hoyer, ... Journal of medical genetics 47 (5), 321-331, 2010 | 174 | 2010 |
| De novo mutations in the genome organizer CTCF cause intellectual disability A Gregor, M Oti, EN Kouwenhoven, J Hoyer, H Sticht, AB Ekici, ... The American Journal of Human Genetics 93 (1), 124-131, 2013 | 170 | 2013 |
| Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy C Mignot, C Von Stülpnagel, C Nava, D Ville, D Sanlaville, G Lesca, ... Journal of medical genetics 53 (8), 511-522, 2016 | 167 | 2016 |
| Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants JJ Johnston, JJ van der Smagt, JA Rosenfeld, AT Pagnamenta, A Alswaid, ... Genetics in Medicine 20 (10), 1175-1185, 2018 | 163 | 2018 |
| 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 |
