| Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 150 | 2016 |
| DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein–Taybi syndrome (RSTS) and in another patient with incomplete RSTS O Bartsch, S Schmidt, M Richter, S Morlot, E Seemanová, G Wiebe, ... Human genetics 117, 485-493, 2005 | 145 | 2005 |
| Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ... Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020 | 131 | 2020 |
| Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations B Vona, T Müller, I Nanda, C Neuner, MAH Hofrichter, J Schröder, ... Genetics in Medicine 16 (12), 945-953, 2014 | 112 | 2014 |
| Head and neck paragangliomas: report of 175 patients (1989–2010) K Papaspyrou, T Mewes, H Rossmann, C Fottner, B Schneider‐Raetzke, ... Head & neck 34 (5), 632-637, 2012 | 112 | 2012 |
| Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome N Zimmermann, AMBF Acosta, J Kohlhase, O Bartsch European journal of human genetics 15 (8), 837-842, 2007 | 110 | 2007 |
| Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short … O Bartsch, W Wuyts, W Van Hul, JT Hecht, P Meinecke, D Hogue, ... American journal of human genetics 58 (4), 734, 1996 | 100 | 1996 |
| FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy O Bartsch, A Wagner, GK Hinkel, P Krebs, M Stumm, B Schmalenberger, ... European Journal of Human Genetics 7 (7), 748-756, 1999 | 98 | 1999 |
| Redefining the MED13L syndrome A Adegbola, L Musante, B Callewaert, P Maciel, H Hu, B Isidor, ... European Journal of Human Genetics 23 (10), 1308-1317, 2015 | 90 | 2015 |
| Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies HG Kim, HT Kim, NT Leach, F Lan, R Ullmann, A Silahtaroglu, I Kurth, ... The American Journal of Human Genetics 91 (1), 56-72, 2012 | 88 | 2012 |
| Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6 S Rost, E Bach, C Neuner, I Nanda, S Dysek, RE Bittner, A Keller, ... European Journal of Human Genetics 22 (2), 208-215, 2014 | 85 | 2014 |
| Three patients with 9p deletions including DMRT1 and DMRT2: a girl with XY complement, bilateral ovotestes, and extreme growth retardation, and two XX females with normal … K Ounap, O Uibo, R Zordania, L Kiho, T Ilus, E Oiglane‐Shlik, O Bartsch American Journal of Medical Genetics Part A 130 (4), 415-423, 2004 | 84 | 2004 |
| Androstadienone odor thresholds in adolescents T Hummel, F Krone, JN Lundström, O Bartsch Hormones and behavior 47 (3), 306-310, 2005 | 80 | 2005 |
| Inheritance and variable expression in Rubinstein–Taybi syndrome O Bartsch, W Kress, O Kempf, S Lechno, T Haaf, U Zechner American journal of medical genetics Part A 152 (9), 2254-2261, 2010 | 79 | 2010 |
| Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome O Bartsch, J Labonté, B Albrecht, D Wieczorek, S Lechno, U Zechner, ... American Journal of Medical Genetics Part A 152 (1), 181-184, 2010 | 79 | 2010 |
| DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion O Bartsch, M Nemecková, E Kocárek, A Wagner, A Puchmajerová, ... American Journal of Medical Genetics Part A 117 (1), 1-5, 2003 | 77 | 2003 |
| Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes S Marchegiani, T Davis, F Tessadori, G Van Haaften, F Brancati, ... The American Journal of Human Genetics 97 (1), 99-110, 2015 | 76 | 2015 |
| DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor S Schuffenhauer, O Bartsch, M Stumm, T Buchholz, T Petropoulou, S Kraft, ... Human genetics 96, 562-571, 1995 | 71 | 1995 |
| Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis S Boppudi, N Bögershausen, HB Hove, EF Percin, D Aslan, R Dvorsky, ... Clinical genetics 90 (4), 334-342, 2016 | 70 | 2016 |
| Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, ... Journal of Medical Genetics 39 (7), 496-501, 2002 | 69 | 2002 |
