| Malignant melanoma S3‐guideline “diagnosis, therapy and follow‐up of melanoma” A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ... JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11 (s6), 1-116, 2013 | 310 | 2013 |
| 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 | 249 | 2013 |
| TNF-α differentially modulates ion channels of nociceptive neurons JC Czeschik, T Hagenacker, M Schäfers, D Büsselberg Neuroscience letters 434 (3), 293-298, 2008 | 196 | 2008 |
| De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ... Human genetics 134 (1), 97-109, 2015 | 131 | 2015 |
| Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases D Smedley, S Köhler, JC Czeschik, J Amberger, C Bocchini, A Hamosh, ... Bioinformatics 30 (22), 3215-3222, 2014 | 103 | 2014 |
| Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25. 3 syndrome A Kuechler, AM Zink, T Wieland, HJ Lüdecke, K Cremer, L Salviati, ... European Journal of Human Genetics 23 (6), 753-760, 2015 | 100 | 2015 |
| Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome JC Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, ... Human genetics 132 (8), 885-898, 2013 | 87 | 2013 |
| S3‐Guideline “Diagnosis, therapy and follow‐up of melanoma”–short version A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ... JDDG: Journal der Deutschen Dermatologischen Gesellschaft 11 (6), 563-602, 2013 | 76 | 2013 |
| Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes NC Bramswig, HJ Lüdecke, Y Alanay, B Albrecht, A Barthelmie, ... Human genetics 134 (6), 553-568, 2015 | 73 | 2015 |
| German Dermatological Society; Dermatologic Cooperative Oncology Group. Malignant melanoma S3-guideline ‘diagnosis, therapy and follow-up of melanoma’ A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ... J Dtsch Dermatol Ges 11 (Suppl 6), 1-116, 2013 | 68* | 2013 |
| Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome D Wieczorek, WG Newman, T Wieland, T Berulava, M Kaffe, ... The American Journal of Human Genetics 95 (6), 698-707, 2014 | 67 | 2014 |
| Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ... Orphanet journal of rare diseases 8 (1), 1-12, 2013 | 57 | 2013 |
| Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies-expanding the phenotypes associated with EFTUD2 mutations C Voigt, A Mégarbané, K Neveling, JC Czeschik, B Albrecht, B Callewaert, ... Orphanet journal of rare diseases 8 (1), 1-12, 2013 | 57 | 2013 |
| Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition A Kuechler, JC Czeschik, E Graf, U Grasshoff, U Hüffmeier, T Busa, ... European Journal of Human Genetics 25 (2), 183-191, 2017 | 55 | 2017 |
| Sensitization of voltage activated calcium channel currents for capsaicin in nociceptive neurons by tumor-necrosis-factor-α T Hagenacker, JC Czeschik, M Schäfers, D Büsselberg Brain research bulletin 81 (1), 157-163, 2010 | 50 | 2010 |
| Novel microdeletions on chromosome 14q32. 2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome IM van der Werf, K Buiting, C Czeschik, E Reyniers, G Vandeweyer, ... European Journal of Human Genetics 24 (12), 1724-1729, 2016 | 38 | 2016 |
| Malignes melanom S3-leitlinie" Diagnostik, therapie und nachsorge des melanoms" A Pflugfelder, C Kochs, A Blum, M Capellaro, C Czeschik, T Dettenborn, ... JDDG-Journal of the German Society of Dermatology 11 (SUPPL. 6), 1-126, 2013 | 38 | 2013 |
| ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes NC Bramswig, CW Ockeloen, JC Czeschik, AJ van Essen, R Pfundt, ... Human genetics 134 (10), 1089-1097, 2015 | 33 | 2015 |
| X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity JC Czeschik, P Bauer, K Buiting, C Dufke, E Guillén-Navarro, DS Johnson, ... Orphanet journal of rare diseases 8 (1), 1-14, 2013 | 33 | 2013 |
| Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9 JC Czeschik, C Voigt, TO Goecke, HJ Lüdecke, N Wagner, A Kuechler, ... American Journal of Medical Genetics Part A 161 (2), 295-300, 2013 | 31 | 2013 |
Tim Hagenacker, MDDepartment of Neurology, University Hospital Essen, University of Duisburg-Essen, GermanyBestätigte E-Mail-Adresse bei uk-essen.de
