| Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis H Witt, W Luck, HC Hennies, M Claßen, A Kage, U Laß, O Landt, ... Nature genetics 25 (2), 213-216, 2000 | 1248 | 2000 |
| Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009 V Oji, G Tadini, M Akiyama, CB Bardon, C Bodemer, E Bourrat, ... Journal of the American Academy of Dermatology 63 (4), 607-641, 2010 | 906 | 2010 |
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674-681, 2006 | 732 | 2006 |
| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 672 | 2006 |
| Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11 U zur Stadt, S Schmidt, B Kasper, K Beutel, AS Diler, JI Henter, H Kabisch, ... Human molecular genetics 14 (6), 827-834, 2005 | 670 | 2005 |
| Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11 U Zur Stadt, J Rohr, W Seifert, F Koch, S Grieve, J Pagel, J Strauß, ... The American Journal of Human Genetics 85 (4), 482-492, 2009 | 479 | 2009 |
| Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III S Cichon, L Martin, HC Hennies, F Müller, K Van Driessche, ... The American Journal of Human Genetics 79 (6), 1098-1104, 2006 | 410 | 2006 |
| Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A UZ Stadt, K Beutel, S Kolberg, R Schneppenheim, H Kabisch, G Janka, ... Human mutation 27 (1), 62-68, 2006 | 354 | 2006 |
| Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK) A Reis, HC Hennies, L Langbein, M Digweed, D Mischke, M Drechsler, ... Nature genetics 6 (2), 174-179, 1994 | 344 | 1994 |
| Wnt signaling and Dupuytren's disease GH Dolmans, PM Werker, HC Hennies, D Furniss, EA Festen, L Franke, ... New England Journal of Medicine 365 (4), 307-317, 2011 | 324 | 2011 |
| Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia AM Hillmer, S Hanneken, S Ritzmann, T Becker, J Freudenberg, ... The American Journal of Human Genetics 77 (1), 140-148, 2005 | 294 | 2005 |
| Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease V Oji, KM Eckl, K Aufenvenne, M Nätebus, T Tarinski, K Ackermann, ... The American Journal of Human Genetics 87 (2), 274-281, 2010 | 258 | 2010 |
| A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution E Otto, J Hoefele, R Ruf, AM Mueller, KS Hiller, MTF Wolf, ... The American Journal of Human Genetics 71 (5), 1161-1167, 2002 | 248 | 2002 |
| A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function MS Hussain, SM Baig, S Neumann, G Nürnberg, M Farooq, I Ahmad, ... The American Journal of Human Genetics 90 (5), 871-878, 2012 | 223 | 2012 |
| In vitro Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells A Fatima, G Xu, K Shao, S Papadopoulos, M Lehmann, JJ Arnáiz-Cot, ... Cellular Physiology and Biochemistry 28 (4), 579-592, 2011 | 223 | 2011 |
| RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome DC Blaydon, SL Etheridge, JM Risk, HC Hennies, LJ Gay, R Carroll, ... The American Journal of Human Genetics 90 (2), 340-346, 2012 | 205 | 2012 |
| Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15 S Sasse-Klaassen, S Probst, B Gerull, E Oechslin, P Nürnberg, ... Circulation 109 (22), 2720-2723, 2004 | 198 | 2004 |
| Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity W Seifert, J Kühnisch, T Maritzen, D Horn, V Haucke, HC Hennies Journal of Biological Chemistry 286 (43), 37665-37675, 2011 | 191 | 2011 |
| Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome S Ammann, A Schulz, I Krägeloh-Mann, NMG Dieckmann, K Niethammer, ... Blood, The Journal of the American Society of Hematology 127 (8), 997-1006, 2016 | 179 | 2016 |
| Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length KM Eckl, R Tidhar, H Thiele, V Oji, I Hausser, S Brodesser, ML Preil, ... Journal of Investigative Dermatology 133 (9), 2202-2211, 2013 | 175 | 2013 |
