| The human phenotype ontology in 2017 S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ... Nucleic acids research 45 (D1), D865-D876, 2017 | 644 | 2017 |
| Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 490 | 2007 |
| The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ... | 368 | 2017 |
| The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-β signaling pathways T Fukada, N Civic, T Furuichi, S Shimoda, K Mishima, H Higashiyama, ... PloS one 3 (11), e3642, 2008 | 342 | 2008 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 247 | 2013 |
| The human phenotype ontology: semantic unification of common and rare disease T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ... The American Journal of Human Genetics 97 (1), 111-124, 2015 | 232 | 2015 |
| Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2 R Ha‐Vinh, Y Alanay, RA Bank, AB Campos‐Xavier, A Zankl, ... American journal of medical genetics Part A 131 (2), 115-120, 2004 | 223 | 2004 |
| Growth charts for nose length, nasal protrusion, and philtrum length from birth to 97 years A Zankl, L Eberle, L Molinari, A Schinzel American journal of medical genetics 111 (4), 388-391, 2002 | 162 | 2002 |
| Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB A Zankl, EL Duncan, PJ Leo, GR Clark, EA Glazov, MC Addor, T Herlin, ... The American Journal of Human Genetics 90 (3), 494-501, 2012 | 137 | 2012 |
| Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy M Schmidts, J Vodopiutz, S Christou-Savina, CR Cortés, ... The American Journal of Human Genetics 93 (5), 932-944, 2013 | 136 | 2013 |
| Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60 AM McInerney-Leo, M Schmidts, CR Cortés, PJ Leo, B Gener, ... The American Journal of Human Genetics 93 (3), 515-523, 2013 | 134 | 2013 |
| Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an … GC Jackson, L Mittaz‐Crettol, JA Taylor, GR Mortier, J Spranger, B Zabel, ... Human mutation 33 (1), 144-157, 2012 | 124 | 2012 |
| Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ... Human mutation 31 (5), E1319-E1331, 2010 | 111 | 2010 |
| Optimal management of complications associated with achondroplasia PJ Ireland, V Pacey, A Zankl, P Edwards, LM Johnston, R Savarirayan The application of clinical genetics, 117-125, 2014 | 105 | 2014 |
| Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia EA Glazov, A Zankl, M Donskoi, TJ Kenna, GP Thomas, GR Clark, ... PLoS genetics 7 (3), e1002027, 2011 | 95 | 2011 |
| A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related … PA Terhal, RJAJ Nievelstein, EJJ Verver, V Topsakal, P van Dommelen, ... American journal of medical genetics Part A 167 (3), 461-475, 2015 | 89 | 2015 |
| The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene KP Hoornaert, C Dewinter, I Vereecke, FA Beemer, W Courtens, A Fryer, ... Journal of medical genetics 43 (5), 406-413, 2006 | 88 | 2006 |
| Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2 A Zankl, L Bonafe, V Calcaterra, M Di Rocco, A Superti‐Furga Clinical genetics 67 (3), 261-266, 2005 | 87 | 2005 |
| Automatic concept recognition using the human phenotype ontology reference and test suite corpora T Groza, S Köhler, S Doelken, N Collier, A Oellrich, D Smedley, FM Couto, ... Database 2015, bav005, 2015 | 84 | 2015 |
| Development in children with achondroplasia: a prospective clinical cohort study PJ Ireland, S Donaghey, J McGILL, A Zankl, RS Ware, V Pacey, J Ault, ... Developmental Medicine & Child Neurology 54 (6), 532-537, 2012 | 80 | 2012 |
Tudor GrozaEuropean Bioinformatics InstituteVerified email at ebi.ac.uk
