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| Nosology and classification of genetic skeletal disorders: 2015 revision L Bonafe, V Cormier‐Daire, C Hall, R Lachman, G Mortier, S Mundlos, ... American journal of medical genetics Part A 167 (12), 2869-2892, 2015 | 666 | 2015 |
| Nosology and classification of genetic skeletal disorders: 2019 revision GR Mortier, DH Cohn, V Cormier‐Daire, C Hall, D Krakow, S Mundlos, ... American journal of medical genetics Part A 179 (12), 2393-2419, 2019 | 573 | 2019 |
| Nosology and classification of genetic skeletal disorders: 2006 revision A Superti‐Furga, S Unger, ... American journal of medical genetics Part A 143 (1), 1-18, 2007 | 431 | 2007 |
| Bone dysplasias: an atlas of genetic disorders of skeletal development JW Spranger, A Superti-Furga, S Unger Oxford University Press, USA, 2018 | 384 | 2018 |
| 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 | 330 | 2008 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 243 | 2011 |
| Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity E Lausch, A Janecke, M Bros, S Trojandt, Y Alanay, C De Laet, ... Nature genetics 43 (2), 132-137, 2011 | 183 | 2011 |
| Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome N Dagoneau, D Scheffer, C Huber, LI Al-Gazali, M Di Rocco, A Godard, ... The American Journal of Human Genetics 74 (2), 298-305, 2004 | 171 | 2004 |
| NANS-mediated synthesis of sialic acid is required for brain and skeletal development CDM Van Karnebeek, L Bonafé, XY Wen, M Tarailo-Graovac, S Balzano, ... Nature Genetics 48 (7), 777-784, 2016 | 152 | 2016 |
| Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments S Unger, JT Hecht American journal of medical genetics 106 (4), 244-250, 2001 | 149 | 2001 |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB LS Bicknell, C Farrington-Rock, Y Shafeghati, P Rump, Y Alanay, ... Journal of medical genetics 44 (2), 89-98, 2007 | 147 | 2007 |
| Nosology of genetic skeletal disorders: 2023 revision S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ... American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023 | 144 | 2023 |
| Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders M Nakajima, S Mizumoto, N Miyake, R Kogawa, A Iida, H Ito, H Kitoh, ... The American Journal of Human Genetics 92 (6), 927-934, 2013 | 136 | 2013 |
| Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease PO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ... New England Journal of Medicine 374 (26), 2553-2562, 2016 | 135 | 2016 |
| FAM111A mutations result in hypoparathyroidism and impaired skeletal development S Unger, MW Górna, A Le Béchec, S Do Vale-Pereira, MF Bedeschi, ... The American Journal of Human Genetics 92 (6), 990-995, 2013 | 127 | 2013 |
| Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia AB Campos-Xavier, D Martinet, J Bateman, D Belluoccio, L Rowley, ... The American Journal of Human Genetics 84 (6), 760-770, 2009 | 125 | 2009 |
| 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 |
| Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections JAN Meester, G Vandeweyer, I Pintelon, M Lammens, L Van Hoorick, ... Genetics in Medicine 19 (4), 386-395, 2017 | 116 | 2017 |
| Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis P Hermanns, S Unger, A Rossi, A Perez-Aytes, H Cortina, L Bonafé, ... The American Journal of Human Genetics 82 (6), 1368-1374, 2008 | 108 | 2008 |
