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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 177 | 2014 |
Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis DB Sparrow, E Guillén-Navarro, D Fatkin, SL Dunwoodie Human molecular genetics 17 (23), 3761-3766, 2008 | 153 | 2008 |
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 … A Ali, PT Christie, IV Grigorieva, B Harding, H Van Esch, SF Ahmed, ... Human molecular genetics 16 (3), 265-275, 2007 | 148 | 2007 |
Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ... Human mutation 33 (10), 1444-1449, 2012 | 114 | 2012 |
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia J Plaisancié, I Bailleul‐Forestier, V Gaston, F Vaysse, D Lacombe, ... American Journal of Medical Genetics Part A 161 (4), 671-678, 2013 | 85 | 2013 |
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia CE Ott, G Leschik, F Trotier, L Brueton, HG Brunner, W Brussel, ... Human mutation 31 (8), E1587-E1593, 2010 | 78 | 2010 |
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Schimke immunoosseous dysplasia: suggestions of genetic diversity JM Clewing, H Fryssira, D Goodman, SF Smithson, EA Sloan, S Lou, ... Human mutation 28 (3), 273-283, 2007 | 68 | 2007 |
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Autosomal dominant oculoauriculovertebral spectrum and 14q23. 1 microduplication MJ Ballesta‐Martínez, V López‐González, LA Dulcet, ... American journal of medical genetics Part A 161 (8), 2030-2035, 2013 | 63 | 2013 |
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants B Paumard-Hernández, J Berges-Soria, E Barroso, CI Rivera-Pedroza, ... European Journal of Human Genetics 23 (7), 907-914, 2015 | 62 | 2015 |
Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques V Romanelli, HNM Meneses, L Fernández, V Martínez-Glez, ... European journal of human genetics 19 (4), 416-421, 2011 | 55 | 2011 |
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ... Nature 617 (7962), 764-768, 2023 | 54 | 2023 |
Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ... Molecular genetics & genomic medicine 5 (1), 28-39, 2017 | 51 | 2017 |
Novel genes and sex differences in COVID-19 severity R Cruz, S Diz-de Almeida, M López de Heredia, I Quintela, FC Ceballos, ... Human Molecular Genetics 31 (22), 3789-3806, 2022 | 50 | 2022 |
SRY gene expression in the ovotestes of XX true hermaphrodites J Ortenberg, C Oddoux, R Craver, K Mcelreavey, L Salas-Cortes, ... The Journal of urology 167 (4), 1828-1831, 2002 | 50 | 2002 |