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Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis ZA Jenkins, M van Kogelenberg, T Morgan, A Jeffs, R Fukuzawa, E Pearl, ... Nature genetics 41 (1), 95-100, 2009 | 218 | 2009 |
Dominant missense mutations in ABCC9 cause Cantú syndrome M Harakalova, JJT Van Harssel, PA Terhal, S Van Lieshout, K Duran, ... Nature genetics 44 (7), 793-796, 2012 | 214 | 2012 |
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum S Banka, R Veeramachaneni, W Reardon, E Howard, S Bunstone, ... European Journal of Human Genetics 20 (4), 381-388, 2012 | 204 | 2012 |
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene DM Hagan, AJ Ross, T Strachan, SA Lynch, V Ruiz-Perez, YM Wang, ... The American Journal of Human Genetics 66 (5), 1504-1515, 2000 | 161 | 2000 |
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 135 | 2016 |
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Mutations in HPSE2 cause urofacial syndrome SB Daly, JE Urquhart, E Hilton, EA McKenzie, RA Kammerer, M Lewis, ... The American Journal of Human Genetics 86 (6), 963-969, 2010 | 121 | 2010 |
Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ... Molecular psychiatry 26 (8), 4496-4510, 2021 | 119 | 2021 |
Toward the effective surveillance of hypospadias. H Dolk, M Vrijheid, JES Scott, MC Addor, B Botting, C de Vigan, ... Environmental health perspectives 112 (3), 398-402, 2004 | 117 | 2004 |
Evaluation of the prenatal diagnosis of neural tube defects by fetal ultrasonographic examination in different centres across Europe PA Boyd, DG Wellesley, HEK De Walle, R Tenconi, S Garcia-Minaur, ... Journal of medical screening 7 (4), 169-174, 2000 | 114 | 2000 |
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A E Reinstein, S Frentz, T Morgan, S García-Miñaúr, RJ Leventer, ... European Journal of Human Genetics 21 (5), 494-502, 2013 | 112 | 2013 |
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams, SR Hooper, ... Nature medicine 26 (12), 1912-1918, 2020 | 111 | 2020 |
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1, 25 (OH) 2 D serum levels are associated with PHEX … M Morey, L Castro-Feijóo, J Barreiro, P Cabanas, M Pombo, M Gil, ... BMC medical genetics 12, 1-11, 2011 | 107 | 2011 |
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis BWM van Bon, DA Koolen, R Borgatti, A Magee, S Garcia-Minaur, ... Journal of medical genetics 45 (6), 346-354, 2008 | 102 | 2008 |
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations M Yaoita, T Niihori, S Mizuno, N Okamoto, S Hayashi, A Watanabe, ... Human genetics 135, 209-222, 2016 | 98 | 2016 |
Simpson-Golabi-Behmel syndrome types I and II J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ... Orphanet Journal of Rare Diseases 9, 1-8, 2014 | 97 | 2014 |
Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity SP Robertson, ZA Jenkins, T Morgan, L Adès, S Aftimos, O Boute, ... American journal of medical genetics Part A 140 (16), 1726-1736, 2006 | 95 | 2006 |
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth … RH Scott, J Douglas, L Baskcomb, AO Nygren, JM Birch, TR Cole, ... Journal of Medical Genetics 45 (2), 106-113, 2008 | 91 | 2008 |
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