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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 |
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 | 193 | 2012 |
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EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis S Martin-Almedina, I Martinez-Corral, R Holdhus, A Vicente, E Fotiou, ... The Journal of clinical investigation 126 (8), 3080-3088, 2016 | 102 | 2016 |
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients S Moortgat, S Berland, I Aukrust, I Maystadt, L Baker, V Benoit, ... European Journal of Human Genetics 26 (1), 64-74, 2018 | 93 | 2018 |
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Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015 | 62 | 2015 |
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 60 | 2019 |
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PHF6 deletions may cause Borjeson-Forssman-Lehmann syndrome in females S Berland, K Alme, A Brendehaug, G Houge, R Hovland Molecular syndromology 1 (6), 294-300, 2011 | 42 | 2011 |
NFIB haploinsufficiency is associated with intellectual disability and macrocephaly I Schanze, J Bunt, JWC Lim, D Schanze, RJ Dean, M Alders, P Blanchet, ... The American Journal of Human Genetics 103 (5), 752-768, 2018 | 40 | 2018 |
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features JS Cohen, S Srivastava, KD Farwell Hagman, DN Shinde, R Huether, ... Clinical Genetics 91 (5), 697-707, 2017 | 38 | 2017 |
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability S Johansson, S Berland, GA Gradek, E Bongers, N de Leeuw, R Pfundt, ... American Journal of Medical Genetics Part A 164 (7), 1622-1626, 2014 | 38 | 2014 |
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The intronic ABCA4 c.5461‐10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level I Aukrust, RW Jansson, C Bredrup, HE Rusaas, S Berland, A Jørgensen, ... Acta Ophthalmologica 95 (3), 240-246, 2017 | 33 | 2017 |
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