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Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.Proceedings of the National Academy of Sciences of the United States of America|November 22, 2013
Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germlineEleni Giannoulatou, Gilean McVean, Indira B Taylor, et al.American Journal of Human Genetics|November 15, 2011
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndromeJill Clayton-Smith, James O'Sullivan, Sarah Daly, et al.American Journal of Medical Genetics. Part A|November 14, 2014
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenuesKatherine A Rauen, Susan M Huson, Emma Burkitt-Wright, et al.European Journal of Medical Genetics|July 25, 2015
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patientsAna Beleza-Meireles, Rachel Hart, Jill Clayton-Smith, et al.Nature Genetics|May 27, 2003
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix proteinLesley McGregor, Ville Makela, Susan M Darling, et al.Journal of Medical Genetics|January 24, 2018
Catalogue of inherited disorders found among the Irish Traveller populationSally Ann Lynch, Ellen Crushell, Deborah M Lambert, et al.Orphanet Journal of Rare Diseases|April 27, 2020
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disordersMichael Smith, Elizabeth Alexander, Ruta Marcinkute, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Mutation-based growth charts for SEDC and other COL2A1 related dysplasiasPaulien A Terhal, Paula van Dommelen, Martine Le Merrer, et al.Pageof 7