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Nature Communications|September 2, 2015
Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humansLouise E Docherty, Faisal I Rezwan, Rebecca L Poole, 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.The Journal of Clinical Investigation|June 10, 2014
Hypomorphic PCNA mutation underlies a human DNA repair disorderEmma L Baple, Helen Chambers, Harold E Cross, et al.European Journal of Human Genetics : EJHG|November 30, 2017
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumferenceAurélien Trimouille, Nada Houcinat, Marie-Laure Vuillaume, et al.Iscience|August 12, 2025
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescueMelanie J Ludlow, Oleksandr V Povstyan, Deborah M Linley, et al.The Journal of Clinical Investigation|July 12, 2016
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalisSilvia Martin-Almedina, Ines Martinez-Corral, Rita Holdhus, et al.European Journal of Human Genetics : EJHG|December 13, 2021
Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal studyClaire Forde, Emma Burkitt-Wright, Peter D Turnpenny, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.Nature Genetics|December 17, 2008
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesisZandra A Jenkins, Margriet van Kogelenberg, Tim Morgan, et al.American Journal of Medical Genetics. Part A|November 2, 2011
The male phenotype in osteopathia striata congenita with cranial sclerosisSarah K Holman, Phil Daniel, Zandra A Jenkins, et al.Pageof 16