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American Journal of Medical Genetics. Part A|January 13, 2021
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelinationKatharine Edgerley, Angela Barnicoat, Amaka C Offiah, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 13, 2019
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome RegistryDorothy K Grange, Helen I Roessler, Conor McClenaghan, et al.Genome Medicine|July 26, 2022
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes ProjectAlexander J M Blakes, Htoo A Wai, Ian Davies, et al.European Journal of Human Genetics : EJHG|February 17, 2021
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K<sup>+</sup> channelopathiesKaren W Gripp, Sarah F Smithson, Ingrid J Scurr, et al.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.European Journal of Human Genetics : EJHG|March 23, 2017
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal featuresKaren J Low, Morad Ansari, Rami Abou Jamra, et al.Archives of Disease in Childhood|January 21, 2026
UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi processToby P Candler, Kate Ali, Emma Bewick, et al.Nature Genetics|June 28, 2011
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndromeAlexander Hoischen, Bregje W M van Bon, Benjamín Rodríguez-Santiago, et al.European Journal of Pediatrics|December 17, 2009
Schimke immunoosseous dysplasia: defining skeletal featuresKshamta B Hunter, Thomas Lücke, Jürgen Spranger, et al.Pageof 5