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European Journal of Human Genetics : EJHG|March 3, 2021
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relativesSarah Bennett, Elizabeth Alexander, Harry Fraser, 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.European Journal of Human Genetics : EJHG|July 24, 2019
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)Kaori Yamoto, Hirotomo Saitsu, Gen Nishimura, et al.European Journal of Human Genetics : EJHG|August 1, 2019
Ethnic differences in prevalence of Dupuytren disease can partly be explained by known genetic risk variantsSophie A Riesmeijer, Paul M N Werker, Ilja M NolteEuropean Journal of Human Genetics : EJHG|April 18, 2024
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insuranceCassandra Muller, Lyndon Gallacher, Louise Keogh, et al.European Journal of Human Genetics : EJHG|August 14, 2014
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literatureMerel Klaassens, Deborah Morrogh, Elisabeth M Rosser, et al.European Journal of Human Genetics : EJHG|August 14, 2014
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontiaAnn-Sophie Kaiser, Bianca Maas, Anna Wolff, et al.European Journal of Human Genetics : EJHG|August 21, 2014
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndromeAlma Kuechler, Alexander M Zink, Thomas Wieland, et al.European Journal of Human Genetics : EJHG|March 10, 2016
Mayans: a Y chromosome perspectiveDavid Perez-Benedico, Joel La Salvia, Zhaoshu Zeng, et al.European Journal of Human Genetics : EJHG|March 3, 2016
Comparative transcriptome analysis of muscular dystrophy models Large(myd), Dmd(mdx)/Large(myd) and Dmd(mdx): what makes them different?Camila F Almeida, Poliana Cm Martins, Mariz VainzofPageof 563