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European Journal of Human Genetics : EJHG|January 27, 2018
Clinical utility gene card for McArdle diseaseRhonda L Taylor, Mark Davis, Emma Turner, et al.
European Journal of Human Genetics : EJHG|March 28, 2018
Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertilityYeşerin Yıldırım, Toufik Ouriachi, Ute Woehlbier, et al.
European Journal of Human Genetics : EJHG|February 10, 2018
How is genetic testing evaluated? A systematic review of the literatureErica Pitini, Corrado De Vito, Carolina Marzuillo, et al.
European Journal of Human Genetics : EJHG|February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndromeAudrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
γ-glutamyl transpeptidase deficiency caused by a large homozygous intragenic deletion in GGT1Niklas Darin, Karin Leckström, Per Sikora, et al.
European Journal of Human Genetics : EJHG|February 2, 2018
Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and PakistanShenaz Ahmed, Huso Yi, Dong Dong, et al.
European Journal of Human Genetics : EJHG|February 3, 2018
A clinical and molecular characterisation of CRB1-associated maculopathyKamron N Khan, Anthony Robson, Omar A R Mahroo, et al.
European Journal of Human Genetics : EJHG|March 8, 2018
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancyK J Low, K Stals, R Caswell, et al.
European Journal of Human Genetics : EJHG|February 18, 2018
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testingGregory Costain, Rebekah Jobling, Susan Walker, et al.
European Journal of Human Genetics : EJHG|February 23, 2018
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorderSilvia Morlino, Marco Castori, Chiara Dordoni, et al.
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