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European Journal of Human Genetics : EJHG|November 22, 2017
The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impactHanns Lochmüller, Josep Torrent I Farnell, Yann Le Cam, et al.
European Journal of Human Genetics : EJHG|November 22, 2017
Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarrayRobin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, et al.
European Journal of Human Genetics : EJHG|November 24, 2017
Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis familiesTuuli Mustonen, Eeva-Kaisa Schmidt, Miko Valori, et al.
European Journal of Human Genetics : EJHG|March 31, 2018
Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family historyBettina Meiser, Veronica F Quinn, Gillian Mitchell, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position?Natalia Teixeira, Annemieke van der Hout, Jan C Oosterwijk, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetranceMatthieu Egloff, Lam-Son Nguyen, Karine Siquier-Pernet, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit populationEmil V R Appel, Ida Moltke, Marit E Jørgensen, et al.
European Journal of Human Genetics : EJHG|February 28, 2018
Novel variants in Nordic patients referred for genetic testing of telomere-related disordersAnna Norberg, Anna Rosén, Klas Raaschou-Jensen, et al.
European Journal of Human Genetics : EJHG|January 1, 2018
Regulatory variants of FOXG1 in the context of its topological domain organisationMana M Mehrjouy, Ana Carolina S Fonseca, Nadja Ehmke, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomaliesMax Krall, Stephanie Htun, Rhonda E Schnur, et al.
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