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European Journal of Human Genetics : EJHG|September 20, 2019
MNS1 variant associated with situs inversus and male infertilityJoseph S Leslie, Lettie E Rawlins, Barry A Chioza, et al.
European Journal of Human Genetics : EJHG|September 21, 2019
Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from fundersAdam L Hartman, Anneliene Hechtelt Jonker, Melissa A Parisi, et al.
European Journal of Human Genetics : EJHG|February 16, 2019
People from Ibiza: an unexpected isolate in the Western MediterraneanSimone Andrea Biagini, Neus Solé-Morata, Elizabeth Matisoo-Smith, et al.
European Journal of Human Genetics : EJHG|February 24, 2019
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathyIlse Luyckx, Gretchen MacCarrick, Marlies Kempers, et al.
European Journal of Human Genetics : EJHG|January 22, 2021
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic researchChristine R Critchley, Jennifer Fleming, Dianne Nicol, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndromeAlexander J M Dingemans, Diante E Stremmelaar, Roos van der Donk, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsyZerin Hyder, Wim Van Paesschen, Ataf Sabir, et al.
European Journal of Human Genetics : EJHG|February 6, 2021
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathyJohann Kaspar Lieberwirth, Pascal Joset, Anja Heinze, et al.
European Journal of Human Genetics : EJHG|February 17, 2021
Normalising life at risk of Huntington's disease. A qualitative study of backgrounds and coping strategies of fears of genetic discriminationAnnet Wauters, Ine Van Hoyweghen
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