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European Journal of Human Genetics : EJHG|September 27, 2025
The importance of accurate phenotyping in large-scale analyses of common disorders such as hearing lossMorag A Lewis, Bradley A Schulte, Judy R Dubno, et al.
European Journal of Human Genetics : EJHG|July 29, 2025
"It's a Godsend": Parental experiences of genomic testing for paediatric inborn errors of immunityAmy Clark, Emily DeBortoli, Marisa Blancoe, et al.
European Journal of Human Genetics : EJHG|August 24, 2021
Parents' experiences of decision making for rapid genomic sequencing in intensive careFiona Lynch, Amy Nisselle, Zornitza Stark, et al.
European Journal of Human Genetics : EJHG|August 27, 2021
Cascade health service use in family members following genetic testing in children: a scoping literature reviewAlexandra Cernat, Robin Z Hayeems, Wendy J Ungar
European Journal of Human Genetics : EJHG|May 13, 2021
Balancing scientific interests and the rights of participants in designing a recall by genotype studyDeborah Mascalzoni, Roberta Biasiotto, Max Borsche, et al.
European Journal of Human Genetics : EJHG|June 10, 2020
Is HSPG2 a modifier gene for Marfan syndrome?Isabela Gerdes Gyuricza, Rodrigo Barbosa de Souza, Luis Ernesto Farinha-Arcieri, et al.
European Journal of Human Genetics : EJHG|June 12, 2020
Web-based return of BRCA2 research results: one-year genetic counselling experience in IcelandVigdis Stefansdottir, Eirny Thorolfsdottir, Hakon B Hognason, et al.
European Journal of Human Genetics : EJHG|June 14, 2020
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndromeMarc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, et al.
European Journal of Human Genetics : EJHG|June 17, 2020
AAV-mediated FOXG1 gene editing in human Rett primary cellsSusanna Croci, Miriam Lucia Carriero, Katia Capitani, et al.
European Journal of Human Genetics : EJHG|April 28, 2021
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophreniaRestuadi Restuadi, Fleur C Garton, Beben Benyamin, et al.
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