European Journal of Human Genetics

DNA

Welcome to European Journal of Human Genetics

Providing insights into human genetics, genomics, molecular, clinical and cytogenetics research

Featured

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Sofia Douzgou
Janet Dell’Oro
Raoul C. M. Hennekam
Article 06 Apr 2022
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments

Lottie D. Morison
Ruth O. Braden
Angela T. Morgan
Article 18 Apr 2022
The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients

Jarbas Maciel de Oliveira
Nuria Bengala Zurro
João Bosco Oliveira
Article 09 May 2022
Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer

Gustavo Noriz Berardinelli
Ronílson Durães
Rui Manuel Reis
Article 26 Apr 2022

Current issue

Exome sequencing—one test to rule them all?

Alisdair McNeill
Editorial 22 Jul 2022
COVID-19: a challenge and an opportunity

Alessandra Renieri
Editorial Open Access 15 Jul 2022
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials

Chengliang Yang
Hedi Zhao
Scott J. Tebbutt
Viewpoint 28 Jan 2022
Exploring the ethics of genetic prioritisation for COVID-19 vaccines

Jago Bruce
Stephanie B. Johnson
Review Article Open Access 07 Mar 2022
Coronavirus Host Genetics South Africa (COHG-SA) database—a variant database for gene regions associated with SARS-CoV-2 outcomes

Fatima Barmania
Juanita Mellet
Michael S. Pepper
Review Article Open Access 29 Mar 2022
A comprehensive SARS-CoV-2 and COVID-19 review, Part 1: Intracellular overdrive for SARS-CoV-2 infection

David A. Jamison Jr.
S. Anand Narayanan
Afshin Beheshti
Review Article Open Access 16 May 2022

Volume 30 Issue 8

Contents

View all issues

Announcements

Reader's Choice 2021

EJHG is pleased to share with you its latest collection showcasing the most popular papers of 2021. We hope you enjoy.
New genes causing rare diseases

Don't miss the journal's latest collection on genomic testing and rare diseases. All papers are free to read for 6 weeks.
Follow EJHG on Twitter!

Interact with the European Journal of Human Genetics like never before, and get the latest news and research delivered straight to your feed. Follow us on Twitter @ejhg_journal

European Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR via immediate gold Open Access.

Our Open Access option complies with funder and institutional requirements.

Browse articles

Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing

Haloom Rafehi
Cherie Green
Melanie Bahlo
Brief Communication Open Access 09 Aug 2022
Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners

Margo E. van Vliet
Jean-Louis H. Kerkhoffs
Elisa. J. F. Houwink
Article Open Access 09 Aug 2022
Minors at risk of von Hippel-Lindau disease: 10 years’ experience of predictive genetic testing and follow-up adherence

Roseline Vibert
Khadija Lahlou-Laforêt
Anne-Paule Gimenez-Roqueplo
Article 02 Aug 2022
The experiences of UK-based genetic counsellors working in mainstream settings

Ellie Quinn
Katherine Mazur
Article 02 Aug 2022
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant

Esra Yıldız Bölükbaşı
Justyna A. Karolak
Paweł Stankiewicz
Brief Communication 28 Jul 2022
Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study

Grace Dowling
Jane Tiller
Paul Lacaze
Article Open Access 28 Jul 2022
Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study

Hazar Haidar
Stanislav Birko
Vardit Ravitsky
Article 28 Jul 2022
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge

Lore Lannoo
Khaila van Straaten
Koenraad Devriendt
Review Article 27 Jul 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

Viola Alesi
Francesca Romana Lepri
Maria Cristina Digilio
Article 26 Jul 2022

Collections

Image of DNA string

Human Genomic Aspects of the COVID-19 Pandemic

This collection covers articles on COVID-19 host genomics with an aim to increase our understanding of host genomic aspects that predispose to infection and transmission of COVID-19 and contribute to illness severity.

Collection 03 Aug 2022

Advertisement

Trending - Altmetric

Advanced search

Quick links