European Journal of Human Genetics

Welcome to European Journal of Human Genetics

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

Latest issue

- GertJan B. van Ommen 28 September 1947–7 November 2020
  
  Mary Rice
  
  Obituary 16 Dec 2020
- Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes
  
  Adriana Kater-Kuipers
  Iris M. Bakkeren
  Eline M. Bunnik
  
  Article 05 Aug 2020
- Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands
  
  Reinder Broekstra
  Judith Aris-Meijer
  Sabine Otten
  
  Article Open Access 31 Jul 2020
- National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
  
  Kim Elsink
  Manon M. H. Huibers
  Mariëlle E. van Gijn
  
  Article 30 Jul 2020
- Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation
  
  Regina Müller
  Ali A. Aghdassi
  Sabine Salloch
  
  Article Open Access 12 Aug 2020
- How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples
  
  Ivy van Dijke
  Phillis Lakeman
  Lidewij Henneman
  
  Article Open Access 09 Aug 2020
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Featured

Featured Articles, January 2021

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

Announcement
Editor's Choice Collection

The Editor of European Journal of Human Genetics is delighted to share with you an Editor's Choice selection of key papers that highlight some of the best current research published in the journal. The Editor's Choice articles from the current issues will be freely accessible for one month.

Announcement
Impact of COVID-19 on journal operations

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.

Announcement
Follow European Journal of Human Genetics on Twitter!

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

Announcement

European Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR Open Access.
Our Open Access option complies with funder and institutional requirements.

Latest Research

Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions
Hanfei Xu
Karen Schwander
Ching-Ti Liu

Article 26 Jan 2021
Homozygous variants in PANX1 cause human oocyte death and female infertility
Weijie Wang
Ronggui Qu
Qing Sang

Article 25 Jan 2021
Semi-parametric empirical Bayes factor for genome-wide association studies
Junji Morisawa
Takahiro Otani
Shigeyuki Matsui

Article Open Access 25 Jan 2021
Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research
Christine R. Critchley
Jennifer Fleming
Ian Kerridge

Article 21 Jan 2021
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes
Francesca Forzano
Maurizio Genuardi
Yves Moreau

Policy 18 Jan 2021
The ethics of genomic medicine: redefining values and norms in the UK and France
Marie Gaille
Ruth Horn
Carine Vassy

Article Open Access 17 Jan 2021

News & Comment

In Memoriam: Gertjan van Ommen (1947–2020)
Bartha Maria Knoppers
Jasper Bovenberg

Obituary 19 Jan 2021
Reply to Veitia
Marcus Danielsson
Jonatan Halvardson
Lars A. Forsberg

Correspondence Open Access 18 Jan 2021
A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
Reiner A. Veitia

Correspondence 18 Jan 2021
GertJan B. van Ommen 28 September 1947–7 November 2020
Mary Rice

Obituary 16 Dec 2020
Reply to E. Vicente et al.
Ana Rath
Deborah M. Lambert
Yann Le Cam

Correspondence 01 Dec 2020
Regarding the estimations of people affected by rare diseases
Esther Vicente
Laura Pruneda
Eva Ardanaz

Correspondence 01 Dec 2020

Collections

ASHG 2019 Annual Meeting

The American Society of Human Genetics annual meeting is upon us, 15th - 19th October 2019 and will focus on all aspects of human genetics, particularly topics that integrate multiple basic science and clinical aspects of human genetic disease. The Editor-in-Chief of EJHG in the spirit of this important event is pleased to showcase the work of many in this field as they align with the critical themes of this exciting congress.

Collection 23 Sept 2019

Welcome to European Journal of Human Genetics

Latest issue

GertJan B. van Ommen 28 September 1947–7 November 2020

Non-invasive prenatal testing (NIPT): societal pressure or freedom of choice? A vignette study of Dutch citizens’ attitudes

Demographic and prosocial intrapersonal characteristics of biobank participants and refusers: the findings of a survey in the Netherlands

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Perceptions of genetic testing in patients with hereditary chronic pancreatitis and their families: a qualitative triangulation

How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples

Featured

Featured Articles, January 2021

Editor's Choice Collection

Impact of COVID-19 on journal operations

Follow European Journal of Human Genetics on Twitter!

Latest Research

Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

Homozygous variants in PANX1 cause human oocyte death and female infertility

Semi-parametric empirical Bayes factor for genome-wide association studies

Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research

ESHG warns against misuses of genetic tests and biobanks for discrimination purposes

The ethics of genomic medicine: redefining values and norms in the UK and France

News & Comment

In Memoriam: Gertjan van Ommen (1947–2020)

Reply to Veitia

A reply to: Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

GertJan B. van Ommen 28 September 1947–7 November 2020

Reply to E. Vicente et al.

Regarding the estimations of people affected by rare diseases

Collections

ASHG 2019 Annual Meeting

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ESHG warns against misuses of genetic tests and biobanks for discrimination purposes

‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

Molecular genetic overlap between migraine and major depressive disorder

The ethics of genomic medicine: redefining values and norms in the UK and France

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