Collection 19 August 2022

Celebrating 30 years of the European Journal of Human Genetics

We are pleased to celebrate the 30th year of publication of the European Journal of Human Genetics.
We present a selection of papers, chosen by our editorial board to showcase the best of our journal's history.

Explorer

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
- Stéphanie Nguengang Wakap
- Deborah M. Lambert
- Ana Rath
ArticleOpen Access16 Sep 2019 European Journal of Human Genetics
Disease gene identification strategies for exome sequencing
- Christian Gilissen
- Alexander Hoischen
- Joris A Veltman
Review18 Jan 2012 European Journal of Human Genetics
The emergence of an ethical duty to disclose genetic research results: international perspectives
- Bartha Maria Knoppers
- Yann Joly
- Francine Durocher
Article26 Jul 2006 European Journal of Human Genetics
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- Daniel Trujillano
- Aida M Bertoli-Avella
- Rami Abou Jamra
ArticleOpen Access16 Nov 2016 European Journal of Human Genetics
Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect
- Linda Broer
- Veryan Codd
- Dorret I Boomsma
Article16 Jan 2013 European Journal of Human Genetics
A text-mining analysis of the human phenome
- Marc A van Driel
- Jorn Bruggeman
- Jack A M Leunissen
Article22 Feb 2006 European Journal of Human Genetics
Genomic inflation factors under polygenic inheritance
- Jian Yang
- Michael N Weedon
- the GIANT Consortium
Article16 Mar 2011 European Journal of Human Genetics
Hardy–Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power
- Georgia Salanti
- Georgia Amountza
- John P A Ioannidis
Article13 Apr 2005 European Journal of Human Genetics
Process and outcome in communication of genetic information within families: a systematic review
- Clara L Gaff
- Angus J Clarke
- Adrian Edwards
Review4 Jul 2007 European Journal of Human Genetics
Sex-specific, male-line transgenerational responses in humans
- Marcus E Pembrey
- Lars Olov Bygren
- The ALSPAC Study Team
Article14 Dec 2005 European Journal of Human Genetics
Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease
- Mehrdad Khajavi
- Ken Inoue
- James R Lupski
Review7 Jun 2006 European Journal of Human Genetics
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population
- Elisa Benetti
- Rossella Tita
- Anna Maria Pinto
ArticleOpen Access17 Jul 2020 European Journal of Human Genetics
Craniosynostosis
- David Johnson
- Andrew O M Wilkie
Practical Genetics19 Jan 2011 European Journal of Human Genetics
von Hippel–Lindau disease: A clinical and scientific review
- Eamonn R Maher
- Hartmut PH Neumann
- Stéphane Richard
Practical Genetics9 Mar 2011 European Journal of Human Genetics
Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
- Barbara Pasini
- Sarah R McWhinney
- Constantine A Stratakis
Article1 Aug 2007 European Journal of Human Genetics
The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic
- The COVID-19 Host Genetics Initiative
PolicyOpen Access13 May 2020 European Journal of Human Genetics
Whole-genome sequencing in health care
- Carla G van El
- Martina C Cornel
- on behalf of the ESHG Public and Professional Policy Committee
Policy16 May 2013 European Journal of Human Genetics
Dynamic consent: a patient interface for twenty-first century research networks
- Jane Kaye
- Edgar A Whitley
- Karen Melham
ArticleOpen Access7 May 2014 European Journal of Human Genetics
Population genetic screening programmes: principles, techniques, practices, and policies
- Béatrice Godard
- Leo ten Kate
- Ségolène Aymé
Review13 Jan 2004 European Journal of Human Genetics
Psychological consequences of predictive genetic testing: a systematic review
- Marita Broadstock
- Susan Michie
- Theresa Marteau
Review3 Oct 2000 European Journal of Human Genetics
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities
- Frauke Becker
- Carla G van El
- Martina C Cornel
Policy17 Mar 2011 European Journal of Human Genetics
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies
- Nicola Glöckle
- Susanne Kohl
- John Neidhardt
Article17 Apr 2013 European Journal of Human Genetics
Beckwith–Wiedemann syndrome
- Rosanna Weksberg
- Cheryl Shuman
- J Bruce Beckwith
Practical Genetics24 Jun 2009 European Journal of Human Genetics
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
- Maria Loane
- Joan K Morris
- Helen Dolk
Article20 Jun 2012 European Journal of Human Genetics
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome
- Angela L Duker
- Blake C Ballif
- Trilochan Sahoo
Article30 Jun 2010 European Journal of Human Genetics
Guidelines for diagnostic next-generation sequencing
- Gert Matthijs
- Erika Souche
- Peter Bauer
PolicyOpen Access28 Oct 2015 European Journal of Human Genetics
Bardet–Biedl syndrome
- Elizabeth Forsythe
- Philip L Beales
Practical Genetics20 Jun 2012 European Journal of Human Genetics
Transgenerational response to nutrition, early life circumstances and longevity
- Gunnar Kaati
- Lars Olov Bygren
- Michael Sjöström
Article25 Apr 2007 European Journal of Human Genetics
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
- Leslie Matalonga
- Carles Hernández-Ferrer
- the Solve-RD Consortia
ArticleOpen Access1 Jun 2021 European Journal of Human Genetics
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling
- Dhanya Lakshmi Narayanan
- Divya Udyawar
- Anju Shukla
ArticleOpen Access19 Jul 2021 European Journal of Human Genetics

Celebrating 30 years of the European Journal of Human Genetics

Explorer

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Disease gene identification strategies for exome sequencing

The emergence of an ethical duty to disclose genetic research results: international perspectives

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect

A text-mining analysis of the human phenome

Genomic inflation factors under polygenic inheritance

Hardy–Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power

Process and outcome in communication of genetic information within families: a systematic review

Sex-specific, male-line transgenerational responses in humans

Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Craniosynostosis

von Hippel–Lindau disease: A clinical and scientific review

Clinical and molecular genetics of patients with the Carney–Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD

The COVID-19 Host Genetics Initiative, a global initiative to elucidate the role of host genetic factors in susceptibility and severity of the SARS-CoV-2 virus pandemic

Whole-genome sequencing in health care

Dynamic consent: a patient interface for twenty-first century research networks

Population genetic screening programmes: principles, techniques, practices, and policies

Psychological consequences of predictive genetic testing: a systematic review

Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Beckwith–Wiedemann syndrome

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Guidelines for diagnostic next-generation sequencing

Bardet–Biedl syndrome

Transgenerational response to nutrition, early life circumstances and longevity

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

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