Collection 10 February 2022

Reader's Choice 2021

In this collection we highlight a selection of articles from 2021, which top the list of the journal’s most cited, downloaded and most shared (including press coverage, blogs, Twitter, Facebook and Weibo). They showcase the breadth of scope and coverage that the journal consistently delivers to its readers.

Content

The genetic structure of Norway
- Morten Mattingsdal
- S. Sunna Ebenesersdóttir
- Eivind Hovig
ArticleOpen Access17 May 2021 European Journal of Human Genetics
Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy
- Vratko Himič
- Kay E. Davies
Review ArticleOpen Access9 Feb 2021 European Journal of Human Genetics
Stepwise ABC system for classification of any type of genetic variant
- Gunnar Houge
- Andreas Laner
- Johan T. den Dunnen
ArticleOpen Access13 May 2021 European Journal of Human Genetics
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
- Samantha Pollard
- Deirdre Weymann
- Dean A. Regier
ArticleOpen Access26 Apr 2021 European Journal of Human Genetics
A comparison of genotyping arrays
- Joost A. M. Verlouw
- Eva Clemens
- Linda Broer
ArticleOpen Access18 Jun 2021 European Journal of Human Genetics
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
- Judy Savige
- Helen Storey
- Beata S. Lipska-Ziętkiewicz
Meeting ReportOpen Access15 Apr 2021 European Journal of Human Genetics
The ethics of genomic medicine: redefining values and norms in the UK and France
- Marie Gaille
- Ruth Horn
- The UK-FR GENE (Genetics and Ethics Network) Consortia
ArticleOpen Access17 Jan 2021 European Journal of Human Genetics
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
- Anne-Mai Ilumäe
- Helen Post
- Richard Villems
Article7 May 2021 European Journal of Human Genetics
Origins of human genetics. A personal perspective
- Eberhard Passarge
ViewpointOpen Access4 Feb 2021 European Journal of Human Genetics
Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers
- Zia Ur Rahman
- Jiao-Yang Tian
- Qing-Peng Kong
Article26 Feb 2021 European Journal of Human Genetics
The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that at least one child has been born after such a procedure. But the utility of a PRS in this respect is severely limited, and to date, no clinical research has been performed to assess its diagnostic effectiveness in embryos. Patients need to be properly informed on the limitations of this use of PRSs, and a societal debate, focused on what would be considered acceptable with regard to the selection of individual traits, should take place before any further implementation of the technique in this population.
- Francesca Forzano
- Olga Antonova
- the Public and Professional Policy Committee of the European Society of Human Genetics
ViewpointOpen Access17 Dec 2021 European Journal of Human Genetics
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
- Birte Zurek
- Kornelia Ellwanger
- Solve-RD consortium
ViewpointOpen Access1 Jun 2021 European Journal of Human Genetics
ESHG warns against misuses of genetic tests and biobanks for discrimination purposes
- Francesca Forzano
- Maurizio Genuardi
- On behalf of the European Society of Human Genetics
Policy18 Jan 2021 European Journal of Human Genetics
The genetic landscape of polycystic kidney disease in Ireland
- Katherine A. Benson
- Susan L. Murray
- Peter Conlon
Article16 Jan 2021 European Journal of Human Genetics
The limits of normal approximation for adult height
- Sergei A. Slavskii
- Ivan A. Kuznetsov
- Yurii S. Aulchenko
ArticleOpen Access4 Mar 2021 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
Genetic analysis of ALS cases in the isolated island population of Malta
- Rebecca Borg
- Maia Farrugia Wismayer
- Ruben J. Cauchi
ArticleOpen Access7 Jan 2021 European Journal of Human Genetics
Rapid genomic testing for critically ill children: time to become standard of care?
- Zornitza Stark
- Sian Ellard
Review Article8 Nov 2021 European Journal of Human Genetics
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research
- Sergio Daga
- Chiara Fallerini
- Elisa Frullanti
ArticleOpen Access17 Jan 2021 European Journal of Human Genetics
Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms
- Hui Luo
- Dan Liu
- Qian-fei Wang
Brief CommunicationOpen Access19 Apr 2021 European Journal of Human Genetics
Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
- Bertrand Chesneau
- Aurélie Plancke
- Philippe Khau Van Kien
ArticleOpen Access7 Jan 2021 European Journal of Human Genetics
‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research
- Matilda A. Haas
- Harriet Teare
- Tiffany Boughtwood
ArticleOpen Access6 Jan 2021 European Journal of Human Genetics
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions
- Felicity K. Boardman
- Corinna C. Clark
ArticleOpen Access27 Sep 2021 European Journal of Human Genetics

Reader's Choice 2021

Content

The genetic structure of Norway

Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy

Stepwise ABC system for classification of any type of genetic variant

Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

A comparison of genotyping arrays

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

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

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

Origins of human genetics. A personal perspective

Complete mitogenomes document substantial genetic contribution from the Eurasian Steppe into northern Pakistani Indo-Iranian speakers

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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

The genetic landscape of polycystic kidney disease in Ireland

The limits of normal approximation for adult height

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

Genetic analysis of ALS cases in the isolated island population of Malta

Rapid genomic testing for critically ill children: time to become standard of care?

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

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

What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions

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