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Special Issue on Severity in the Genomic Age
This special issue will bring together key work in this area, including outputs from a recent Brocher Foundation workshop ‘Severity in the genomic age: clarification and applications’ (June 2023).
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Abstracts from the 55th European Society of Human Genetics (ESHG) Conference
Image: Hand with dna: Natali_Mis / iStock / Getty Images Plus; Geometric background: berya113 / iStock / Getty Images Plus; Dotted background image: ithinksky / E+ / Getty. -
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Editor's Choice
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.
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Call for Papers: Genomic Testing in Low and Middle Income Countries (LMIC)
We invite submissions for a special issue in EJHG on genomic testing in low and middle income countries. This is an important and timely topic, as genomic testing has the potential to revolutionize healthcare in these regions, but it also presents unique challenges and ethical considerations.
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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.
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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.
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Abstracts from the 54th European Society of Human Genetics (ESHG) Conference
Image: Hand with dna: Natali_Mis / iStock / Getty Images Plus; Geometric background: berya113 / iStock / Getty Images Plus; Dotted background image: ithinksky / E+ / Getty. -
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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.
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New genes causing rare disease
A molecular genetic diagnosis can provide crucial information on prognosis, treatment and recurrence risk. Advances in modern genomic testing have lead to an increasing number of rare disease genes being identified. This web collection makes available papers on some newly identified genetic conditions, with useful information for clinical practice.
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Genetic Testing
The Clinical Genetics research community focuses much of its attention on improving technologies for genetic diagnosis. Of equal importance is understanding the impact of genetic testing on families and their preferences. This collection of papers highlights important recent work published in EJHG focusing on these issues.
Image: TEK IMAGE/SCIENCE PHOTO LIBRARY -
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Reader's Choice 2020
See what scientists worldwide have been reading, citing and sharing.
Image: Mordolff, Getty