Collection 18 February 2020

The best of the European Journal of Human Genetics 2018 - 2019

See what scientists world-wide have been citing, reading and sharing.

In this Web Collection we highlight a selection of articles from 2018 and 2019 which top the list of the journal's most cited, most read and most shared (including press coverage, blogs, Twitter and Facebook). They showcase the breadth of scope and coverage that the European Journal of Human Genetics consistently delivers to its readers.

Content

Recent developments in genetics and medically assisted reproduction: from research to clinical applications
- J. C. Harper
- K. Aittomäki
- on behalf of the European Society of Human Reproduction and Embryology and European Society of Human Genetics
Review ArticleOpen Access4 Dec 2017 European Journal of Human Genetics
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
- Gregory Costain
- Rebekah Jobling
- Christian R. Marshall
Brief Communication16 Feb 2018 European Journal of Human Genetics
Primary brain calcification: an international study reporting novel variants and associated phenotypes
- Eliana Marisa Ramos
- Miryam Carecchio
- Gaël Nicolas
Article28 Jun 2018 European Journal of Human Genetics
Circulating cell-free nucleic acids: characteristics and applications
- Ondrej Pös
- Orsolya Biró
- Bálint Nagy
Review Article23 Apr 2018 European Journal of Human Genetics
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
- Mélanie Rama
- Claire Duflos
- Guillaume Sarrabay
Article23 Apr 2018 European Journal of Human Genetics
Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation
- Mahsa Shabani
- Pascal Borry
Review Article29 Nov 2017 European Journal of Human Genetics
One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans
- Heidi C. Howard
- Carla G. van El
- on behalf of the Public and Professional Policy Committee of the European Society of Human Genetics
PolicyOpen Access30 Nov 2017 European Journal of Human Genetics
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
- Hanns Lochmüller
- Dorota M. Badowska
- EURenOmics consortium
Review ArticleOpen Access27 Feb 2018 European Journal of Human Genetics
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis
- Project MinE ALS Sequencing Consortium
ArticleOpen Access28 Jun 2018 European Journal of Human Genetics
The Global State of the Genetic Counseling Profession
- MaryAnn Abacan
- Lamia Alsubaie
- Catherine Wicklund
Review ArticleOpen Access5 Oct 2018 European Journal of Human Genetics
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
- Oliver James Dillon
- Sebastian Lunke
- Tiong Yang Tan
Article16 Feb 2018 European Journal of Human Genetics
The FAIR guiding principles for data stewardship: fair enough?
- Martin Boeckhout
- Gerhard A. Zielhuis
- Annelien L. Bredenoord
Viewpoint17 May 2018 European Journal of Human Genetics
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
- Daniele Carrieri
- Heidi C. Howard
- On behalf of the European Society of Human Genetics
PolicyOpen Access11 Oct 2018 European Journal of Human Genetics
Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms
- Danya F. Vears
- Emilia Niemiec
- Pascal Borry
Article24 Aug 2018 European Journal of Human Genetics
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
- Núria Camats
- Mónica Fernández-Cancio
- Christa E. Flück
Article11 Jun 2018 European Journal of Human Genetics
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe
- Fabio Sirchia
- Daniele Carrieri
- Susan E. Kelly
Article23 Apr 2018 European Journal of Human Genetics
Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia
- Elvira D’Andrea
- Tyra Lagerberg
- Paolo Villari
ArticleOpen Access26 Jan 2018 European Journal of Human Genetics
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
- Matthis Synofzik
- Katherine L. Helbig
- Rebecca Schüle
Article20 Jun 2018 European Journal of Human Genetics
Human germline gene editing: Recommendations of ESHG and ESHRE
- Guido de Wert
- Guido Pennings
- On behalf of the European Society of Human Genetics and the European Society of Human Reproduction and Embryology
PolicyOpen Access12 Jan 2018 European Journal of Human Genetics
Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE
- Guido De Wert
- Björn Heindryckx
- On behalf of the European Society of Human Genetics and the European Society of Human Reproduction and Embryology
PolicyOpen Access12 Jan 2018 European Journal of Human Genetics
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease
- Rick Kamps
- Radek Szklarczyk
- Hubert J. M. Smeets
Article13 Feb 2018 European Journal of Human Genetics
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study
- Lea Godino
- Leigh Jackson
- Heather Skirton
Article21 Nov 2017 European Journal of Human Genetics
Points to consider for laboratories reporting results from diagnostic genomic sequencing
- D. F. Vears
- K. Sénécal
- P. Borry
Article28 Nov 2017 European Journal of Human Genetics
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
The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design
- Paul Lacaze
- Mark Pinese
- David M. Thomas
ArticleOpen Access24 Oct 2018 European Journal of Human Genetics
People from Ibiza: an unexpected isolate in the Western Mediterranean
- Simone Andrea Biagini
- Neus Solé-Morata
- Francesc Calafell
Article14 Feb 2019 European Journal of Human Genetics
A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat
- Tom Schipper
- Mario Van Poucke
- Luc J. Peelman
Article4 Jun 2019 European Journal of Human Genetics
Mitochondrial DNA variability of the Polish population
- Justyna Jarczak
- Łukasz Grochowalski
- Dominik Strapagiel
ArticleOpen Access21 Mar 2019 European Journal of Human Genetics
The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
- Ciara Staunton
- Santa Slokenberga
- Deborah Mascalzoni
PolicyOpen Access17 Apr 2019 European Journal of Human Genetics
Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia
- Natalia Balinova
- Helen Post
- Siiri Rootsi
ArticleOpen Access11 Apr 2019 European Journal of Human Genetics
The Dutch Y-chromosomal landscape
- Eveline Altena
- Risha Smeding
- Peter de Knijff
ArticleOpen Access5 Sep 2019 European Journal of Human Genetics
Return of individual genomic research results: are laws and policies keeping step?
- Adrian Thorogood
- Gratien Dalpé
- Bartha Maria Knoppers
ArticleOpen Access8 Jan 2019 European Journal of Human Genetics
Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors
- Clara Serra-Juhe
- Eduardo F. Tizzano
Review ArticleOpen Access3 May 2019 European Journal of Human Genetics

The best of the European Journal of Human Genetics 2018 - 2019

Content

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Primary brain calcification: an international study reporting novel variants and associated phenotypes

Circulating cell-free nucleic acids: characteristics and applications

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

The Global State of the Genetic Counseling Profession

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders

The FAIR guiding principles for data stewardship: fair enough?

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

Human germline gene editing: Recommendations of ESHG and ESHRE

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study

Points to consider for laboratories reporting results from diagnostic genomic sequencing

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

The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design

People from Ibiza: an unexpected isolate in the Western Mediterranean

A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Mitochondrial DNA variability of the Polish population

The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks

Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia

The Dutch Y-chromosomal landscape

Return of individual genomic research results: are laws and policies keeping step?

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors

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