Collection 28 February 2019

The best of the European Journal of Human Genetics 2017 - 2018

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

In this Web Collection we highlight a selection of articles from 2017 and 2018 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

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
SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- Adam Ameur
- Johan Dahlberg
- Ulf Gyllensten
ArticleOpen Access23 Aug 2017 European Journal of Human Genetics
Genetics of the peloponnesean populations and the theory of extinction of the medieval peloponnesean Greeks
- George Stamatoyannopoulos
- Aritra Bose
- Petros Drineas
ArticleOpen Access8 Mar 2017 European Journal of Human Genetics
Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases
- Jacqueline Neubauer
- Maria Rita Lecca
- Cordula Haas
Article11 Jan 2017 European Journal of Human Genetics
1 in 38 individuals at risk of a dominant medically actionable disease
- Lonneke Haer-Wigman
- Vyne van der Schoot
- Helger G. Yntema
Article5 Oct 2018 European Journal of Human Genetics
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
- Lonneke Haer-Wigman
- Wendy AG van Zelst-Stams
- Helger G Yntema
ArticleOpen Access22 Feb 2017 European Journal of Human Genetics
Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
- Himanshu Chheda
- Priit Palta
- for the Sequencing Initiative Suomi (SISu) Project
ArticleOpen Access1 Feb 2017 European Journal of Human Genetics
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands
- Celia Zazo Seco
- Mieke Wesdorp
- Helger G Yntema
Article21 Dec 2016 European Journal of Human Genetics
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
- Alistair T Pagnamenta
- Yoshiko Murakami
- Usha Kini
ArticleOpen Access22 Mar 2017 European Journal of Human Genetics
Advantages of expanded universal carrier screening: what is at stake?
- Sanne van der Hout
- Kim CA Holtkamp
- Wybo J Dondorp
Article28 Sep 2016 European Journal of Human Genetics
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
- Salima El Chehadeh
- Wilhelmina S Kerstjens-Frederikse
- Laurence Faivre
Article2 Nov 2016 European Journal of Human Genetics
Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom
- Daniele Carrieri
- Sandi Dheensa
- Susan E Kelly
ArticleOpen Access4 Jan 2017 European Journal of Human Genetics
Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease
- Carmen Martín-Sierra
- Alvaro Gallego-Martinez
- Jose A Lopez-Escamez
Article23 Nov 2016 European Journal of Human Genetics
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
- Michael Parks
- Samantha Court
- Stephanie Allen
ArticleOpen Access25 Jan 2017 European Journal of Human Genetics
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project
- Saskia C Sanderson
- Michael D Linderman
- Eric E Schadt
ArticleOpen Access4 Jan 2017 European Journal of Human Genetics
Prevalence of congenital amusia
- Isabelle Peretz
- Dominique T Vuvan
Article22 Feb 2017 European Journal of Human Genetics
Recontacting in clinical genetics and genomic medicine? We need to talk about it
- Daniele Carrieri
- Sandi Dheensa
- Susan E Kelly
Letter8 Feb 2017 European Journal of Human Genetics
tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy
- Simon Edvardson
- Laurence Prunetti
- Orly Elpeleg
Article8 Mar 2017 European Journal of Human Genetics
Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease
- Ahmad Alodaib
- Nara Sobreira
- John Christodoulou
Article19 Oct 2016 European Journal of Human Genetics
Association analysis of dyslexia candidate genes in a Dutch longitudinal sample
- Amaia Carrion-Castillo
- Ben Maassen
- Simon E Fisher
Article11 Jan 2017 European Journal of Human Genetics
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
- Alma Kuechler
- Johanna Christina Czeschik
- Dagmar Wieczorek
Article30 Nov 2016 European Journal of Human Genetics
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders
- Kate Wolfe
- André Strydom
- Nick Bass
ArticleOpen Access21 Sep 2016 European Journal of Human Genetics
Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study
- Ilja M Nolte
- Peter J van der Most
- Harold Snieder
Article12 Apr 2017 European Journal of Human Genetics
Personal utility in genomic testing: a systematic literature review
- Jennefer N Kohler
- Erin Turbitt
- Barbara B Biesecker
Review15 Mar 2017 European Journal of Human Genetics
Paternity testing under the cloak of recreational genetics
- Nathalie Moray
- Katherina E Pink
- Maarten HD Larmuseau
Short Report8 Mar 2017 European Journal of Human Genetics
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia
- Angela T. Morgan
- Leenke van Haaften
- David A. Koolen
Article11 Dec 2017 European Journal of Human Genetics
‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
- Hanns Lochmüller
- Yann Le Cam
- on behalf of the IRDiRC Scientific Committees
PolicyOpen Access26 Oct 2016 European Journal of Human Genetics
Third party interpretation of raw genetic data: an ethical exploration
- Lauren Badalato
- Louiza Kalokairinou
- Pascal Borry
Review23 Aug 2017 European Journal of Human Genetics
Using a genetic test result in the care of family members: how does the duty of confidentiality apply?
- Michael Parker
- Anneke Lucassen
ArticleOpen Access27 Apr 2018 European Journal of Human Genetics
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis
- Philip Farrell
- Claude Férec
- Emmanuelle Génin
Article8 Aug 2018 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
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
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
Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users
- Shachar Zuckerman
- David A Zeevi
- Gheona Altarescu
Article26 Jul 2017 European Journal of Human Genetics
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

The best of the European Journal of Human Genetics 2017 - 2018

Content

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Genetics of the peloponnesean populations and the theory of extinction of the medieval peloponnesean Greeks

Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases

1 in 38 individuals at risk of a dominant medically actionable disease

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

Advantages of expanded universal carrier screening: what is at stake?

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere’s disease

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project

Prevalence of congenital amusia

Recontacting in clinical genetics and genomic medicine? We need to talk about it

tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

Association analysis of dyslexia candidate genes in a Dutch longitudinal sample

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders

Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study

Personal utility in genomic testing: a systematic literature review

Paternity testing under the cloak of recreational genetics

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

‘IRDiRC Recognized Resources’: a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases

Third party interpretation of raw genetic data: an ethical exploration

Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis

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

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

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

Acceptable applications of preimplantation genetic diagnosis (PGD) among Israeli PGD users

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

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