Focus 18 February 2016

Top Papers from 2014 and 2015

European Journal of Human Genetics is proud to publish a wide variety of articles in the blossoming field of human genetics and genomics. In this web focus we highlight the best cited articles published in 2014 and 2015, ten from each year. As you can now read for yourself, our readers are interested in a broad and interesting mix of scientific, service and societal issues, whilst also population genetics, biobanking and methods improvement can get you well-cited in EJHG.

Content

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
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32
- Jasmin Beygo
- Miriam Elbracht
- Thomas Eggermann
Article7 May 2014 European Journal of Human Genetics
The phylogenetic and geographic structure of Y-chromosome haplogroup R1a
- Peter A Underhill
- G David Poznik
- Richard Villems
Article26 Mar 2014 European Journal of Human Genetics
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
- Baran Bayindir
- Luc Dehaspe
- Joris R Vermeesch
Article14 Jan 2015 European Journal of Human Genetics
GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
- Gabriella Livide
- Tommaso Patriarchi
- Ilaria Meloni
Article11 Jun 2014 European Journal of Human Genetics
Phenome-wide association studies (PheWASs) for functional variants
- Zhan Ye
- John Mayer
- Scott J Hebbring
Article30 Jul 2014 European Journal of Human Genetics
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants
- Beatriz Paumard-Hernández
- Julia Berges-Soria
- Karen E Heath
Article1 Oct 2014 European Journal of Human Genetics
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs
- Giorgio Pistis
- Eleonora Porcu
- Serena Sanna
Article8 Oct 2014 European Journal of Human Genetics
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
- Joanne Traeger-Synodinos
- Cornelis L Harteveld
- on behalf of contributors to the EMQN haemoglobinopathies best practice meeting
PolicyOpen Access23 Jul 2014 European Journal of Human Genetics
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
- Bernt Popp
- Svein I Støve
- André Reis
ArticleOpen Access6 Aug 2014 European Journal of Human Genetics
The phenotype of congenital insensitivity to pain due to the Na_V1.9 variant p.L811P
- Christopher Geoffrey Woods
- Mohamed Osman Eltahir Babiker
- Ingo Kurth
Letter13 Aug 2014 European Journal of Human Genetics
International Charter of principles for sharing bio-specimens and data
- Deborah Mascalzoni
- Edward S Dove
- Mats Hansson
PolicyOpen Access24 Sep 2014 European Journal of Human Genetics
The Genome of the Netherlands: design, and project goals
- Dorret I Boomsma
- Cisca Wijmenga
- Cornelia M van Duijn
ArticleOpen Access29 May 2013 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
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
- Laurent Castéra
- Sophie Krieger
- Dominique Vaur
Article19 Feb 2014 European Journal of Human Genetics
Shining a light on CNTNAP2: complex functions to complex disorders
- Pedro Rodenas-Cuadrado
- Joses Ho
- Sonja C Vernes
Review29 May 2013 European Journal of Human Genetics
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST
- Maria A Pantaleo
- Annalisa Astolfi
- on behalf of GIST Study Group
Article24 Apr 2013 European Journal of Human Genetics
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
- Joanna Wiszniewska
- Weimin Bi
- Ankita Patel
ArticleOpen Access22 May 2013 European Journal of Human Genetics
Return of whole-genome sequencing results in paediatric research: a statement of the P³G international paediatrics platform
- Bartha Maria Knoppers
- Denise Avard
- Ma'n H Zawati along with the P3G International Paediatrics Platform members
Viewpoint7 Aug 2013 European Journal of Human Genetics
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies
- Tim Beck
- Robert K Hastings
- Anthony J Brookes
Short ReportOpen Access4 Dec 2013 European Journal of Human Genetics
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
- Patrick Deelen
- Androniki Menelaou
- Morris A Swertz
ArticleOpen Access4 Jun 2014 European Journal of Human Genetics
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
- James A Poulter
- Walid El-Sayed
- Alan J Mighell
Short ReportOpen Access1 May 2013 European Journal of Human Genetics
Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model
- Julien Tarabeux
- Bruno Zeitouni
- Claude Houdayer
Article14 Aug 2013 European Journal of Human Genetics
Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
- Jessica Becker
- Darina Czamara
- Johannes Schumacher
Article11 Sep 2013 European Journal of Human Genetics

Top Papers from 2014 and 2015

Content

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

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32

The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Phenome-wide association studies (PheWASs) for functional variants

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

The phenotype of congenital insensitivity to pain due to the Na_V1.9 variant p.L811P

International Charter of principles for sharing bio-specimens and data

The Genome of the Netherlands: design, and project goals

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

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

Shining a light on CNTNAP2: complex functions to complex disorders

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

Return of whole-genome sequencing results in paediatric research: a statement of the P³G international paediatrics platform

GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies

Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

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