Collection 23 September 2019

ASHG 2019 Annual Meeting

The American Society of Human Genetics annual conference is upon us, 15^th - 19^th October 2019, and will focus on all aspects of human genetics, particularly topics that integrate multiple basic science and clinical aspects of human genetic disease. The Editor-in-Chief of EJHG in the spirit of this important event is pleased to showcase the work of many in this field as they align with the critical themes of this exciting congress.

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
Prevalence of congenital amusia
- Isabelle Peretz
- Dominique T Vuvan
Article22 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
Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel
- Mario Mitt
- Mart Kals
- Priit Palta
ArticleOpen Access12 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
The Y chromosome: a blueprint for men’s health?
- Akhlaq A Maan
- James Eales
- Maciej Tomaszewski
ReviewOpen Access30 Aug 2017 European Journal of Human Genetics
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
- Angélique Quartier
- Hélène Poquet
- Amélie Piton
Article8 Feb 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
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
Circulating cell-free nucleic acids: characteristics and applications
- Ondrej Pös
- Orsolya Biró
- Bálint Nagy
Review Article23 Apr 2018 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
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
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
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
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
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
- Melodie Aubart
- Steven Gazal
- Catherine Boileau
Article7 Aug 2018 European Journal of Human Genetics
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis
- Terry Vrijenhoek
- Eline M. Middelburg
- Gerardus W. J. Frederix
Article29 Jun 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
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome
- Andrew R. Mitz
- Travis J. Philyaw
- Audrey Thurm
Review ArticleOpen Access22 Jan 2018 European Journal of Human Genetics
Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)
- Erika K. S. M. Leenders
- Harm Westdorp
- Marjolijn C. J. Jongmans
Review Article14 Jun 2018 European Journal of Human Genetics
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion
- Cristina Mei
- Evelina Fedorenko
- Angela T. Morgan
Article14 Feb 2018 European Journal of Human Genetics
Genetic variant in CACNA1C is associated with PTSD in traumatized police officers
- Izabela M. Krzyzewska
- Judith B. M. Ensink
- Peter Henneman
ArticleOpen Access23 Jan 2018 European Journal of Human Genetics
Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci
- Yu Zhang
- Lifeng Tian
- On behalf of the International IBD Genetics Consortium
Article4 Dec 2017 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
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
Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1
- Michael Hubberten
- Gregor Bochenek
- Arne S. Schaefer
Article14 Aug 2018 European Journal of Human Genetics
Educational delay and attainment in persons with neurofibromatosis 1 in Denmark
- Karoline Doser
- Line Kenborg
- Susanne Oksbjerg Dalton
Article28 Feb 2019 European Journal of Human Genetics
Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals
- Richard Border
- Andrew Smolen
- Luke M. Evans
Article5 Feb 2019 European Journal of Human Genetics
Feasibility of couple-based expanded carrier screening offered by general practitioners
- Juliette Schuurmans
- Erwin Birnie
- Irene M. van Langen
ArticleOpen Access11 Feb 2019 European Journal of Human Genetics
Communication about genetic testing with breast and ovarian cancer patients: a scoping review
- Chris Jacobs
- Christine Patch
- Susan Michie
Review ArticleOpen Access20 Dec 2018 European Journal of Human Genetics
A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees
- Sofie Claerhout
- Michiel Van der Haegen
- Ronny Decorte
Article20 Dec 2018 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
Continental drift? Do European clinical genetic testing laboratories have a patent problem?
- Johnathon Liddicoat
- Kathleen Liddell
- Michael M. Hopkins
ArticleOpen Access7 Mar 2019 European Journal of Human Genetics

ASHG 2019 Annual Meeting

Content

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Prevalence of congenital amusia

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

Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel

Personal utility in genomic testing: a systematic literature review

The Y chromosome: a blueprint for men’s health?

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

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

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

Circulating cell-free nucleic acids: characteristics and applications

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

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

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

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

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

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

The FAIR guiding principles for data stewardship: fair enough?

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome

Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD)

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci

The Global State of the Genetic Counseling Profession

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

Linear isoforms of the long noncoding RNA CDKN2B-AS1 regulate the c-myc-enhancer binding factor RBMS1

Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals

Feasibility of couple-based expanded carrier screening offered by general practitioners

Communication about genetic testing with breast and ovarian cancer patients: a scoping review

A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees

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

Continental drift? Do European clinical genetic testing laboratories have a patent problem?

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