Volume 21 Issue 5, May 2019

In this Issue

In This Issue

Raye Alford
In This Issue 02 May 2019
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News

News

Raye Alford
News 02 May 2019

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Review Article

Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies

Mahsa Shabani
Stephanie O. M. Dyke
Pascal Borry

Collection:

Ethical, Legal, and Social Issues
Review Article 08 Oct 2018

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Comment

Lessons from the premature adoption of preimplantation embryo testing

Shizuko Takahashi
Josephine Johnston
Pasquale Patrizio

Focus:

Focus on Obstetrics and Gynecology
Comment 28 Sept 2018

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Article

Clinical utility of expanded carrier screening: results-guided actionability and outcomes

Katherine A. Johansen Taber
Kyle A. Beauchamp
James D. Goldberg
Article Open Access 11 Oct 2018
Direct health-care costs for children diagnosed with genetic diseases are significantly higher than for children with other chronic diseases

Deborah A. Marshall
Eric I. Benchimol
Kym M. Boycott
Article 24 Sept 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Bettina E. Mucha
Siddharth Banka
Philippe M. Campeau

Focus:

Focus on Neurology
Article 24 Sept 2018
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

Elizabeth Quinlan-Jones
Jenny Lord
Mark D. Kilby

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 08 Oct 2018
Putting genome-wide sequencing in neonates into perspective

Pleuntje J. van der Sluijs
Emmelien Aten
Gijs W. E. Santen
Article 05 Oct 2018
Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

Saskia C. Sanderson
Celine Lewis
Lyn S. Chitty
Article Open Access 01 Oct 2018
Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Myra I. Roche
Ida Griesemer
Christine Rini
Article 21 Sept 2018
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

M. Ragan Hart
Barbara B. Biesecker
Lucia A. Hindorff
Article 05 Oct 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease

Dimuthu Alankarage
Eddie Ip
Sally L. Dunwoodie

Focus:

Focus on Vascular Surgery and Cardiology
Article 08 Oct 2018
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Andrew M. Gross
Subramanian S. Ajay
Ryan J. Taft
Article Open Access 08 Oct 2018
Sharing data for future research—engaging participants’ views about data governance beyond the original project: a DIRECT Study

Nisha Shah
Victoria Coathup
Jane Kaye

Collection:

Ethical, Legal, and Social Issues
Article 28 Sept 2018
A logic model for precision medicine implementation informed by stakeholder views and implementation science

Catherine Chanfreau-Coffinier
Jane Peredo
Maren T. Scheuner
Article 23 Oct 2018
The global prevalence of Wilson disease from next-generation sequencing data

Jiali Gao
Simon Brackley
Jake P. Mann

Collections:

Focus on Gastrointestinal Diseases

Focus on Neurology
Article 26 Sept 2018
Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

Sateesh Maddirevula
Hamoud Alhebbi
Fowzan S. Alkuraya

Focus:

Focus on Gastrointestinal Diseases
Article 25 Sept 2018
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

Maris Alver
Marili Palover
Tõnu Esko

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 01 Oct 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?

Peter Witters
Tomas Honzik
Eva Morava
Article 08 Oct 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

Victoria E. R. Parker
Kim M. Keppler-Noreuil
Leslie G. Biesecker
Article Open Access 01 Oct 2018
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen
Hanne Valgaeren
Hans van Bokhoven
Article 05 Oct 2018
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

Yue-Qiu Tan
Chaofeng Tu
Ge Lin
Article 24 Aug 2017
The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis

Megan C Roberts
Mindy Clyne
Muin J Khoury
Article 26 Oct 2017
Preemptive pharmacogenetic testing: exploring the knowledge and perspectives of US payers

Nicholas J Keeling
Meagen M Rosenthal
James M Hoffman
Article 26 Oct 2017

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Brief Communication

Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen

Lauren A. Barber
Craig Abbott
Joan C. Marini
Brief Communication 01 Oct 2018
Pitfalls of clinical exome and gene panel testing: alternative transcripts

Dale L. Bodian
Prachi Kothiyal
Natalie S. Hauser
Brief Communication 08 Oct 2018

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Correspondence

Functional analysis of DES-p.L398P and RBM20-p.R636C

Andreas Brodehl
Hans Ebbinghaus
Hendrik Milting
Correspondence 28 Sept 2018
Response to Brodehl et al.

Andre E. Minoche
Claire Horvat
Diane Fatkin
Correspondence 28 Sept 2018
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine

Edward D. Esplin
Eden Haverfield
Robert L. Nussbaum
Correspondence 24 Sept 2018
Response to Esplin et al.

Leslie G. Biesecker
Correspondence 04 Oct 2018
Growth hormone excess in neurofibromatosis 1

Fady Hannah-Shmouni
Constantine A. Stratakis
Correspondence 04 Oct 2018
Response to Hannah-Shmouni and Stratakis

Douglas R. Stewart
Bruce R. Korf
Kaleb Yohay
Correspondence 04 Oct 2018
Carrier screening “within the panel”

Graeme Suthers
Kym Mina
Correspondence 16 Oct 2018
Response to Suthers and Mina

Edwin P. Kirk
Kristine Barlow-Stewart
Tony Roscioli
Correspondence 16 Oct 2018
Medical genetics and genomics education and its impact on genomic literacy of the clinical workforce

Katherine Hyland
Shoumita Dasgupta
Correspondence 14 Sept 2017

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Correction

Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

M. Ragan Hart
Barbara B. Biesecker
Lucia A. Hindorff
Correction 22 Jan 2019
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Hiroki Maruyama
Kaori Miyata
Satoshi Ishii
Correction 06 Feb 2019
Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

Jipin Das K
Jodie Ingles
Christopher Semsarian
Correction 26 Apr 2018

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Volume 21 Issue 5, May 2019

In this Issue

News

Review Article

Comment

Article

Brief Communication

Correspondence

Correction

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