Volume 18 Issue 6, June 2016

On the cover | Lew Graham

“Palimpsest”

Palimpsest. “This piece addresses my goal in encaustic painting. A palimpsest in modern parlance is something having several layers, with the lower layers still visible. The medium of encaustic uses translucent layers and can present great depth. I want to provide an experience of depth that goes beyond the surface of daily life.” More of the artist’s work can be seen at http://www.lewgrahamartist.

In This Issue

In This Issue

In This Issue 15 Jun 2016

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Systematic Review

Multigene panels in prostate cancer risk assessment: a systematic review

Julian Little
Brenda Wilson
Parminder Raina
Systematic Review 01 Oct 2015
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Ahmad N. Abou Tayoun
Saeed H. Al Turki
Sami S. Amr
Systematic Review 12 Nov 2015

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Original Research Article

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Nisha Patel
Mohammed A. Aldahmesh
Fowzan S. Alkuraya
Original Research Article 10 Sept 2015
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

Jun-Seok Bae
Nayoung K. D. Kim
Tae-Joon Cho
Original Research Article 24 Sept 2015
Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

S. Bellur
M. Jain
S. C. Nagamani
Original Research Article 01 Oct 2015
Participant use and communication of findings from exome sequencing: a mixed-methods study

Katie L. Lewis
Gillian W. Hooker
Barbara B. Biesecker
Original Research Article 05 Nov 2015
Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

Holly Etchegary
Glenn Enright
Kathy Hodgkinson
Original Research Article 29 Oct 2015
The promise and peril of genomic screening in the general population

Michael C. Adams
James P. Evans
Jonathan S. Berg

Nature Outlook:

Precision medicine
Original Research Article 05 Nov 2015
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Daliya Kancheva
Derek Atkinson
Albena Jordanova
Original Research Article 22 Oct 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

William P. Bone
Nicole L. Washington
Damian Smedley
Original Research Article Open Access 12 Nov 2015
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data

Daniel F. Wallace
V. Nathan Subramaniam

Focus:

Focus on Gastrointestinal Diseases
Original Research Article 03 Dec 2015
Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation

Sylvie Pelletier
Nora Wong
Michel Dorval
Original Research Article 05 Nov 2015

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ACMG Standards and Guidelines

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

Fady M. Mikhail
Nyla A. Heerema
Linda D. Cooley

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 28 Apr 2016
Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities

Linda D. Cooley
Cynthia C. Morton
Fady M. Mikhail

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 28 Apr 2016

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Erratum

Erratum: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Erratum 15 Jun 2016

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Corrigendum

Correction: Corrigendum: Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology

Corrigendum 15 Jun 2016

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Volume 18 Issue 6, June 2016

In This Issue

In This Issue

Systematic Review

Multigene panels in prostate cancer risk assessment: a systematic review

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation

Original Research Article

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Participant use and communication of findings from exome sequencing: a mixed-methods study

Perceived economic burden associated with an inherited cardiac condition: a qualitative inquiry with families affected by arrhythmogenic right ventricular cardiomyopathy

The promise and peril of genomic screening in the general population

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data

Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation

ACMG Standards and Guidelines

Section E6.1–6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow–acquired chromosomal abnormalities

Section E6.5–6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor–acquired chromosomal abnormalities

Erratum

Erratum: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis

Corrigendum

Correction: Corrigendum: Generating and evaluating evidence of the clinical utility of molecular diagnostic tests in oncology

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