Volume 18 Issue 1, January 2016

On the cover | Nancy Tuttle May

“Dance Series”

“Dance Series, mixed media and acrylic, was done in response to the American Dance Festival, located in Durham, North Carolina. The shapes create movement and the shadows create depth. This painting is now in an exhibition in the Alizarin Gallery in downtown Durham, North Carolina.” More of the artist’s work can be seen at http://www.nancytuttlemay.com.

In This Issue

In this Issue

In This Issue 12 Jan 2016

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News Briefs

News Briefs

News Briefs 12 Jan 2016

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Review

Brugada syndrome: clinical and genetic findings

Georgia Sarquella-Brugada
Oscar Campuzano
Ramon Brugada
Review 23 Apr 2015
PMS2 monoallelic mutation carriers: the known unknown

McKinsey L. Goodenberger
Brittany C. Thomas
Noralane M. Lindor

Focus:

Focus on Gastrointestinal Diseases
Review 09 Apr 2015

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Original Research Article

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

Melanie G. Pepin
Mitzi L. Murray
Peter H. Byers
Original Research Article 02 Apr 2015
Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Angela R. Bradbury
Linda J. Patrick-Miller
Susan M. Domchek
Original Research Article 02 Apr 2015
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

Margaret M. McGovern
Melissa P. Wasserstein
Gerald F. Cox
Original Research Article Open Access 02 Apr 2015
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Christopher A. Wassif
Joanna L. Cross
Forbes D. Porter
Original Research Article 12 Mar 2015
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent
David Geneviève
Corinne Collet
Original Research Article 19 Mar 2015
Interactive multimedia consent for biobanking: a randomized trial

Christian M. Simon
David W. Klein
Helen A. Schartz
Original Research Article 02 Apr 2015
Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing

Deanna Alexis Carere
Peter Kraft
Robert C. Green
Original Research Article 26 Mar 2015
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Joseph Muenzer
Christian J. Hendriksz
Ann J. Barbier
Original Research Article Open Access 02 Apr 2015
Family decision maker perspectives on the return of genetic results in biobanking research

Laura A. Siminoff
Heather M. Traino
Anita Undale
Original Research Article 09 Apr 2015
Risk of new tumors in von Hippel–Lindau patients depends on age and genotype

Marie Louise Mølgaard Binderup
Esben Budtz-Jørgensen
Marie Luise Bisgaard
Original Research Article 02 Apr 2015

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Brief Report

Difficulties in diagnosing Marfan syndrome using current FBN1 databases

Kristian A. Groth
Mette Gaustadnes
Niels H. Andersen
Brief Report 26 Mar 2015

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Letter to the Editor

Economic evaluation of whole-genome sequencing in healthy individuals: what can we learn from CEAs of whole-body CT screening?

Christine Y. Lu
Letter to the Editor 03 Dec 2015

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Reviewers

Reviewer Acknowledgment 2015

Reviewers 12 Jan 2016

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Addendum

ADDENDUM: Laboratory guideline for Turner syndrome

Addendum 12 Jan 2016
ADDENDUM: Technical standards and guidelines for myotonic dystrophy type 1 testing

Addendum 12 Jan 2016

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Erratum

Erratum: 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

Erratum 12 Jan 2016

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Corrigendum

Correction: Corrigendum: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

Corrigendum 12 Jan 2016

Top of page ⤴

Volume 18 Issue 1, January 2016

In This Issue

In this Issue

News Briefs

News Briefs

Review

Brugada syndrome: clinical and genetic findings

PMS2 monoallelic mutation carriers: the known unknown

Original Research Article

The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency)

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Interactive multimedia consent for biobanking: a randomized trial

Consumers report lower confidence in their genetics knowledge following direct-to-consumer personal genomic testing

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Family decision maker perspectives on the return of genetic results in biobanking research

Risk of new tumors in von Hippel–Lindau patients depends on age and genotype

Brief Report

Difficulties in diagnosing Marfan syndrome using current FBN1 databases

Letter to the Editor

Economic evaluation of whole-genome sequencing in healthy individuals: what can we learn from CEAs of whole-body CT screening?

Reviewers

Reviewer Acknowledgment 2015

Addendum

ADDENDUM: Laboratory guideline for Turner syndrome

ADDENDUM: Technical standards and guidelines for myotonic dystrophy type 1 testing

Erratum

Erratum: 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

Corrigendum

Correction: Corrigendum: The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers

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