Volume 20 Issue 1, January 2018

On the cover | Rachel Howard

“Genetics in Public Health”

This cover was created to represent the role of genetics in public health. The variety of colors, shapes, and lines embody the diverse population public health strives to serve. The unity of the globe, DNA strand, and silhouettes are a visual representation of the complex, multifaceted relationship between genetics, medicine, research, and public health.

In This Issue

In This Issue

In This Issue 09 Jan 2018

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News Briefs

News Briefs

News Briefs 09 Jan 2018

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ACMG Standards and Guidelines

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

Marzia Pasquali
Chunli Yu
Bradford Coffee

Collection:

ACMG Statements and Guidelines
ACMG Standards and Guidelines 26 Oct 2017

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Commentary

Happy birthday, Genetics in Medicine!

James P Evans
Commentary 07 Dec 2017

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Original Research Article

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Karin Weiss
Paul Kruszka
Maximilian Muenke
Original Research Article Open Access 22 Jun 2017
Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey

Ann M Manzardo
James Loker
Merlin G Butler
Original Research Article 06 Jul 2017
Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A Strauss
Claudia Gonzaga-Jauregui
Erik G Puffenberger
Original Research Article 20 Jul 2017
A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Cecilia Giunta
Matthias Baumann
Marianne Rohrbach
Original Research Article Open Access 15 Jun 2017
Systematic design and comparison of expanded carrier screening panels

Kyle A Beauchamp
Dale Muzzey
Imran S Haque

Focus:

Focus on Obstetrics and Gynecology
Original Research Article Open Access 22 Jun 2017
GWAS signals revisited using human knockouts

Sateesh Maddirevula
Fatema AlZahrani
Fowzan S Alkuraya
Original Research Article 22 Jun 2017
Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

Carol Ko
Patricia Arscott
Adam S Helms
Original Research Article 22 Jun 2017
Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample

Gesine Richter
Michael Krawczak
Alena Buyx
Original Research Article 22 Jun 2017
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

Devin Oglesbee
Tina M Cowan
Glenn E Palomaki
Original Research Article Open Access 29 Jun 2017
Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Alfonso Hisado-Oliva
Alba Ruzafa-Martin
Karen E Heath
Original Research Article 28 Jun 2017
FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter
Milka Pringsheim
Knut Brockmann
Original Research Article 29 Jun 2017
PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Luc Régal
Emma Mårtensson
John W M Creemers
Original Research Article 20 Jul 2017
Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

Kari G Chaffee
Ann L Oberg
Gloria M Petersen
Original Research Article 20 Jul 2017
When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

Idit Maya
Reuven Sharony
Mordechai Shohat
Original Research Article 20 Jul 2017
A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone

Kurt D Christensen
Wendy R Uhlmann
Robert C Green
Original Research Article 20 Jul 2017
A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Dinel Pond
Florence A Arts
Yoav Messinger
Original Research Article 20 Jul 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Jessica J Y Lee
Wyeth W Wasserman
Nenad Blau
Original Research Article Open Access 20 Jul 2017

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Brief Report

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Jason D Merker
Aaron M Wenger
Euan A Ashley
Brief Report 22 Jun 2017

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Erratum

Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Karin Weiss
Paul Kruszka
Maximilian Muenke
Erratum 09 Jan 2018

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Corrigendum

Correction: Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

Deborah A Marshall
Juan Marcos Gonzalez
Kathryn A Phillips
Corrigendum 26 Oct 2017

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Volume 20 Issue 1, January 2018

In This Issue

In This Issue

News Briefs

News Briefs

ACMG Standards and Guidelines

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

Commentary

Happy birthday, Genetics in Medicine!

Original Research Article

In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Survival trends from the Prader–Willi Syndrome Association (USA) 40-year mortality survey

Genomic diagnostics within a medically underserved population: efficacy and implications

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Systematic design and comparison of expanded carrier screening panels

GWAS signals revisited using human knockouts

Genetic testing impacts the utility of prospective familial screening in hypertrophic cardiomyopathy through identification of a nonfamilial subgroup

Broad consent for health care–embedded biobanking: understanding and reasons to donate in a large patient sample

CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

PREPL deficiency: delineation of the phenotype and development of a functional blood assay

Prevalence of germ-line mutations in cancer genes among pancreatic cancer patients with a positive family history

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Brief Report

Long-read genome sequencing identifies causal structural variation in a Mendelian disease

Erratum

Erratum: In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics

Corrigendum

Correction: Corrigendum: What are people willing to pay for whole-genome sequencing information, and who decides what they receive?

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