Volume 20 Issue 2, February 2018

On the cover | Rachel Howard

“Ethnic Diversity in Genomic Research”

This cover was created to represent the significance of ethnic diversity in genomic research. I used a variety of colors, shapes, silhouettes, and geographical components to represent the beauty of diversity and importance of inclusion in biomedical research.

In This Issue

In This Issue

In This Issue 22 Feb 2018

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News Briefs

News Briefs

News Briefs 22 Feb 2018

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ACMG Statement

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Lynn W Bush
Anita E Beck
Heidi L Rehm

Collection:

ACMG Statements and Guidelines
ACMG Statement 11 Jan 2018

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Original Research Article

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Mehdi Zarrei
Darcy L Fehlings
Stephen W Scherer
Original Research Article Open Access 03 Aug 2017
Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment

Megan A Lewis
Alex Stine
Donald B Bailey Jr
Original Research Article 03 Aug 2017
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Smail Hadj-Rabia
Gaelle Brideau
Hatem El-Shanti
Original Research Article 03 Aug 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil
Sarah Naessens
Elfride De Baere

Focus:

Focus on Ophthalmology
Original Research Article Open Access 27 Jul 2017
Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Anne Skakkebæk
Philip J Moore
Claus H Gravholt
Original Research Article 20 Jul 2017
Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Ian G Phelps
Jennifer C Dempsey
Ruxandra Bachmann-Gagescu
Original Research Article 03 Aug 2017
Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

Jennifer L Caswell-Jin
Tanya Gupta
Allison W Kurian
Original Research Article 27 Jul 2017
The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

Cornelis Blauwendraat
Carlo Wilke
Matthis Synofzik
Original Research Article Open Access 27 Jul 2017
Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

Walid Abi Habib
Frédéric Brioude
Irène Netchine
Original Research Article Open Access 10 Aug 2017
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Julien H Park
Max Hogrebe
Thorsten Marquardt
Original Research Article 27 Jul 2017
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Kevin Yauy
Frederic Tran Mau-Them
David Genevieve
Original Research Article 03 Aug 2017

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Brief Report

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

Brief Report Open Access 02 Oct 2017

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Corrigendum

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

Shan Yang
Stephen E Lincoln
Scott Topper
Corrigendum 07 Dec 2017

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Erratum

Erratum: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Erin T Strovel
Tina M Cowan
Barry Wolf
Erratum 14 Dec 2017

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Volume 20 Issue 2, February 2018

In This Issue

In This Issue

News Briefs

News Briefs

ACMG Statement

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of the American College of Medical Genetics and Genomics (ACMG)

Original Research Article

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Quality of life in men with Klinefelter syndrome: the impact of genotype, health, socioeconomics, and sexual function

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk

The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation

Brief Report

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

Corrigendum

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

Erratum

Erratum: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

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