Volume 20 Issue 4, April 2018

On the cover | Rachel Howard

This cover was created to represent the vast diversity of mitochondrial DNA. A variety of colors, shapes, and sizes were used to symbolize the complexity and variance observed within mitochondrial genetics. Although genetics testing can aid clinicians and researchers, this diversity can lead to challenges in diagnosing mitochondrial syndromes.

In This Issue

In This Issue

In This Issue 10 Apr 2018

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News Briefs

News Briefs

News Briefs 10 Apr 2018

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Review

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

Scott D Grosse
Lyle C Gurrin
Katrina J Allen
Review 03 Aug 2017
A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system

Christine Y Lu
Marc S Williams
Muin J Khoury
Review 10 Aug 2017

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Commentary

Precision medicine, health disparities, and ethics: the case for disability inclusion

Maya Sabatello
Commentary 03 Aug 2017

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Invited Commentary

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Anne-Marie Laberge

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Gastrointestinal Diseases
Invited Commentary 19 Oct 2017

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Original Research Article

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Mary Beth Stosser
Amanda S Lindy
Dianalee A McKnight
Original Research Article Open Access 24 Aug 2017
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

Rachel B Keller
Thao T Tran
Peter H Byers
Original Research Article 17 Aug 2017
Molecular autopsy in maternal–fetal medicine

Hanan E Shamseldin
Wesam Kurdi
Fowzan S Alkuraya
Original Research Article 20 Jul 2017
Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014

Zhuo Chen
Katherine Kolor
Muin J Khoury
Original Research Article 21 Sept 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C Lionel
Gregory Costain
Christian R Marshall
Original Research Article Open Access 03 Aug 2017
Revisiting mitochondrial diagnostic criteria in the new era of genomics

Peter Witters
Ann Saada
Eva Morava
Original Research Article 26 Oct 2017

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Brief Report

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Irene Catucci
Ana Osorio
Paolo Peterlongo
Brief Report 24 Aug 2017
Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

Massimo Bogliolo
Dominique Bluteau
Jordi Surrallés
Brief Report 24 Aug 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Brief Report 14 Sept 2017
Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Aamina Shakir
Michael Ripperger
Klaas J Wierenga
Brief Report 24 Aug 2017

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Corrigendum

Correction: Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

Matthias Zielonka
Sven F Garbade
Markus Ries
Corrigendum 28 Sept 2017

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Volume 20 Issue 4, April 2018

In This Issue

In This Issue

News Briefs

News Briefs

Review

Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes

A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system

Commentary

Precision medicine, health disparities, and ethics: the case for disability inclusion

Invited Commentary

Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Original Research Article

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

Molecular autopsy in maternal–fetal medicine

Trends in utilization and costs of BRCA testing among women aged 18–64 years in the United States, 2003–2014

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Brief Report

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Inferred inheritance of MorbidMap genes without OMIM clinical synopsis

Corrigendum

Correction: Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis

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