Genetics in Medicine

Volume 20 Issue 10, October 2018

This cover reflects the development of medical genetics in the Asia Pacific region, the focus of the review in this month’s issue by MK Theong et al. and a reminder that medical genetics is global in its reach and its potential to help patients and populations.

Volume 20 Issue 10

In this Issue

In this issue

Karyn Hede
In This Issue 26 Oct 2018
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News

News

Karyn Hede
News 26 Oct 2018

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ACMG Practice Resources

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Darrel Waggoner
Karen E. Wain
David T. Miller

Collection:

ACMG Statements and Guidelines
ACMG Practice Resource 18 Jun 2018

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Review Article

Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities

Meow-Keong Thong
Yiling See-Toh
Jaffar Ali

Collections:

ACMG 2019: Welcoming Dr. Robert Steiner to Genetics in Medicine

GIM's 20th Anniversary Reviews Collection

Ethical, Legal, and Social Issues
Review Article 10 Aug 2018

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Systematic Review

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Katharina Schwarze
James Buchanan
Sarah Wordsworth
Systematic Review Open Access 15 Feb 2018
Which Lynch syndrome screening programs could be implemented in the “real world”? A systematic review of economic evaluations

Marco Di Marco
Elvira DAndrea
Paolo Villari

Focus:

Focus on Gastrointestinal Diseases
Systematic Review Open Access 04 Jan 2018
Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review

Lara Petelin
Alison H Trainer
Paul A James

Focus:

Focus on Hematology/Oncology
Systematic Review 11 Jan 2018

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Comment

Making pretest genomic counseling optional: lessons from the RAVE study

Erica J Sutton
Iftikhar J Kullo
Richard R Sharp
Comment 01 Feb 2018

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Article

The contribution of family history to the burden of diagnosed diabetes, undiagnosed diabetes, and prediabetes in the United States: analysis of the National Health and Nutrition Examination Survey, 2009–2014

Ramal Moonesinghe
Gloria L A Beckles
Muin J Khoury

Focus:

Focus on Endocrinology
Article 25 Jan 2018
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

Maegan E Roberts
Sarah A Jackson
Wendy K Chung

Collections:

Focus on Gastrointestinal Diseases

Focus on Hematology/Oncology
Article Open Access 18 Jan 2018
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J Johnston
Jasper J van der Smagt
Leslie G Biesecker
Article 22 Feb 2018
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings

Kurt D Christensen
Barbara A Bernhardt
Katrina A B Goddard
Article 01 Feb 2018
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Pauline Robbe
Niko Popitsch
Anna Schuh
Article Open Access 01 Feb 2018
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Ellen S Regalado
Lauren Mellor-Crummey
Dianna M Milewicz
Article 04 Jan 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Caroline F Wright
Jeremy F McRae
Helen V Firth
Article Open Access 11 Jan 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

Veronika Boczonadi
Martin S King
Rita Horvath

Focus:

Focus on Neurology
Article Open Access 08 Mar 2018
Arterial tortuosity syndrome: 40 new families and literature review

Aude Beyens
Juliette Albuisson
Bert Callewaert

Focus:

Focus on Vascular Surgery and Cardiology
Article 11 Jan 2018
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

Nicola Whiffin
Roddy Walsh
Stuart A Cook

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 25 Jan 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Dominic Lenz
Patricia McClean
Christian Staufner
Article Open Access 08 Feb 2018
Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein

Sheng-Jie Liu
Jiang-Yi Wang
Kan Gong

Focus:

Focus on Hematology/Oncology
Article 29 Mar 2018
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers

Michael F Wangler
Leroy Hubert
Sarah H Elsea
Article 08 Feb 2018
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Si Houn Hahn
David Kronn
Priya S Kishnani
Article Open Access 22 Mar 2018

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Correspondence

Response to Walker

Nicholas J Wald
Wayne J Huttly
Zarko Alfirevic
Correspondence 01 Mar 2018
Response to Wald et al

Clare-Louise Walker
Correspondence 11 Jan 2018

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Correction

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Kristin McDonald Gibson
Addie Nesbitt
Avni Santani
Correction 11 Jan 2018
Correction: Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Daniel D Buchanan
Jenna R Stewart
Aung Ko Win
Correction 01 Feb 2018

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