Genetics in Medicine

Volume 22 Issue 2, February 2020

Adriana confronts painting like meditation; only the physicality of the painting materials and sentiment experienced within an instant in time and space command her art-making process. This painting, from her “Of Maps, Cells and Islands” series, is a subtle commentary on the climate crisis. More of the artist’s work can be seen at http://www.agprat.com.

Map of the End of the World | Adriana G. Prat

Volume 22 Issue 2

In this Issue

In This Issue

Amanda Grennell
In This Issue 04 Feb 2020
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News

News

Amanda Grennell
News 04 Feb 2020

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ACMG Technical Standards

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs
Erica F. Andersen
Christa Lese Martin

Collections:

ACMG Statements and Guidelines

Focus on Genomic Variant Interpretation
ACMG Technical Standard 06 Nov 2019

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Systematic Review

Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review

Sharon J. M. Kessels
Drew Carter
Tracy L. Merlin

Collections:

Focus on Gastrointestinal Diseases

Focus on Obstetrics and Gynecology
Systematic Review 30 Aug 2019

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Review Article

Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update

Jan Verheijen
Shawn Tahata
Eva Morava

Collections:

Focus on Neurology

Focus on Pediatrics
Review Article 19 Sept 2019

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Invited Comment

Exome sequencing: value is in the eye of the beholder

Scott D. Grosse
Sonja A. Rasmussen
Invited Comment 14 Oct 2019

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Article

Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS)

Julia R. Trosman
Christine B. Weldon
Kathryn A. Phillips

Collections:

Focus on Obstetrics and Gynecology

Focus on Pediatrics
Article 10 Sept 2019
The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Nick Dragojlovic
Clara D. M. van Karnebeek
Larry D. Lynd

Collections:

Focus on Public Health

Focus on Pediatrics
Article 29 Aug 2019
Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening

Minghao Dang
Hanli Xu
Yongtao Guan

Focus:

Focus on Obstetrics and Gynecology
Article Open Access 30 Aug 2019
Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

Francesca Romana Grati
Jose Ferreira
Federico Prefumo

Focus:

Focus on Obstetrics and Gynecology
Article 08 Aug 2019
Detection of iron deficiency in children with Down syndrome

Sarah J. Hart
Kanecia Zimmerman
Priya S. Kishnani

Collections:

Focus on Neurology

Focus on Pediatrics
Article 16 Aug 2019
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

Marta Unolt
Molka Kammoun
Donna McDonald-McGinn

Collections:

Focus on Neurology

Focus on Pediatrics
Article 02 Sept 2019
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Tracy Brandt
Laura M. Sack
Jeanne M. Meck
Article 19 Sept 2019
Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants

Kristin Kostick
Stacey Pereira
Gabriel Lázaro-Muñoz

Collections:

Ethical, Legal, and Social Issues

Focus on Neurology
Article Open Access 03 Sept 2019
Creating genetic reports that are understood by nonspecialists: a case study

Gabriel Recchia
Antonia Chiappi
Alexandra L. J. Freeman

Focus:

Focus on Public Health
Article Open Access 11 Sept 2019
AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

Johannes Birgmeier
Cole A. Deisseroth
Gill Bejerano
Article 30 Aug 2019
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Kenneth D. Mandl
Tracy Glauser
Yu Zhang

Focus:

Focus on Public Health
Article Open Access 04 Sept 2019
Regional models of genetic services in the United States

Celia Kaye
Joann Bodurtha
Matthew Taylor

Focus:

Focus on Public Health
Article Open Access 06 Sept 2019
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan

Collections:

Focus on Neurology

Focus on Pediatrics
Article 07 Aug 2019
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

D. Gareth R. Evans
Roope A. Kallionpää
Juha Peltonen

Collections:

Focus on Neurology

Focus on Hematology/Oncology
Article Open Access 09 Sept 2019
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

Holly LaDuca
Eric C. Polley
Jill S. Dolinsky

Focus:

Focus on Hematology/Oncology
Article Open Access 13 Aug 2019
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve

Courtney Berrios
Catherine Koertje
John Lantos

Collections:

Ethical, Legal, and Social Issues

Focus on Neurology

Focus on Pediatrics
Article 30 Aug 2019

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Brief Communication

Clinical utility of exome sequencing in infantile heart failure

Alyssa Ritter
Emma Bedoukian
Rebecca C. Ahrens-Nicklas

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Pediatrics
Brief Communication 17 Sept 2019
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Amélie Pinard
Stéphanie Guey
Dianna M. Milewicz

Focus:

Focus on Neurology
Brief Communication 02 Sept 2019
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

Lina Sobhi Abdrabo
David Watkins
David S. Rosenblatt

Collections:

Focus on Neurology

Focus on Pediatrics
Brief Communication 29 Aug 2019

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Correspondence

Heme as an initial treatment for severe decompensation in tyrosinemia type 1

Rochus A. Neeleman
J. H. Paul Wilson
Janneke G. Langendonk
Correspondence 01 Oct 2019
Response to Neeleman et al.

Jeffrey M. Chinsky
Can Ficicioglu
C. Ronald Scott
Correspondence 01 Oct 2019
One step forward, two steps backward

Israel Gomy
Judy E. Garber
Correspondence 03 Oct 2019
Response to Gomy and Garber

Correspondence 03 Oct 2019
Response to Toutain et al.

Peter Benn
Jose Ferreira
Francesca Romana Grati
Correspondence 01 Oct 2019
Type 3 confined placental mosaicisms excluding trisomies 16 are also associated with adverse pregnancy outcomes

Jérôme Toutain
Jacques Horovitz
Robert Saura
Correspondence 01 Oct 2019

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Correction

Correction: Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

Roy N. Alcalay
Caitlin Kehoe
Martha Nance
Correction Open Access 27 Nov 2019
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Kenneth D. Mandl
Tracy Glauser
Yu Zhang
Correction Open Access 27 Nov 2019
Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening

Minghao Dang
Hanli Xu
Yongtao Guan
Correction Open Access 11 Dec 2019

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