Table of Contents page: Genetics in Medicine

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In This Issue

Amanda Grennell

Published in issue: February 2020

p243

Open Archive

News

Amanda Grennell

Published in issue: February 2020

p244

Open Archive

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,
Athena M. Cherry,
...
Daniel Pineda-Alvarez,
Swaroop Aradhya,
Christa Lese Martin

Published in issue: February 2020

p245-257

Open Archive

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

Sharon J.M. Kessels,
Drew Carter,
Benjamin Ellery,
Skye Newton,
Tracy L. Merlin

Published in issue: February 2020

p258-267

Open Archive

Review Article

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

Jan Verheijen,
Shawn Tahata,
Tamas Kozicz,
Peter Witters,
Eva Morava

Published in issue: February 2020

p268-279

Open Archive

Invited Comment

Exome sequencing: value is in the eye of the beholder

Scott D. Grosse,
Sonja A. Rasmussen

Published in issue: February 2020

p280-282

Open Archive

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,
Anne Slavotinek,
Mary E. Norton,
Michael P. Douglas,
Kathryn A. Phillips

Published in issue: February 2020

p283-291

Open Archive

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

Nick Dragojlovic,
Clara D.M. van Karnebeek,
Aisha Ghani,
...
Alison M. Elliott,
Jan M. Friedman,
Larry D. Lynd

Published in issue: February 2020

p292-300

Open Archive

$Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening$

Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening

Minghao Dang,
Hanli Xu,
Jingbo Zhang,
...
Qixi Wu,
Shaowei Wang,
Yongtao Guan

Published in issue: February 2020

p301-308

Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA

Francesca Romana Grati,
Jose Ferreira,
Peter Benn,
...
Daniela Surico,
Tullio Ghi,
Federico Prefumo

Published in issue: February 2020

p309-316

Open Archive

Detection of iron deficiency in children with Down syndrome

Sarah J. Hart,
Kanecia Zimmerman,
Corinne M. Linardic,
...
Kishore Vellody,
Gordon Worley,
Priya S. Kishnani

Published in issue: February 2020

p317-325

Open Archive

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,
Beata Nowakowska,
...
Elaine H. Zackai,
Joris R. Vermeesch,
Donna McDonald-McGinn

Published in issue: February 2020

p326-335

Open Archive

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants

Tracy Brandt,
Laura M. Sack,
Dolores Arjona,
...
Amy Lai,
Gabriele Richard,
Jeanne M. Meck

Published in issue: February 2020

p336-344

Open Archive

Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants

Kristin Kostick,
Stacey Pereira,
Cody Brannan,
Laura Torgerson,
Gabriel Lázaro-Muñoz

Published in issue: February 2020

p345-352

Creating genetic reports that are understood by nonspecialists: a case study

Gabriel Recchia,
Antonia Chiappi,
Gemma Chandratillake,
Lucy Raymond,
Alexandra L.J. Freeman

Published in issue: February 2020

p353-361

AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature

Johannes Birgmeier,
Cole A. Deisseroth,
Laura E. Hayward,
...
Jonathan A. Bernstein,
Maximilian Haeussler,
Gill Bejerano

Published in issue: February 2020

p362-370

Open Archive

The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system

Kenneth D. Mandl,
Tracy Glauser,
Ian D. Krantz,
...
Andrew Wooten,
Alan Yen,
Yu Zhang

Published in issue: February 2020

p371-380

Regional models of genetic services in the United States

Celia Kaye,
Joann Bodurtha,
Mathew Edick,
...
Robert Ostrander,
Matthew Taylor
The National Coordinating Center for the Regional Genetic Service Collaboratives Regional Support Service Model Workgroup and Advisory Committee

Published in issue: February 2020

p381-388