Genetics in Medicine

Volume 22 Issue 3, March 2020

“In her new yellow and orange bathing suit, 8-year-old neighbor Celsianna Rose tumbled in and out of a submerged metallic water tunnel as her father and I positioned electronic lights from the sides of the swimming pool, creating reflections beneath, above, and upon the surface.” More of the artist’s work can be seen at http://www.barbaratyroler.com.

Celsiana’s Emergence | Barbara Tyroler

Volume 22 Issue 3

In this Issue

In This Issue

Amanda Grennell
In This Issue 04 Mar 2020
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News

News

Amanda Grennell
News 04 Mar 2020

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ACMG Technical Standard

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora J. H. Bean
Birgit Funke
Pinar Bayrak-Toydemir

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 16 Nov 2019
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Glenn E. Palomaki
Caleb Bupp
Robert G. Best

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 08 Nov 2019

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Systematic Review

Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases

Ye Zhu
Kristi M. Swanson
Bijan J. Borah

Collections:

Focus on Public Health

Focus on Vascular Surgery and Cardiology
Systematic Review Open Access 08 Oct 2019

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Comment

The case for banning heritable genome editing

Jeffrey R. Botkin

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues

Focus on Obstetrics and Gynecology
Comment 21 Nov 2019

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Article

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee
Alden Y. Huang
Stanley F. Nelson
Article 14 Oct 2019
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

Huilin Wang
Zirui Dong
Kwong Wai Choy

Focus:

Focus on Obstetrics and Gynecology
Article 26 Aug 2019
The genomic and clinical landscape of fetal akinesia

Matthias Pergande
Susanne Motameny
Sebahattin Cirak

Collections:

Focus on Neurology

Focus on Obstetrics and Gynecology

Focus on Pediatrics
Article 04 Nov 2019
Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton
Cyril Mignot
Christel Depienne

Collections:

Focus on Neurology

Focus on Pediatrics
Article 03 Oct 2019
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda M. Mirzaa
Jessica X. Chong
Michael J. Bamshad

Collections:

Focus on Neurology

Focus on Pediatrics
Article 14 Nov 2019
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4

Elodie Sanchez
Béryl Laplace-Builhé
David Geneviève
Article Open Access 24 Oct 2019
The implementation of newborn screening for spinal muscular atrophy: the Australian experience

Didu S. T. Kariyawasam
Jacqueline S. Russell
Michelle A. Farrar

Collections:

Focus on Public Health

Focus on Pediatrics
Article 14 Oct 2019
Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets

Paul J. Azzopardi
Ross E. G. Upshur
Robin Z. Hayeems

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues

Focus on Pediatrics
Article Open Access 10 Oct 2019
Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists

Roy N. Alcalay
Caitlin Kehoe
Martha Nance

Collections:

Ethical, Legal, and Social Issues

Focus on Neurology
Article Open Access 04 Nov 2019
Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta

Chaya N. Murali
David Cuthbertson
Sandesh C. S. Nagamani

Focus:

Focus on Pediatrics
Article 27 Nov 2019
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria

Hetanshi Naik
Jessica R. Overbey
Robert J. Desnick

Collections:

Focus on Neurology

Focus on Hematology/Oncology
Article 06 Nov 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Kathleen A. Williamson
H. Nikki Hall
David R. FitzPatrick

Focus:

Focus on Ophthalmology
Article Open Access 08 Nov 2019
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner
Bianca Peters
Dominic Lenz

Collections:

Focus on Gastrointestinal Diseases

Focus on Pediatrics
Article 25 Nov 2019
Functional characterization of 84 PALB2 variants of uncertain significance

Timothy Wiltshire
Mandy Ducy
Fergus J. Couch

Focus:

Focus on Hematology/Oncology
Article Open Access 21 Oct 2019

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Special Article

Is there a duty to reinterpret genetic data? The ethical dimensions

Paul S. Appelbaum
Erik Parens
Wylie Burke

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues
Special Article 15 Oct 2019

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Education Report

Optimizing genetics online resources for diverse readers

Jiyoo Chang
Monica Penon-Portmann
Joseph T. Shieh

Focus:

Focus on Public Health
Education Report Open Access 26 Nov 2019

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Brief Communication

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants

Hila Fridman
Doron M. Behar
Ephrat Levy-Lahad

Collections:

Focus on Public Health

Focus on Obstetrics and Gynecology
Brief Communication 17 Oct 2019

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Correspondence

Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia

Fabian Baertling
Matias Wagner
Felix Distelmaier
Correspondence 22 Oct 2019
Response to Baertling et al.

Johannes Häberle
Véronique Rüfenacht
Correspondence 22 Oct 2019
The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data

Erik A. Sistermans
Diane Van Opstal
Mark D. Pertile
Correspondence 06 Nov 2019
Response to Sistermans et al.

Peter Benn
Francesca Romana Grati
Jose Ferreira
Correspondence 04 Nov 2019
Detection of iron deficiency in children with Down syndrome

Wei-yun Zhang
Ying-ying Liu
Da-xiong Zeng
Correspondence 12 Nov 2019
Response to Zhang et al.

Sarah J. Hart
Kanecia Zimmerman
Priya S. Kishnani
Correspondence 12 Nov 2019
Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition

Susanna Koivuluoma
Robert Winqvist
Katri Pylkäs
Correspondence Open Access 05 Nov 2019
Commentary on the development of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE)

Caryn Kseniya Rubanovich
Hadley Stevens Smith
Cinnamon S. Bloss
Correspondence 19 Nov 2019
Response to Rubanovich et al.

R. Z. Hayeems
S. Luca
M. S. Meyn

Collection:

Genetic Counseling
Correspondence Open Access 19 Nov 2019

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Correction

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan
Correction 17 Dec 2019
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants

Tracy Brandt
Laura M. Sack
Jeanne M. Meck
Correction 17 Dec 2019
Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral

Sari Lieberman
Ariela Tomer
Ephrat Levy-Lahad
Correction 19 Dec 2019

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