Genetics in Medicine

Volume 23 Issue 4, April 2021

“This painting is evocative of a cell or the mind and their struggle to adapt to external (societal, environmental) pressures to persist, and as reminiscent of an island or our planet while morphing due to the constant humankind-induced exploitation in order to survive.” See more of her work at www.agprat.com.

Until When | Adriana Prat

Volume 23 Issue 4

In this Issue

In This Issue

In This Issue 25 Mar 2021

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News

News

News 24 Mar 2021

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Systematic Review

Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review

Agnes Sebastian
June C. Carroll
Yvonne Bombard

Collection:

Ethical, Legal, and Social Issues
Systematic Review 08 Jan 2021

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Comment

Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative

Kelsey S. Lau-Min
Stephanie Byers Asher
Katherine L. Nathanson

Focus:

Focus on Public Health
Comment Open Access 10 Dec 2020

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Article

Evaluating the resource implications of different service delivery models for offering additional genomic findings

Martin Vu
Koen Degeling
Maarten J. IJzerman

Collection:

Ethical, Legal, and Social Issues
Article 20 Nov 2020
Private payer coverage policies for ApoE-e4 genetic testing

Jalayne J. Arias
Ana M. Tyler
Kathryn A. Phillips

Collections:

Ethical, Legal, and Social Issues

Focus on Neurology
Article 08 Jan 2021
A hybrid implementation-effectiveness randomized trial of CYP2D6-guided postoperative pain management

Cameron D. Thomas
Hari K. Parvataneni
Larisa H. Cavallari

Collection:

Therapeutics and Clinical Trials
Article 08 Jan 2021
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants

Rebecca A. Rojas
Anna A. Kutateladze
Ravikumar Balasubramanian

Focus:

Focus on Obstetrics and Gynecology
Article 13 Jan 2021
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Dong Li
Alanna Strong
Elizabeth Bhoj

Collections:

Focus on Ophthalmology

Focus on Vascular Surgery and Cardiology

Focus on Gastrointestinal Diseases
Article 27 Nov 2020
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

D. L. Polla
E. J. Bhoj
A. P. M. de Brouwer
Article 27 Nov 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner
Heinrich Sticht
Konrad Platzer

Collections:

Focus on Neurology

Focus on Pediatrics
Article 10 Dec 2020
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Uirá Souto Melo
Devon Bonner
Heather M. Byers

Focus:

Focus on Neurology
Article 08 Jan 2021
CNV profiles of Chinese pediatric patients with developmental disorders

Haiming Yuan
Shaofang Shangguan
Xiaoli Chen

Collections:

Focus on Neurology

Focus on Pediatrics
Article 05 Jan 2021
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly

Denise Horn
Elisa Fernández-Núñez
Victor L. Ruiz-Perez

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Neurology
Article 13 Jan 2021
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

Miranda Durkie
Jiehan Chong
Albert C. M. Ong
Article 10 Nov 2020
Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma

María Santos
Javier Lanillos
Cristina Rodriguez-Antona

Focus:

Focus on Hematology/Oncology
Article 13 Jan 2021
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Mev Dominguez-Valentin
Emma J. Crosbie
Pål Møller

Collections:

Focus on Obstetrics and Gynecology

Focus on Hematology/Oncology
Article Open Access 01 Dec 2020
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort

Asha N. Talati
Kelly L. Gilmore
Neeta L. Vora

Collections:

Ethical, Legal, and Social Issues

Focus on Obstetrics and Gynecology
Article 20 Nov 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

Julie Steffann
Sophie Monnot
Jean-Paul Bonnefont

Focus:

Focus on Obstetrics and Gynecology
Article 11 Dec 2020
Cardiovascular risk factors and body composition in adults with achondroplasia

Svein O. Fredwall
Jennifer Linge
Serena Tonstad

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 18 Nov 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz

Focus:

Focus on Neurology
Article Open Access 26 Nov 2020
Neurofilament light chain levels correlate with clinical measures in CLN3 disease

An N. Dang Do
Ninet Sinaii
Forbes D. Porter

Focus:

Focus on Neurology
Article 26 Nov 2020
Health and economic outcomes of newborn screening for infantile-onset Pompe disease

John S. Richardson
Alex R. Kemper
Lisa A. Prosser

Collections:

Focus on Neurology

Focus on Public Health
Article 07 Dec 2020
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening

Nicole Ruiz-Schultz
David Sant
Andreas Rohrwasser

Collections:

Focus on Pediatrics

Focus on Public Health
Article 13 Jan 2021

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Brief Communication

A state-based approach to genomics for rare disease and population screening

Kelly M. East
Whitley V. Kelley
Bruce R. Korf

Focus:

Focus on Public Health
Brief Communication 27 Nov 2020
Patients dispensed medications with actionable pharmacogenomic biomarkers: rates and characteristics

Dianbo Liu
Karen L. Olson
Kenneth D. Mandl

Collection:

Therapeutics and Clinical Trials
Brief Communication 08 Jan 2021
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3

Daniel Peter Sayer Osborn
Leila Emrahi
Homa Tajsharghi

Focus:

Focus on Vascular Surgery and Cardiology
Brief Communication Open Access 08 Dec 2020

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Correspondence

Response to Biesecker et al.

Joseph J. Shen
Saskia B. Wortmann
Madhuri R. Hegde
Correspondence 08 Jan 2021

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Correction

Correction: Long-awaited progress in addressing genetic discrimination in the United States

A. C. F. Lewis
R. C. Green
A. E. R. Prince
Correction 27 Oct 2020
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner
Heinrich Sticht
Konrad Platzer
Correction 08 Mar 2021

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