Genetics in Medicine

Volume 23 Issue 1, January 2021

Vivid blues, greens and violets depict an abstract landscape where the viewer is at the edge of a forest looking out to an open space, not yet out of the woods. Written on the tree trunks are 559 common names of all the plants that are endangered in North Carolina.

Not Yet Out Of The Woods, 2019 | Lana Chu

Volume 23 Issue 1

In this Issue

In This Issue

In This Issue 18 Dec 2020

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News

News

News 18 Dec 2020

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Systematic Review

A systematic review of monogenic etiologies of nonimmune hydrops fetalis

Andrea M. Quinn
Breanna N. Valcarcel
Seth I. Berger

Collections:

Focus on Obstetrics and Gynecology

Focus on Pediatrics
Systematic Review 21 Oct 2020
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

Nikolas Boy
Katharina Mengler
Stefan Kölker

Collections:

Focus on Neurology

Focus on Pediatrics
Systematic Review Open Access 28 Sept 2020
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis

Chloe Mighton
Salma Shickh
Yvonne Bombard

Collections:

Focus on Genomic Variant Interpretation

Ethical, Legal, and Social Issues
Systematic Review 14 Sept 2020

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Review Article

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

Eva D’haene
Sarah Vergult

Collections:

Focus on Genomic Variant Interpretation

Focus on Neurology

Focus on Pediatrics
Review Article Open Access 25 Sept 2020

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Article

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Roddy Walsh
Najim Lahrouchi
Connie R. Bezzina

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Public Health
Article Open Access 07 Sept 2020
A novel statistical method for interpreting the pathogenicity of rare variants

Jun Wang
Hehe Liu
Rui Chen

Focus:

Focus on Genomic Variant Interpretation
Article 04 Sept 2020
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

Xiaolei Zhang
Roddy Walsh
James S. Ware

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Genomic Variant Interpretation
Article Open Access 13 Oct 2020
Predicting the risk of cardiac myxoma in Carney complex

Georgia Pitsava
Chunming Zhu
Constantine A. Stratakis

Focus:

Focus on Vascular Surgery and Cardiology
Article 07 Sept 2020
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Emma S. Singer
Samantha B. Ross
Richard D. Bagnall

Collections:

Heart health

Focus on Vascular Surgery and Cardiology

Focus on Public Health
Article 25 Sept 2020
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Brittany M. Wenger
Nihir Patel
Bruce D. Gelb

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Public Health
Article 29 Sept 2020
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

Eva S. van Walree
Gregor Dombrowsky
Inge B. Mathijssen

Focus:

Focus on Vascular Surgery and Cardiology
Article 21 Aug 2020
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Sandy Elbitar
Marjolijn Renard
Marianne Abifadel
Article 28 Aug 2020
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

Kaitlyn Zenner
Dana M. Jensen
James T. Bennett

Focus:

Focus on Dermatology
Article 04 Sept 2020
Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Shana Verschuere
Nastassia Navassiolava
Olivier M. Vanakker

Focus:

Focus on Genomic Variant Interpretation
Article 02 Sept 2020
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria

Amy K. Dickey
Corbin Quick
David C. Christiani

Collections:

Focus on Hematology/Oncology

Focus on Public Health
Article 02 Sept 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Eliane Beauregard-Lacroix
Guillermo Pacheco-Cuellar
Philippe M. Campeau

Focus:

Focus on Neurology
Article 02 Sept 2020
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment

Ilias Goranitis
Stephanie Best
John Christodoulou

Collections:

Focus on Neurology

Focus on Pediatrics
Article 25 Aug 2020
A randomized controlled trial of an online health tool about Down syndrome

Jeanhee Chung
Karen Donelan
Brian G. Skotko

Collections:

Focus on Neurology

Focus on Pediatrics

Focus on Public Health
Article 03 Sept 2020
Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Ludivine Drougat
Nikolaos Settas
Constantine A. Stratakis

Focus:

Focus on Endocrinology
Article 08 Sept 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Kushani Jayasinghe
Zornitza Stark
Catherine Quinlan
Article Open Access 17 Sept 2020
Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Daniel G. Bichet
Johannes M. Aerts
Raphael Schiffmann

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 30 Sept 2020
Galactokinase deficiency: lessons from the GalNet registry

M. Estela Rubio-Gozalbo
Britt Derks
Gerard T. Berry

Collections:

Focus on Ophthalmology

Focus on Pediatrics
Article Open Access 18 Aug 2020

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Brief Communication

Assessment of technical heterogeneity among diagnostic tests to detect germline risk variants for hematopoietic malignancies

Gregory W. Roloff
Lucy A. Godley
Michael W. Drazer

Collections:

Focus on Genomic Variant Interpretation

Focus on Hematology/Oncology
Brief Communication 18 Aug 2020
When phenotype does not match genotype: importance of “real-time” refining of phenotypic information for exome data interpretation

Lina Basel-Salmon
Noa Ruhrman-Shahar
Lily Bazak

Focus:

Focus on Genomic Variant Interpretation
Brief Communication 17 Aug 2020

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Education Report

The NHGRI Short Course in Genomics: energizing genetics and genomics education in classrooms through direct engagement between educators and scientists

Sarah M. Robbins
Christina R. Daulton
Carla Easter

Focus:

Focus on Public Health
Education Report 15 Sept 2020

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Correspondence

Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer

Emily L. Mounts
Andria G. Besser

Focus:

Focus on Vascular Surgery and Cardiology
Correspondence 19 Aug 2020
Correspondence on “Is there a duty to reinterpret genetic data? The ethical dimensions” by Appelbaum et al.

Nicole Faulkner
Swaroop Aradhya
Robert L. Nussbaum
Correspondence 02 Sept 2020
Correspondence on “The prevalence of genetic diagnoses in fetuses with severe congenital heart defects” by Nisselrooij et al.

My Linh Thibodeau
Sylvie Langlois
Correspondence 27 Sept 2020

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Correction

Correction: A randomized controlled trial of an online health tool about Down syndrome

Jeanhee Chung
Karen Donelan
Brian G. Skotko
Correction 09 Nov 2020
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

Eliane Beauregard-Lacroix
Guillermo Pacheco-Cuellar
Philippe M. Campeau
Correction 15 Sept 2020
Correction: Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Daniel G. Bichet
Johannes M. Aerts
Raphael Schiffmann
Correction Open Access 20 Nov 2020
Correction: Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

Ludivine Drougat
Nikolaos Settas
Constantine A. Stratakis
Correction 20 Oct 2020

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Correspondence

Response to Mounts and Besser

Gordana Raca
Marwan Shinawi
Daniela del Gaudio
Correspondence 20 Aug 2020
Response to Faulkner et al.

Paul S. Appelbaum
Erik Parens
Wylie Burke
Correspondence 02 Sept 2020
Response to Thibodeau and Langlois

Amber E. L. van Nisselrooij
Emmelien Aten
Monique C. Haak
Correspondence 27 Sept 2020

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