Volume 23 Issue 7, July 2021

When it became clear early last year that we all needed face protection, I joined a group of mask makers. We made almost a thousand masks and I saved all the leftover threads. Mounted on fabric these remnants became a planet lost in space, or an image of the virus itself. More details about the artist can be found at https://awolfenden.com/.

Anita Wolfenden

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In This Issue

In This Issue 24 Jun 2021

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News

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News 25 Jun 2021

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ACMG Statement

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Elizabeth C. Chao
Caroline Astbury
Jeffrey N. Weitzel

Collection:

ACMG Statements and Guidelines
ACMG Statement 16 Apr 2021

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Article

Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network

Geoffrey S. Ginsburg
Larisa H. Cavallari
Sara Van Driest

Collections:

Therapeutics and Clinical Trials

Focus on Public Health
Article 29 Mar 2021
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing

Christopher Lee
Omar Elsekaily
Iftikhar J. Kullo
Article 06 Apr 2021
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faundes
Stephanie Goh
Siddharth Banka
Article Open Access 05 Mar 2021
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

Paul Wolujewicz
Vanessa Aguiar-Pulido
M. Elizabeth Ross

Collections:

Focus on Neurology

Focus on Obstetrics and Gynecology
Article Open Access 08 Mar 2021
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Eva Schrezenmeier
Elisa Kremerskothen
Carsten Bergmann
Article Open Access 12 Mar 2021
Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics

Zirui Dong
Matthew Hoi Kin Chau
Kwong Wai Choy
Article 26 Mar 2021
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Fuad Chowdhury
Lei Wang
Tugce B. Balci
Article 06 Apr 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Daniel L. Polla
Mohammad Ali Farazi Fard
Hans van Bokhoven
Article 06 Apr 2021
Reducing Sanger confirmation testing through false positive prediction algorithms

James M. Holt
Melissa Kelly
Elaine Lyon
Article Open Access 25 Mar 2021
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Katherine Crawford
Julie Xian
Ingo Helbig

Focus:

Focus on Neurology
Article Open Access 17 Mar 2021
Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample

Arezoo Movaghar
David Page
Marsha Mailick
Article Open Access 26 Mar 2021
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

Andrea D. Thompson
Adam S. Helms
Sharlene M. Day

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 29 Mar 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Jennifer J. Johnston
Robert T. Dirksen
Leslie G. Biesecker

Focus:

Focus on Genomic Variant Interpretation
Article 25 Mar 2021
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Pauline Arnaud
Olivier Milleron
Guillaume Jondeau

Focus:

Focus on Vascular Surgery and Cardiology
Article Open Access 17 Mar 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency

Seok-Ho Yu
Tong Wang
Richard Steet

Focus:

Focus on Neurology
Article 17 Mar 2021
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina
Kazim Ogmen
Pia Ostergaard
Article Open Access 16 Apr 2021
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

Huda B. Al-Kouatly
Mona M. Makhamreh
Seth I. Berger

Focus:

Focus on Obstetrics and Gynecology
Article 08 Mar 2021
Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

David A. Zeevi
Daniel Backenroth
Gheona Altarescu
Article 26 Mar 2021
Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing

Stephanie Guseh
Louise Wilkins-Haug
Kathryn J. Gray
Article 29 Mar 2021
Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants

Erica Soster
Theresa Boomer
Eyad Almasri
Article Open Access 17 Mar 2021

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Education Report

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

Amy Nisselle
Monika Janinski
Clara Gaff
Education Report 06 Apr 2021

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Brief Communication

Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights

Jennifer M. Yeh
Natasha K. Stout
Ann Chen Wu

Focus:

Focus on Hematology/Oncology
Brief Communication 25 Mar 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Monica H. Wojcik
Tian Zhang
Timothy W. Yu
Brief Communication 26 Mar 2021

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Correction

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Silvia Martin-Almedina
Kazim Ogmen
Pia Ostergaard
Correction Open Access 26 May 2021
Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants

Erica Soster
Theresa Boomer
Eyad Almasri
Correction Open Access 06 May 2021

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Volume 23 Issue 7, July 2021

In this Issue

In This Issue

News

News

ACMG Statement

Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Article

Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Low-pass genome sequencing–based detection of absence of heterozygosity: validation in clinical cytogenetics

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Reducing Sanger confirmation testing through false positive prediction algorithms

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Artificial intelligence–assisted phenotype discovery of fragile X syndrome in a population-based sample

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation

Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility

Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing

Utility of noninvasive genome-wide screening: a prospective cohort of obstetric patients undergoing diagnostic testing

Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy-number variants

Education Report

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

Brief Communication

Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Correction

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants

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