Volume 22 Issue 7, July 2020

Trees Are Oracles (2017, 24″ × 30″), from the Memory Possibilities series. “Arising from a randomly chosen drawing (legacy of previous generations engraved on a pad, as blueprint), the painting reveals itself. Here, trees tell stories in code we don’t understand. How to make a tree? Understand our future.” More of the artist’s work can be seen at http://www.thenuttgallery.com/

Trees Are Oracles | Randy Nutt

In this Issue

In This Issue

V. L. Dengler
In This Issue 02 Jul 2020
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News

News

V. L. Dengler
News 02 Jul 2020

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ACMG Statement

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Daniela del Gaudio
Marwan Shinawi
Gordana Raca

Collections:

ACMG Statements and Guidelines

Focus on Genomic Variant Interpretation
ACMG Statement 16 Apr 2020
Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Marilyn M. Li
Elizabeth Chao
Douglas R. Stewart

Collections:

Focus on Public Health

ACMG Statements and Guidelines

Focus on Genomic Variant Interpretation

Focus on Hematology/Oncology
ACMG Statement 23 Apr 2020

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Systematic Review

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care

Stephanie White
Chris Jacobs
Jane Phillips
Systematic Review 21 Apr 2020

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Review Article

X-linked diseases: susceptible females

Barbara R. Migeon

Focus:

Focus on Public Health
Review Article Open Access 14 Apr 2020

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Comment

COVID-19 outcomes and the human genome

Michael F. Murray
Eimear E. Kenny
Noura S. Abul-Husn

Collections:

Focus on Public Health

Genetics in Medicine’s (GIM) SARS-CoV-2/COVID-19 Published Articles and Resources
Comment 12 May 2020
Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

Nicola Brunetti-Pierri
Simona Fecarotta
Giancarlo Parenti

Collection:

Genetics in Medicine’s (GIM) SARS-CoV-2/COVID-19 Published Articles and Resources
Comment 15 May 2020

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Article

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Joseph K. Aicher
Paul Jewell
Elizabeth J. Bhoj

Focus:

Focus on Genomic Variant Interpretation
Article 30 Mar 2020
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

Xue Zhong
Zhijun Yin
Nancy J. Cox

Nature Outlook:

Cystic fibrosis
Article 16 Apr 2020
Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

Jamie McDonald
Pinar Bayrak-Toydemir
Kevin Whitehead
Article 17 Apr 2020
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

Amber E. L. van Nisselrooij
Malou A. Lugthart
Monique C. Haak

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Obstetrics and Gynecology

Focus on Pediatrics
Article Open Access 28 Apr 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla-Vallmanya
Kaja K. Selmer
Christopher T. Gordon

Collections:

Focus on Vascular Surgery and Cardiology

Focus on Neurology
Article 07 May 2020
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Liron Malki
Ofer Sarig
Eli Sprecher

Focus:

Focus on Dermatology
Article 27 Apr 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan
Stéphanie S. Cornelis
Frans P. M. Cremers

Focus:

Focus on Ophthalmology
Article 20 Apr 2020
The landscape of pharmacogenetic testing in a US managed care population

Heather D. Anderson
Kristy R. Crooks
Christina L. Aquilante

Focus:

Focus on Public Health
Article Open Access 15 Apr 2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Lisa G. Riley
Mark J. Cowley
John Christodoulou

Collections:

Focus on Neurology

Focus on Pediatrics
Article 21 Apr 2020
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

Xinying Hong
Martin Sadilek
Michael H. Gelb

Focus:

Focus on Pediatrics
Article 20 Apr 2020
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Kelly Schoch
Queenie K.-G. Tan
Vandana Shashi

Focus:

Focus on Genomic Variant Interpretation
Article 05 May 2020

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Correspondence

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Idit Maya
Lina Basel-Salmon
Lena Sagi-Dain
Correspondence 28 Apr 2020
Response to Maya et al.

Erin Rooney Riggs
Erica F. Andersen
Christa Lese Martin
Correspondence 28 Apr 2020

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Correction

Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

Lina Sobhi Abdrabo
David Watkins
David S. Rosenblatt
Correction 02 Jun 2020
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

Yoichi Wada
Atsuo Kikuchi
Shigeo Kure
Correction 05 Jun 2020
Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

Maggie Westemeyer
Jennifer Saucier
Paul Billings
Correction Open Access 02 Jun 2020

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Volume 22 Issue 7, July 2020

In this Issue

In This Issue

News

News

ACMG Statement

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Systematic Review

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care

Review Article

X-linked diseases: susceptible females

Comment

COVID-19 outcomes and the human genome

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

Article

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

The landscape of pharmacogenetic testing in a US managed care population

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Correspondence

High-frequency low-penetrance copy-number variant classification: should we revise the existing guidelines?

Response to Maya et al.

Correction

Correction: Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia

Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

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