Volume 22 Issue 8, August 2020

Rhinebarger’s paintings are devoted to expressing a sense of calm, an appreciation of natural elements, and the intrigue of exploring layers of color, texture, shape, and pattern. The cover shows a close-up of a work on a wood panel, with three-dimensional textural effects. More of the artist’s work can be seen at https://carolynrhinebarger.com.

Tears of the Sun|Carolyn Rhinebarger

In this Issue

In This Issue

V. L. Dengler
In This Issue 31 Jul 2020
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News

News

V. L. Dengler
News 31 Jul 2020

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ACMG Statement

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan
Elizabeth Chao
Scott Topper

Collection:

ACMG Statements and Guidelines
ACMG Statement 14 May 2020

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ACMG Technical Standard

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan
Caroline Astbury
Sue Richards

Collections:

Focus on Public Health

ACMG Statements and Guidelines

Focus on Genomic Variant Interpretation

Focus on Pediatrics
ACMG Technical Standard 14 May 2020

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Article

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Denise M. Kay
Colleen F. Stevens
Michele Caggana

Collections:

Focus on Public Health

Focus on Neurology

Focus on Pediatrics
Article 18 May 2020
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

Hadley Stevens Smith
John M. Swint
Brendan H. Lee

Focus:

Focus on Pediatrics
Article 27 Apr 2020
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

Ilias Goranitis
Stephanie Best
Tiffany Boughtwood
Article Open Access 06 May 2020
Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach

Maggie Westemeyer
Jennifer Saucier
Paul Billings

Collections:

Focus on Public Health

Diversity
Article Open Access 05 May 2020
DLG2 variants in patients with pubertal disorders

Youn Hee Jee
Sehoon Won
Jeffrey Baron

Focus:

Focus on Endocrinology
Article 28 Apr 2020
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Li Xin Zhang
Gabrielle Lemire
Philippe M. Campeau

Focus:

Focus on Neurology
Article 19 May 2020
Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

Miranda L. G. Hallquist
Eric P. Tricou
Adam H. Buchanan

Collections:

Genetic Counseling

Focus on Hematology/Oncology
Article 30 Apr 2020
Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Romy L. S. Mesman
Fabienne M. G. R. Calléja
Maaike P. G. Vreeswijk

Focus:

Focus on Genomic Variant Interpretation
Article Open Access 13 May 2020
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma

Kathryn Lasseter
Amin H. Nassar
David J. Kwiatkowski

Focus:

Focus on Hematology/Oncology
Article 28 Apr 2020
Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Ria Schönauer
Sebastian Baatz
Jan Halbritter
Article Open Access 13 May 2020
The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

Stephanie Best
Zornitza Stark
Natalie Taylor

Focus:

Focus on Public Health
Article Open Access 13 May 2020

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Education Report

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

Willie H. Chang
Pouria Mashouri
Michael Brudno
Education Report 05 May 2020

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Brief Communication

Longitudinal follow-up after telephone disclosure in the randomized COGENT study

Madison K. Kilbride
Brian L. Egleston
Angela R. Bradbury
Brief Communication 07 May 2020
Biases in arginine codon usage correlate with genetic disease risk

Katharina V. Schulze
Neil A. Hanchard
Michael F. Wangler

Focus:

Focus on Genomic Variant Interpretation
Brief Communication 06 May 2020
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Sakshi Singh
Aditi Gupta
Bobby P. C. Koeleman

Collections:

Focus on Neurology

Focus on Pediatrics
Brief Communication Open Access 05 May 2020

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Correspondence

Comment on the criteria for interpretation of mitochondrial tRNA variants

Renkui Bai
Amanda Balog
Hong Cui
Correspondence 18 May 2020
Response to Bai et al.

Lee-Jun C. Wong
Ting Chen
William J. Craigen
Correspondence 18 May 2020
Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Patrick R. Benusiglio
Florence Coulet
Gregory Nuel
Correspondence 15 May 2020
Response to Benusiglio et al.

Emma J. Crosbie
D. Gareth Evans
Correspondence 15 May 2020

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Correction

Correction: The genomic and clinical landscape of fetal akinesia

Matthias Pergande
Susanne Motameny
Sebahattin Cirak
Correction 26 May 2020
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Neeta L. Vora
Kelly Gilmore
Bradford C. Powell
Correction 18 Jun 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

Willie H. Chang
Pouria Mashouri
Michael Brudno
Correction 18 Jun 2020
Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Romy L. S. Mesman
Fabienne M. G. R. Calléja
Maaike P. G. Vreeswijk
Correction Open Access 24 Jun 2020

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Volume 22 Issue 8, August 2020

In this Issue

In This Issue

News

News

ACMG Statement

Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG Technical Standard

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Article

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions

The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

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

DLG2 variants in patients with pubertal disorders

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

Positive impact of genetic counseling assistants on genetic counseling efficiency, patient volume, and cost in a cancer genetics clinic

Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

The leadership behaviors needed to implement clinical genomics at scale: a qualitative study

Education Report

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

Brief Communication

Longitudinal follow-up after telephone disclosure in the randomized COGENT study

Biases in arginine codon usage correlate with genetic disease risk

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Correspondence

Comment on the criteria for interpretation of mitochondrial tRNA variants

Response to Bai et al.

Overcoming the challenges associated with universal screening for Lynch syndrome in colorectal and endometrial cancer

Response to Benusiglio et al.

Correction

Correction: The genomic and clinical landscape of fetal akinesia

Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes

Correction: Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2

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