Genetics in Medicine

Volume 22 Issue 4, April 2020

“The piece Entropy I is the display of an abstracted garden. Sense of order is abandoned to allow for the might of nature’s size and beauty, becoming another world in the process.More of the artist’s work can be seen on Instagram: @baxii_bermuda or email: katelyn.h.grant@gmail.com.”

Entropy I | Katelyn Grant

Volume 22 Issue 4

In this Issue

In This Issue

Amanda Grennell
In This Issue 02 Apr 2020
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News

News

Amanda Grennell
News 02 Apr 2020

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ACMG Statement

The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

Kristin G. Monaghan
Natalia T. Leach
Nancy C. Rose

Collection:

ACMG Statements and Guidelines
ACMG Statement 08 Jan 2020
Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

Tuya Pal
Doreen Agnese
Gail P. Jarvik

Collection:

ACMG Statements and Guidelines
ACMG Statement 13 Dec 2019

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ACMG Technical Standard

Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Irene De Biase
Silvia Tortorelli
Nancy Braverman

Collection:

ACMG Statements and Guidelines
ACMG Technical Standard 11 Dec 2019

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Invited Comment

Germline genetic testing for breast cancer: which patients? What genes?

Susan M. Domchek
Invited Comment 13 Dec 2019

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Article

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

Hongyan Li
Holly LaDuca
David E. Goldgar

Focus:

Focus on Hematology/Oncology
Article Open Access 19 Dec 2019
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma

Amin H. Nassar
Sarah Abou Alaiwi
Guru Sonpavde

Focus:

Focus on Hematology/Oncology
Article Open Access 17 Dec 2019
Assessing relatives’ readiness for hereditary cancer cascade genetic testing

Erica M. Bednar
Charlotte C. Sun
Sally W. Vernon

Collections:

Genetic Counseling

Focus on Hematology/Oncology
Article 20 Dec 2019
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Yvonne Bombard
Marc Clausen
Kevin E. Thorpe

Focus:

Focus on Public Health
Article 11 Dec 2019
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Cynthia S. Gubbels
Grace E. VanNoy
Timothy W. Yu

Collections:

Focus on Public Health

Focus on Pediatrics
Article 29 Nov 2019
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Eva Lenassi
Jill Clayton-Smith
Panagiotis I. Sergouniotis

Collections:

Focus on Ophthalmology

Focus on Pediatrics
Article Open Access 18 Dec 2019
Parents’ perceptions of personal utility of exome sequencing results

Lonna Mollison
Julianne M. O’Daniel
Debra Skinner

Collections:

Focus on Public Health

Ethical, Legal, and Social Issues

Focus on Pediatrics
Article 20 Dec 2019
Clustering of comorbid conditions among women who carry an FMR1 premutation

Emily Graves Allen
Krista Charen
Stephanie L. Sherman

Focus:

Focus on Neurology
Article Open Access 03 Jan 2020
Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database

Stephanie L. Santoro
Sheila Cannon
Brian G. Skotko

Collections:

Focus on Neurology

Focus on Pediatrics
Article 26 Nov 2019
Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises

Glenn E. Palomaki
Philip Wyatt
John A. Thorson
Article 13 Jan 2020
Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

Karen E. Wain
Danielle R. Azzariti
Christa Lese Martin
Article 22 Nov 2019

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Education Report

A structured genetics rotation for pediatric residents: an important educational opportunity

RaeLynn Forsyth
Weiyi Mu
Joann Bodurtha

Focus:

Focus on Pediatrics
Education Report 12 Dec 2019

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Brief Communication

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Maria J. Nabais Sá
Hanka Venselaar
David A. Koolen

Collections:

Focus on Neurology

Focus on Pediatrics
Brief Communication 28 Nov 2019
Accurate detection of clinically relevant uniparental disomy from exome sequencing data

Kevin Yauy
Nicole de Leeuw
Christian Gilissen

Focus:

Focus on Pediatrics
Brief Communication Open Access 26 Nov 2019

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Correspondence

When should genomic and exome sequencing be implemented in newborns? A call for an update to newborn screening guidelines

Rachele M. Hendricks-Sturrup
Christine Y. Lu
Correspondence 26 Nov 2019
Response to Dominguez-Valentin M et al. 2019: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

G. Tolva
S. Gandini
B. Bonanni
Correspondence 05 Dec 2019
Response to Tolva et al.

Julian R. Sampson
Mev Dominguez-Valentin
Pål Møller
Correspondence 05 Dec 2019
The case for implementing sustainable routine, population-level genomic reanalysis

Christine Y. Lu
Rachele M. Hendricks-Sturrup
Heidi L. Rehm
Correspondence 12 Dec 2019
It all begins with the phenotype

Jacob W. P. Potuijt
Robert-Jan H. Galjaard
Christianne A. van Nieuwenhoven
Correspondence 11 Dec 2019
Response to Potuijt et al.

Peiqiang Su
Caixia Xu
Quan-Zhen Li
Correspondence 11 Dec 2019

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Correction

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia
Correction 20 Dec 2019
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh
Natasha Jones
Tyler Mark Pierson
Correction 12 Feb 2020

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