Genetics in Medicine

Volume 23 Issue 11, November 2021

After All is a piece created in light of the year just been, where a fire can be taken literally or metaphysically, where everything feels up in the air and destructive. I wanted to create a painting that was static and silent to cover the noise of chaos, in hopes of seeing the dust settle after. More of the artist’s work can be seen at www.katelyngrant.art or on Instagram: @baxii_bermuda

Katelyn Grant

Volume 23 Issue 11

In this Issue

In This Issue

In This Issue 28 Oct 2021

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News

News

News 28 Oct 2021

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ACMG Statement

Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)

Collections:

ACMG Statements and Guidelines

Focus on Gastrointestinal Diseases

Focus on Obstetrics and Gynecology
ACMG Statement 28 Jun 2021

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ACMG Practice Guideline

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Kandamurugu Manickam
Monica R. McClain
Fuki M. Hisama

Collection:

ACMG Statements and Guidelines
ACMG Practice Guideline 01 Jul 2021

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Systematic Review

Disclosure of genetic information to family members: a systematic review of normative documents

Amicia Phillips
Pascal Borry
Danya F. Vears

Focus:

Focus on Public Health
Systematic Review 07 Jul 2021
Mucolipidosis type II and type III: a systematic review of 843 published cases

Emma J. Dogterom
Margreet A. E. M. Wagenmakers
Esmée Oussoren

Collections:

Focus on Neurology

Focus on Pediatrics
Systematic Review 25 Jun 2021

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Review Article

Ethical challenges for a new generation of early-phase pediatric gene therapy trials

Alexander A. Iyer
Dimah Saade
Annette Rid

Collections:

Focus on Endocrinology

Focus on Neurology

Therapeutics and Clinical Trials
Review Article 07 Jul 2021

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Article

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study

Nuria Carrillo
May C. Malicdan
William A. Gahl
Article Open Access 13 Jul 2021
An integrative multiomics analysis identifies putative causal genes for COVID-19 severity

Lang Wu
Jingjing Zhu
Chong Wu

Collection:

Genetics in Medicine’s (GIM) SARS-CoV-2/COVID-19 Published Articles and Resources
Article 28 Jun 2021
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia

B. Dalmasso
L. Pastorino
P. Ghiorzo

Focus:

Focus on Dermatology
Article Open Access 14 Jul 2021
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes

C. Cubuk
A. Garrett
CanVIG-UK

Collections:

Ethical, Legal, and Social Issues

Focus on Neurology
Article Open Access 06 Jul 2021
Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer

Jada G. Hamilton
Heather Symecko
Susan M. Domchek

Focus:

Focus on Hematology/Oncology
Article 13 Jul 2021
Potential of polygenic risk scores for improving population estimates of women’s breast cancer genetic risks

Michael Wolfson
Steve Gribble
Jacques Simard

Collections:

Focus on Obstetrics and Gynecology

Focus on Hematology/Oncology
Article Open Access 06 Jul 2021
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J. A. Weerts
Kristina Lanko
Tahsin Stefan Barakat
Article Open Access 03 Aug 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

Maria Iqbal
Reza Maroofian
Gökhan Yigit

Focus:

Focus on Gastrointestinal Diseases
Article Open Access 09 Jul 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

Jérémie Courraud
Eric Chater-Diehl
Amélie Piton

Collections:

Focus on Genomic Variant Interpretation

Focus on Gastrointestinal Diseases
Article 03 Aug 2021
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

Mehdi Benkirane
Cecilia Marelli
Michel Koenig

Focus:

Focus on Gastrointestinal Diseases
Article 07 Jul 2021
A qualitative study of prevalent laboratory information systems and data communication patterns for genetic test reporting

Aly Khalifa
Clinton C. Mason
Stanley M. Huff
Article 06 Jul 2021
A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective

Aly Khalifa
Clinton C. Mason
Stanley M. Huff
Article 25 Aug 2021
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy

Sophie L. V. M. Stroeks
Debby M. E. I. Hellebrekers
Job A. J. Verdonschot
Article 30 Jun 2021
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States

Angela A. Navarrete-Opazo
Maharaj Singh
Sheldon R. Garrison

Collections:

Ethical, Legal, and Social Issues

Focus on Public Health
Article Open Access 28 Jun 2021

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Brief Communication

Treatment of ARS deficiencies with specific amino acids

Gautam Kok
Laura Tseng
Sabine A. Fuchs

Collections:

Focus on Gastrointestinal Diseases

Focus on Neurology

Therapeutics and Clinical Trials
Brief Communication 30 Jun 2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Mayher J. Patel
Marina T. DiStefano
Kejian Zhang

Focus:

Focus on Genomic Variant Interpretation
Brief Communication 06 Jul 2021
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly

Jennifer Morrison
Norah K. Altuwaijri
Thomas Arnesen

Focus:

Focus on Gastrointestinal Diseases
Brief Communication Open Access 06 Jul 2021
Increased risk for dementia in neurofibromatosis type 1

Roope A. Kallionpää
Mikko Valtanen
Juha Peltonen

Focus:

Focus on Hematology/Oncology
Brief Communication Open Access 13 Jul 2021

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Correspondence

Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al.

Nicoletta Resta
Olga Calabrese
Alessandro Mussa
Correspondence 07 Jul 2021
Response to Resta et al.

Virginie Carmignac
Pierre Vabres
Correspondence 07 Jul 2021

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Correction

Correction to: Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)

Correction 23 Jul 2021
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers

Sandesh C. S. Nagamani
Umang Agarwal
Juan C. Marini
Correction 06 May 2021
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Bekim Sadikovic
Michael A. Levy
Marielle Alders
Correction 26 Feb 2021
Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts

Dale L. Bodian
Prachi Kothiyal
Natalie S. Hauser
Correction 03 May 2021
Correction: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs
Erica F. Andersen
Christa Lese Martin

Collection:

ACMG Statements and Guidelines
Correction 17 Mar 2021
Correction to: Correspondence on “AminoacyltRNA synthetase deficiencies in search of common themes” by Fuchs et al.

Yan-Wen Shen
Li-Ping Zou
Correction 20 Apr 2021
Correction: The illusion of polygenic disease risk prediction

Nicholas J. Wald
Robert Old
Correction 22 Apr 2021
Correction to: 1-¹³C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Irini Manoli
Alexandra R. Pass
Charles P. Venditti
Correction Open Access 10 May 2021
Correction to: Cardiovascular risk factors and body composition in adults with achondroplasia

Svein O. Fredwall
Jennifer Linge
Serena Tonstad
Correction Open Access 07 Jul 2021
Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth

Yu-Chung Lin
Katherine Keenan
Lisa J. Strug
Correction Open Access 13 Aug 2021

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