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Issue cover for Volume 25, Issue 3

March 2023

Volume 25Issue 3

Issue cover for Volume 25, Issue 3

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Editorial Board

Published in issue: March 2023

100807

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Masthead

Published in issue: March 2023

100809

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Table of Contents

Published in issue: March 2023

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ACMG Statement

The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Marwan K. Tayeh,
Margaret Chen,
Stephanie M. Fullerton,
...
Ashlee R. Stiles,
Barbara J. Evans
on behalf of the ACMG Laboratory Quality Assurance Committee and the ACMG Social, Ethical and Legal Issues Committee

Published online: December 22, 2022

100342

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Systematic Review

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review

Functional genomics for curation of variants in telomere biology disorder associated genes: A systematic review

Niles Nelson,
Simone Feurstein,
Aram Niaz,
...
Kirsten Fairfax,
Joanne Dickinson,
Tracy M. Bryan

Published online: December 06, 2022

100354

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Reviews

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome

Sólveig Óskarsdóttir,
Erik Boot,
Terrence Blaine Crowley,
...
Jacob Vorstman,
Anne S. Bassett,
Donna M. McDonald-McGinn

Published online: February 02, 2023

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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Erik Boot,
Sólveig Óskarsdóttir,
Joanne C.Y. Loo,
...
Claudia Vingerhoets,
Donna M. McDonald-McGinn,
Anne S. Bassett

Published online: February 02, 2023

100344

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Special Articles

Words matter: The language of difference in human genetics

Mildred K. Cho,
Maria Laura Duque Lasio,
Ina Amarillo,
Kevin Todd Mintz,
Robin L. Bennett,
Kyle B. Brothers

Published online: December 16, 2022

100343

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The PrU: Development and validation of a measure to assess personal utility of genomic results

The PrU: Development and validation of a measure to assess personal utility of genomic results

Erin Turbitt,
Jennefer N. Kohler,
Frank Angelo,
...
Benjamin S. Wilfond,
Barbara B. Biesecker,
Michael C. Leo

Published online: December 11, 2022

100356

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Articles

An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic

An intervention strategy to improve genetic testing for dilated cardiomyopathy in a heart failure clinic

Akanksha Mohananey,
Andrew S. Tseng,
Raghav R. Julakanti,
...
Margaret M. Redfield,
Andrew N. Rosenbaum,
Naveen L. Pereira

Published online: December 06, 2022

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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Suzanne E. de Bruijn,
Kim Rodenburg,
Jordi Corominas,
...
Alexander Hoischen,
Kornelia Neveling,
Susanne Roosing

Published online: December 16, 2022

100345

Open Access

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Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1

Neena Agrawal,
Nicole Y. Farhat,
Ninet Sinaii,
...
Bibiana Bielekova,
Beth Solomon,
Forbes D. Porter

Published online: December 02, 2022

100349

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Access to clinically indicated genetic tests for pediatric patients with Medicaid: Evidence from outpatient genetics clinics in Texas

Haley Streff,
Crescenda L. Uhles,
Heather Fisher,
...
Amanda Gerard,
Julianna Hudnall,
Hadley Stevens Smith

Published online: November 29, 2022

100350

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Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies

Matthew J. O’Neill,
Luca Sala,
Isabelle Denjoy,
...
Fabrice Extramiana,
Peter J. Schwartz,
Brett M. Kroncke

Published online: December 06, 2022

100355

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Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Stacey Pereira,
Amanda M. Gutierrez,
Jill Oliver Robinson,
...
Robert C. Green,
Amy L. McGuire
on behalf of The BabySeq Project Team

Published online: December 19, 2022

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Brief Reports

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism

Ying-Chen Claire Hou,
Michael J. Evenson,
Meagan M. Corliss,
...
Jonathan W. Heusel,
Julie A. Neidich,
Yang Cao

Published online: November 29, 2022

100348

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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

Amar J. Majmundar,
Eugen Widmeier,
John F. Heneghan,
...
Shrikant Mane,
Seth L. Alper,
Friedhelm Hildebrandt

Published online: November 29, 2022

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Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021

Hospital-level variation in genetic testing in children’s hospitals’ neonatal intensive care units from 2016 to 2021

Katharine Press Callahan,
Joshua Radack,
Monica H. Wojcik,
...
Cara Skraban,
Katherine Taylor Wild,
Chris Feudtner

Published online: December 12, 2022

100357

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