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Issue cover for Volume 25, Issue 4

April 2023

Volume 25Issue 4

Issue cover for Volume 25, Issue 4

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Editorial Board

Published in issue: April 2023

100823

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Masthead

Published in issue: April 2023

100824

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Table of Contents

Published in issue: April 2023

100825

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Systematic Review

Informational needs of individuals from families harboring BRCA pathogenic variants: A systematic review and content analysis

Informational needs of individuals from families harboring BRCA pathogenic variants: A systematic review and content analysis

Sun Young Park,
Yoonjoo Kim,
Sue Kim,
Maria C. Katapodi

Published online: December 18, 2022

100001

Open Access

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Commentary

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare

Jerry Vockley,
Nicola Brunetti-Pierri,
Wendy K. Chung,
...
Christian P. Schaaf,
Martin Schulz,
Elfride De Baere

Published online: January 18, 2023

100022

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Articles

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Rebecca C. Spillmann,
Queenie K.-G. Tan,
Chloe Reuter,
...
Jonathan A. Bernstein,
Vandana Shashi
Undiagnosed Diseases Network

Published online: December 04, 2022

100353

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Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Francis Ramond,
Caroline Dalgliesh,
Mona Grimmel,
...
Carlos E. Prada,
Tobias Haack,
David J. Elliott

Published online: December 19, 2022

100003

Open Access

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Predictors of genetic risk recall among the participants of a randomized controlled precision prevention trial against melanoma

John Charles A. Lacson,
Youngchul Kim,
Richard G. Roetzheim,
Steven K. Sutton,
Susan T. Vadaparampil,
Peter A. Kanetsky

Published online: January 07, 2023

100005

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Returning integrated genomic risk and clinical recommendations: The eMERGE study

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Jodell E. Linder,
Aimee Allworth,
Sarah T. Bland,
...
Ken Wiley,
eMERGE Consortium,
Josh F. Peterson

Published online: January 06, 2023

100006

Open Access

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Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Christina Y. Miyake,
Erica J. Lay,
Claudia Soler-Alfonso,
...
Saad A. Ehsan,
Mahshid S. Azamian,
Seema R. Lalani

Published online: December 02, 2022

100352

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Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation

Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation

Kelly M. Schiabor Barrett,
Elizabeth T. Cirulli,
Alexandre Bolze,
...
Joseph J. Grzymski,
William Lee,
Nicole L. Washington

Published online: January 09, 2023

100012

Open Access

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Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry

Forough Noohi,
Manu S. Sundaresan,
Rochelle N. Naylor,
Lainie Friedman Ross

Published online: January 19, 2023

100019

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Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model

Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model

Kurt D. Christensen,
Pamela M. McMahon,
Lauren N. Galbraith,
...
Maryann Zhao,
Robyn J. Hylind,
Ann Chen Wu

Published online: January 30, 2023

100797

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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon,
Leslie Matalonga,
Elke de Boer,
...
Antonio Vitobello,
Lisenka E.L.M. Vissers,
Laurence Faivre

Published online: January 19, 2023

100018

Open Access

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Primary care physician use of patient race and polygenic risk scores in medical decision-making

Primary care physician use of patient race and polygenic risk scores in medical decision-making

Benjamin J. Kerman,
Charles A. Brunette,
Elizabeth J. Harris,
Ashley A. Antwi,
Amy A. Lemke,
Jason L. Vassy

Published online: February 04, 2023

100800

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