July 2022

Editorial Board
Published in issue: July 2022
A1

Masthead
Published in issue: July 2022
A2

Table of Contents
Published in issue: July 2022
A3-A5

ACMG Articles

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies
• Nancy C. Rose,
• Elizabeth S. Barrie,
• Jennifer Malinowski,
• ...
• Danielle LaGrave,
• Marco L. Leung
• on behalf of the ACMG Professional Practice and Guidelines Committee
Published online: May 24, 2022
p1379-1391

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
• Marilyn M. Li,
• Ahmad Abou Tayoun,
• Marina DiStefano,
• ...
• Amanda M. Schaefer,
• Christine Yoshinaga-Itano
• on behalf of the ACMG Professional Practice and Guidelines Committee
Published online: May 10, 2022
p1392-1406
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
• David T. Miller,
• Kristy Lee,
• Noura S. Abul-Husn,
• ...
• Douglas R. Stewart,
• Christa Lese Martin
• on behalf of the ACMG Secondary Findings Working Group
Published online: June 17, 2022
p1407-1414

Systematic Review

Structured approaches to implementation of clinical genomics: A scoping review
• Helen L. Brown,
• Isabella A. Sherburn,
• Clara Gaff,
• Natalie Taylor,
• Stephanie Best
Published online: April 20, 2022
p1415-1424
Open Access

Clinical Trials

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
• Melissa Wasserstein,
• Robin Lachmann,
• Carla Hollak,
• ...
• Beth L. Thurberg,
• Atef Zaher,
• Monica Kumar
Published online: April 26, 2022
p1425-1436
Open Access

Long-term open-label phase I/II extension study of intrathecal idursulfase-IT in the treatment of neuronopathic mucopolysaccharidosis II
• Joseph Muenzer,
• Suresh Vijayaraghavan,
• Margot Stein,
• Shauna Kearney,
• Yuna Wu,
• David Alexanderian
Published online: May 19, 2022
p1437-1448
Open Access

Articles

High-affinity FcγRIIIa genetic variants and potent NK cell-mediated antibody-dependent cellular cytotoxicity (ADCC) responses contributing to severe COVID-19
• Hannes Vietzen,
• Vera Danklmaier,
• Alexander Zoufaly,
• Elisabeth Puchhammer-Stöckl
Published online: April 30, 2022
p1449-1458

Prevalence and prediction of medical distrust in a diverse medical genomic research sample
• Frank Angelo,
• David Veenstra,
• Sarah Knerr,
• Beth Devine
Published online: April 06, 2022
p1459-1467

Evaluating breast cancer predisposition genes in women of African ancestry
• Héctor Díaz-Zabala,
• Xingyi Guo,
• Jie Ping,
• ...
• Julie R. Palmer,
• Maureen Sanderson,
• Wei Zheng
Published online: April 08, 2022
p1468-1475

Age of first cancer diagnosis and survival in Bloom syndrome
• Thelma Alessandra Sugrañes,
• Maeve Flanagan,
• Charlene Thomas,
• Vivian Y. Chang,
• Michael Walsh,
• Christopher Cunniff
Published online: April 13, 2022
p1476-1484
Breast cancer risk stratification in women of screening age: Incremental effects of adding mammographic density, polygenic risk, and a gene panel
• D. Gareth R. Evans,
• Elke M. van Veen,
• Elaine F. Harkness,
• ...
• William G. Newman,
• Jack Cuzick,
• Anthony Howell
Published online: April 15, 2022
p1485-1494
Open Access
TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study
• Barry H. Trachtenberg,
• Javier Jimenez,
• Alanna A. Morris,
• ...
• Gordon S. Huggins,
• Ray E. Hershberger
• On behalf of the DCM Precision Medicine Study of the DCM Consortium
Published online: April 18, 2022
p1495-1502

A clinical scoring system for early onset (neonatal) Marfan syndrome
• Yuri A. Zarate,
• Shaine A. Morris,
• Anna Blackshare,
• ...
• Erin M. Miller,
• Kathryn Nicole Weaver,
• Ronnie Thomas Collins II
Published online: April 14, 2022
p1503-1511

The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice
• Hui-Lin Chin,
• Nour Gazzaz,
• Stephanie Huynh,
• ...
• Damian Smedley,
• Peter N. Robinson,
• Cornelius F. Boerkoel
Published online: April 19, 2022
p1512-1522

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
• Talya Millo,
• Antonio Rivera,
• Alexey Obolensky,
• ...
• Susanne Roosing,
• Eyal Banin,
• Dror Sharon
Published online: April 29, 2022
p1523-1535

Real world outcomes and implementation pathways of exome sequencing in an adult genetic department
• Maie Walsh,
• Kirsty West,
• Jessica A. Taylor,
• ...
• Ingrid M. Winship,
• Alison H. Trainer,
• Paul A. James
Published online: April 13, 2022
p1536-1544

Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
• Tianyuan Lu,
• Vincenzo Forgetta,
• John Brent Richards,
• Celia M.T. Greenwood
Published online: April 23, 2022
p1545-1555
Open Access

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study
• Elizabeth I. Pierpont,
• Daniel L. Kenney-Jung,
• Ryan Shanley,
• ...
• Samuel J. Kroening,
• Amy E. Roberts,
• Martin Zenker
Published online: May 07, 2022
p1556-1566
Open Access

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder
• Suma P. Shankar,
• Kristin Grimsrud,
• Louise Lanoue,
• ...
• Kent Lloyd,
• Katherine A. Rauen
• on behalf of the Undiagnosed Diseases Network
Published online: April 28, 2022
p1567-1582

Brief Report

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
• Marije Meuwissen,
• Aline Verstraeten,
• Emmanuelle Ranza,
• ...
• Mary Alice Abbot,
• Stylianos E. Antonarakis,
• Bart Loeys
Published online: May 02, 2022
p1583-1591

Erratum

OP049: Automated isolation and genetic characterization of single circulating fetal trophoblasts in pregnant women
Published in issue: July 2022
p1592