Table of Contents page: Genetics in Medicine

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Editorial Board

Published in issue: August 2022

A1

Masthead

Published in issue: August 2022

A2

Scoping review and classification of deep learning in medical genetics

Suzanna E. Ledgister Hanchard,
Michelle C. Dwyer,
Simon Liu,
...
Rebekah L. Waikel,
Dat Duong,
Benjamin D. Solomon

Published online: May 25, 2022

p1593-1603

Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

Padraig Dixon,
Edna Keeney,
Jenny C. Taylor,
Sarah Wordsworth,
Richard M. Martin

Published online: May 16, 2022

p1604-1617

Open Access

Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis

Pei Dai,
Andrew Honda,
Lisa Ewans,
...
Leslie Burnett,
Matthew Law,
Tri Giang Phan

Published online: May 13, 2022

p1618-1629

Open Access

Health equity in the implementation of genomics and precision medicine: A public health imperative

Muin J. Khoury,
Scott Bowen,
W. David Dotson,
...
Leandris C. Liburd,
Laurence S. Sperling,
Rebecca Bunnell

Published online: April 28, 2022

p1630-1639

Commentary

Improving racial diversity in the genomics workforce: An examination of challenges and opportunities

Catherine Wicklund,
Kunal Sanghavi,
Bernice Coleman,
...
Jacquelyn Y. Taylor,
Kathryn C. Asalone,
Sarah Beachy

Published online: April 25, 2022

p1640-1643

Articles

Pregnant Latinas’ views of adopting exome sequencing into newborn screening: A qualitative study

Haocen Wang,
Robin Page,
Daniela Lopez,
...
Patricia Robbins-Furman,
Nora Montalvo-Liendo,
Lei-Shih Chen

Published online: May 17, 2022

p1644-1652

Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals

Giuseppe D’Alterio,
Vito Alessandro Lasorsa,
Ferdinando Bonfiglio,
...
Massimo Zollo,
Achille Iolascon,
Mario Capasso

Published online: May 05, 2022

p1653-1663

Open Access

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial

Elizabeth G. Liles,
Michael C. Leo,
Amanda S. Freed,
...
Gail P. Jarvik,
Katrina A.B. Goddard,
Benjamin S. Wilfond

Published online: May 06, 2022

p1664-1674

The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

Elisabet Rodriguez Llorian,
Nick Dragojlovic,
Teresa M. Campbell,
...
RAPIDOMICS Study,
Alison M. Elliott,
Larry D. Lynd

Published online: May 26, 2022

p1675-1683

Making BRCA1 genetic test reports easier to understand through user-centered design: A randomized trial

Gabriel Recchia,
Alice C.E. Lawrence,
Lauren Capacchione,
Alexandra L.J. Freeman

Published online: May 05, 2022

p1684-1696

Open Access

A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes

Eleanor G. Seaby,
Damian Smedley,
Ana Lisa Taylor Tavares,
...
Anne O’Donnell-Luria,
Sarah Ennis
on behalf of the Genomics England Research Consortium

Published online: May 09, 2022

p1697-1707

Open Access

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

William Dufour,
Salem Alawbathani,
Anne-Sophie Jourdain,
...
Fabienne Escande,
Florence Petit,
Muhammad Sajid Hussain

Published online: May 17, 2022

p1708-1721

The current state of adult metabolic medicine in the United States: Results of a nationwide survey

Jessica I. Gold,
Nina B. Gold,
Alanna Strong,
...
Rui Xiao,
Lisa A. Schwartz,
Can Ficicioglu

Published online: May 10, 2022

p1722-1731

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano,
Scott Goehringer,
Lawrence Babb,
...
Caroline F. Wright,
Thabo Michael Yates,
Heidi L. Rehm

Published online: May 04, 2022

p1732-1742

A nationally agreed cross-professional competency framework to facilitate genomic testing

Amanda Pichini,
Michelle Bishop

Published online: May 18, 2022

p1743-1752

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs,
Marieke Joosten,
Caroline Alby,
...
Jill A. Rosenfeld,
Monique C. Haak,
Gijs W.E. Santen

Published online: May 17, 2022

p1753-1760

Open Access

De novo variants in the PABP domain of PABPC1 lead to developmental delay

Meret Wegler,
Xiangbin Jia,
Marielle Alders,
...
Senwei Tan,
Hui Guo,
Rami Abou Jamra

Published online: May 05, 2022

p1761-1773

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder

Silvestre Cuinat,
Mathilde Nizon,
Bertrand Isidor,
...
Christophe Philippe,
Stéphane Bezieau,
Benjamin Cogné

Published online: May 13, 2022

p1774-1780

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

Sarah C. Grünert,
Terry G.J. Derks,
Katarina Adrian,
...
Natalie Weinhold,
Petra Zsidegh,
Saskia B. Wortmann

Published online: May 03, 2022

p1781-1788

Open Access

eP384: Clinical, epidemiological and genetic characteristics of children diagnosed with Multisystem Inflammatory Syndrome (MIS-C) in Kuwait

Adnan Al-Sarraf,
Fouzeyah Othman,
Alaa Al-Enezi,
...
Hind Al-Sharhan,
Hessa Al-Kandari,
Fahd Al-Mulla

Published in issue: August 2022

p1789

August 2022

Editorial Board

Masthead