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Issue cover for Volume 25, Issue 2

February 2023

Volume 25Issue 2

Issue cover for Volume 25, Issue 2

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Editorial Board

Published in issue: February 2023

100009

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Masthead

Published in issue: February 2023

100010

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Table of Contents

Published in issue: February 2023

100011

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Publisher’s Note

Published in issue: February 2023

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ACMG Practice Guideline

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)

Jeffrey S. Dungan,
Susan Klugman,
Sandra Darilek,
...
Angelika Erwin,
Robert G. Best
on behalf of the ACMG Board of Directors

Published online: December 16, 2022

100336

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ACMG Statements

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Gordana Raca,
Caroline Astbury,
Andrea Behlmann,
...
Erik C. Thorland,
Joshua L. Deignan
on behalf of the ACMG Laboratory Quality Assurance Committee

Published online: December 12, 2022

100316

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Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Kuntal Sen,
Lindsay C. Burrage,
Kimberly A. Chapman,
...
George V. Mazariegos,
Brett H. Graham
on behalf of the ACMG Therapeutics Committee

Published online: December 19, 2022

100337

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Review

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States

Margie A. Ream,
Wendy K.K. Lam,
Scott D. Grosse,
...
Susan Tanksley,
Cynthia M. Powell,
Alex R. Kemper

Published online: November 29, 2022

100330

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Commentaries

Importance of adopting standardized MANE transcripts in clinical reporting

Caroline F. Wright,
David R. FitzPatrick,
James S. Ware,
Heidi L. Rehm,
Helen V. Firth

Published online: November 28, 2022

100331

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Rare disease therapeutics: The future of medical genetics in a changing landscape

Christopher D. Connolly,
Shane C. Quinonez,
Elizabeth G. Ames

Published online: December 07, 2022

100339

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Special Article

FDA approval summary for lonafarnib (Zokinvy) for the treatment of Hutchinson-Gilford progeria syndrome and processing-deficient progeroid laminopathies

Mari Suzuki,
Linda J.B. Jeng,
Solomon Chefo,
...
Patroula Smpokou,
Kathleen Donohue,
Hylton V. Joffe

Published online: December 12, 2022

100335

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Articles

Standardizing variation: Scaling up clinical genomics in Australia

Standardizing variation: Scaling up clinical genomics in Australia

Stephanie Best,
Janet C. Long,
Jeffrey Braithwaite,
Natalie Taylor

Published online: January 31, 2022

100109

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Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort

Jennifer Reiner,
Lynne S. Rosenblum,
Winnie Xin,
Zhaoqing Zhou,
Hui Zhu,
Natalia Leach

Published online: December 01, 2022

100317

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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

Eissa A. Faqeih,
Malak Ali Alghamdi,
Marwa A. Almahroos,
...
Ashraf Dallol,
Majid Alfadhel,
Naif A.M. Almontashiri

Published online: November 19, 2022

100323

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COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis

Jineta Banerjee,
Jan M. Friedman,
Laura J. Klesse,
...
Scott R. Plotkin,
Robert J. Allaway,
Jaishri O. Blakeley

Published online: October 18, 2022

100324

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Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?

Mathieu Barbier,
Claire-Sophie Davoine,
Emilien Petit,
...
Christine Van Broeckhoven,
Alexis Brice,
Alexandra Durr

Published online: November 23, 2022

100327

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Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report

Priya S. Kishnani,
David Kronn,
Anaïs Brassier,
...
Atef Zaher,
Yin-Hsiu Chien
on behalf of the Mini-COMET Investigators

Published online: December 20, 2022

100328

Open Access

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Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1

Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1

Timothy M. Cox,
Joel Charrow,
Elena Lukina,
Pramod K. Mistry,
Meredith C. Foster,
M. Judith Peterschmitt

Published online: December 05, 2022

100329

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Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Ella F. Whittle,
Madison Chilian,
Ehsan Ghayoor Karimiani,
...
Reza Maroofian,
Wan Hee Yoon,
Christopher J. Carroll

Published online: December 14, 2022

100332

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Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Alina I. Esterhuizen,
Nicki Tiffin,
Gillian Riordan,
...
Raj Ramesar,
Jo M. Wilmshurst,
Gemma L. Carvill

Published online: December 08, 2022

100333

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Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions

Jennifer Hoskovec,
Emily E. Hardisty,
Asha N. Talati,
...
Shan Riku,
John R. ten Bosch,
Neeta L. Vora

Published online: December 01, 2022

100334

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Education Report

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum

Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum

Kerri Bosfield,
Jessica Albert,
Nancy Cheng,
Tiffany Swaringer,
Kristina Cusmano-Ozog,
Debra S. Regier

Published online: December 09, 2022

100340

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Corrections

Impact of integrated translational research on clinical exome sequencing

Eric W. Klee,
Margot A. Cousin,
Filippo Pinto e Vairo,
...
Lisa A. Schimmenti,
A. Keith Stewart,
Konstantinos N. Lazaridis

Published in issue: February 2023

100359

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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 in issue: February 2023

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