June 2023

Editorial Board
Published in issue: June 2023
100888

Masthead
Published in issue: June 2023
100889

Table of Contents
Published in issue: June 2023
100890

ACMG Statements

Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
• Dena R. Matalon,
• Cinthya J. Zepeda-Mendoza,
• Mahmoud Aarabi,
• ...
• Fabiola Quintero-Rivera,
• Matteo Vatta
• on behalf of the ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee
Published online: April 14, 2023
100812

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
• Loren D.M. Peña,
• Lindsay C. Burrage,
• Gregory M. Enns,
• ...
• Timothy Yu,
• Dwight D. Koeberl
• on behalf of the ACMG Therapeutics Committee
Published online: April 09, 2023
100831

Systematic Review

Microcosting diagnostic genomic sequencing: A systematic review
• Francisco Santos Gonzalez,
• Dylan Mordaunt,
• Zornitza Stark,
• Kim Dalziel,
• John Christodoulou,
• Ilias Goranitis
Published online: March 16, 2023
100829
Open Access

Articles

Validation of the International Breast Cancer Intervention Study (IBIS) model in the High Risk Ontario Breast Screening Program: A retrospective cohort study
• Jennifer D. Brooks,
• Ashley Mah,
• Rebecca A.G. Christensen,
• Jasleen Arneja,
• Andrea Eisen,
• Anna M. Chiarelli
Published online: March 12, 2023
100820
Open Access
Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives
• Sandra Soo-Jin Lee,
• Mikaella Caruncho,
• Wendy K. Chung,
• Josephine Johnston,
• Kathryn Tabb,
• Paul S. Appelbaum
Published online: March 21, 2023
100832

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features
• Jonathan C. Andrews,
• Jung-Wan Mok,
• Oguz Kanca,
• ...
• Shinya Yamamoto,
• May Christine V. Malicdan,
• Michael F. Wangler
Published online: March 31, 2023
100833

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
• Georg F. Vogel,
• Yael Mozer-Glassberg,
• Yuval E. Landau,
• ...
• Jian-She Wang,
• Daniel Weghuber,
• Saskia Wortmann
Published online: October 28, 2022
100314
Open Access

Brief Reports

Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
• Linyan Meng,
• Ruben Attali,
• Tomer Talmy,
• ...
• Christine Eng,
• Fan Xia,
• Shay Tzur
Published online: March 16, 2023
100830
The 2019 medical genetics workforce: A focus on laboratory geneticists
• Deborah R. Maiese,
• Megan Lyon,
• Honey V. Reddi,
• Miriam G. Blitzer,
• Joann N. Bodurtha,
• Maximilian Muenke
Published online: March 27, 2023
100834
Open Access

Corrections

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
• Georg F. Vogel,
• Yael Mozer-Glassberg,
• Yuval E. Landau,
• ...
• Jian-She Wang,
• Daniel Weghuber,
• Saskia Wortmannd
Published online: April 13, 2023
100828
Open Access
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants
• Rebecca A. Rojas,
• Anna A. Kutateladze,
• Lacey Plummer,
• ...
• Stephanie B. Seminara,
• William F. Crowley Jr,
• Ravikumar Balasubramanian
Published in issue: June 2023
100855