Genetics in medicine : official journal of the American College of Medical Genetics

01 13 October 2026

DOI 10.1016/j.gim.2026.102769

Integrative long-read sequencing, RNA-seq and machine learning framework characterizes and predicts autosomal silencing in unbalanced X-autosome translocations

Open DOI

Bianca P. Favilla, Ahmed Al-Rikabi, Paula Asprino et al.

02 12 October 2026

DOI 10.1016/j.gim.2026.102770

“TRACEBACK has probably saved my life”: experiences of being notified about clinically significant cancer genetic information by the Australian TRACEBACK program

Open DOI

Anishka Abeysinghe, Rachel Delahunty, Mary-Anne Young et al.

03 12 October 2026

DOI 10.1016/j.gim.2026.102768

Epigenomic correlates of co-morbid psychosis in 22q deletion syndrome

Open DOI

Alexander S. Byrne, Sarah J. Goodman, Hannah Nie et al.

04 10 October 2026

DOI 10.1016/j.gim.2026.102755

A budget impact analysis for the addition of rare disease genes to secondary findings screening during genome-wide sequencing

Open DOI

Nicola Kopac, Nick Dragojlovic, Elisabet Rodriguez Llorian et al.

05 10 October 2026

DOI 10.1016/j.gim.2026.102753

Birt-Hogg-Dubé syndrome, prevalence of identified cases according to clinical indication in a cohort of 1,084 patients with genetic analysis

Open DOI

Agathe Hercent, Ibrahima Ba, Jerôme Lamoril et al.

06 8 October 2026

DOI 10.1016/j.gim.2026.102750

Individuals heterozygous for LTBP2 loss-of-function variants have an increased risk of adult-onset primary open-angle glaucoma

Open DOI

Mauricio Garcia, Yuyang Luo, Jyoti Lama et al.

07 5 October 2026

DOI 10.1016/j.gim.2026.102746

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity

Open DOI

Daria Gorodilova, Tatiana Markova, Vladimir Kenis et al.

08 3 October 2026

DOI 10.1016/j.gim.2026.102740

Mainstreaming general genetics referrals: measuring the impact on wait times in a general genetics practice

Open DOI

Rachelle Dinchong, Stefani Evans, Melanie Guy et al.

09 3 October 2026

DOI 10.1016/j.gim.2026.102741

Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and neurodevelopmental features

Open DOI

Júlia Huguet Herrero, Pauline Arnaud, Angelique Bibimbou et al.

10 1 October 2026

DOI 10.1016/j.gim.2026.102721

CHARGE free cascade genetic testing: Effectiveness and implementation outcomes from a hybrid type I feasibility trial

Open DOI

Sukh Makhnoon, Nandana D. Rao, Grace Getchell et al.