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Genetics in Medicine - ResearchHub

Journal

Genetics in Medicine

1098-3600 · Elsevier BV

6 verified public works

Browse all journals →

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

2026 · 0 citations

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

2026 · 0 citations

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

2026 · 0 citations

Mainstreaming genetic testing: Evaluation of the Australian Familial Melanoma Clinic

2026 · 0 citations

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

2026 · 0 citations

Identification of novel CDK19 variants and Drosophila-based in vivo functional evidence supporting pathogenicity in neurodevelopmental disorders

2026 · 0 citations

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