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ScienceDirect Publication: Genetics in Medicine
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Last updated 11 months ago
Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
11 months ago
Publication date: November 2025Source: Genetics in Medicine, Volume 27, Issue 11Author(s): Joanne...
Toward Ethical Provenance Tracking: The GA4GH Model Data Access Agreement (DAA)
11 months ago
Publication date: Available online 1 October 2025Source: Genetics in MedicineAuthor(s): Alexander Bernier...
Real-world effects of using gnomAD 4.1.0 and AllofUs population reference datasets on reporting of variants of uncertain significance
11 months ago
Publication date: Available online 30 September 2025Source: Genetics in MedicineAuthor(s): Runjun D...
The Clinical Utility of Systematic Reporting of Secondary Findings in Prenatal Diagnosis
11 months ago
Publication date: Available online 30 September 2025Source: Genetics in MedicineAuthor(s): Kaili Yin...
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
11 months ago
Publication date: Available online 1 October 2025Source: Genetics in MedicineAuthor(s): Katharina Valentin...
Overcoming treatment implementation barriers for individuals with rare diseases using single-case experimental designs
11 months ago
Publication date: Available online 29 September 2025Source: Genetics in MedicineAuthor(s): Annelieke R...
HCSeeker: A Classification Tool for Human Genetic Variant Hot and Cold Spots Designed for PM1 and Benign Criteria in the ACMG-AMP Guideline
12 months ago
Publication date: Available online 25 September 2025Source: Genetics in MedicineAuthor(s): Xinpan Yuan...
Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
12 months ago
Publication date: Available online 23 September 2025Source: Genetics in MedicineAuthor(s): Mehdi Benkirane...
Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set
12 months ago
Publication date: Available online 23 September 2025Source: Genetics in MedicineAuthor(s): Ruben J...
Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience.
12 months ago
Publication date: Available online 23 September 2025Source: Genetics in MedicineAuthor(s): Neha Regmi...
Comprehensive Genotypic, Phenotypic, and Biochemical Characterization of GOT2 Deficiency: A Progressive Neurodevelopmental Disorder with Epilepsy and Abnormal Movements
12 months ago
Publication date: Available online 23 September 2025Source: Genetics in MedicineAuthor(s): Hannah M...
Editorial Board
12 months ago
Publication date: October 2025Source: Genetics in Medicine, Volume 27, Issue 10Author(s):