Sage Journals: Discover world-class research

Open access

Review article

First published 2020

Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders?

Marco Savarese, Salla Välipakka, Mridul Johari [...]

Journal of Neuromuscular Diseases

Free access

Research article

First published 2022

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai,India

Satish Vasant Khadilkar, Hiral Amrut Halani, Rashna Dastur [...]

Journal of Neuromuscular Diseases

Open access

Case report

First published 2026

Genetic strategies for negative or variant of uncertain significance findings in exome sequencing in hereditary bronchiectasis: a case series

Wangji Zhou, Yixuan Li, Qiaoling Chen [...]

Therapeutic Advances in Respiratory Disease

Open access

Research article

First published 2023-6

Reflexive standardization and the resolution of uncertainty in the genomics clinic

Adam Hedgecoe, Kathleen Job, Angus Clarke

Social Studies of Science

Retricted access

Research article

First published 2017-12

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers

Maylis Lebeault, Stéphane Pinson, Marine Guillaud-Bataille [...]

Thyroid®

Retricted access

Research article

First published 2002-06

Clinical Interpretation and Recommendations for Patients with a Variant of Uncertain Significance in BRCA1 or BRCA2 : A Survey of Genetic Counseling Practice

Nancie Petrucelli, Noam Lazebnik, Karen M. Huelsman [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2025-9

Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay

Shaymaa Hegazy, Rana Naous

International Journal of Surgical Pathology

Retricted access

Research article

First published 2020-7

A Modern Dilemma: How Experts Grapple with Ambiguous Genetic Test Results

Courtney L. Scherr, Amy A. Ross Arguedas, Hannah Getachew-Smith [...]

Medical Decision Making

Open access

Research article

First published 2025-10

Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility

Masato Yonamine, Ryo Koyanagi, Noriyo Ishibashi [...]

Genetic Testing and Molecular Biomarkers

Retricted access

Research article

First published 2026-1

Clinical and functional evidence supporting the pathogenicity of the novel PSEN1 p.R358P variant in early-onset Alzheimer's disease

Diego E García-Chialva, Tatiana Itzcovich, Diego Cifarelli [...]

Journal of Alzheimer’s Disease

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