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Publications by Emmanuelle Masson

Toward a Clinical Diagnostic Pipeline for SPINK1 Intronic Variants

Molecular Medicine

Molecular Biology

English

RNA Secondary Structure Mediated by Alu Insertion as a Novel Disease-Causing Mechanism

English

Related publications

CAGI4 SickKids Clinical Genomes Challenge: A Pipeline for Identifying Pathogenic Variants

English

MetaNetVar: Pipeline for Applying Network Analysis Tools for Genomic Variants Analysis

Molecular Biology

English

Primer Design to Sequence Analysis - A Pipeline for a Molecular Genetic Diagnostic Laboratory

English

An Intronic Polymorphic Deletion in the PTEN Gene: Implications for Molecular Diagnostic Testing

British Journal of Cancer

Cancer Research

English

Performance of HBsAg Point-Of-Care Tests for Detection of Diagnostic Escape-Variants in Clinical Samples

Journal of Clinical Virology

Infectious Diseases

English

A New Clinical Diagnostic Matrix for Epidermolysis Bullosa

British Journal of Dermatology

English

Paraoxonase Promoter and Intronic Variants Modify Risk of Sporadic Amyotrophic Lateral Sclerosis

Journal of Neurology, Neurosurgery and Psychiatry

English

Challenges for Clinical Diagnostic Devices

Analytical Chemistry

Analytical Chemistry

English

Outcome of an Enhanced Diagnostic Pipeline for Patients Suspected of Inherited Thrombocytopenia

British Journal of Haematology

English