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Publications by Sue Jean Mun

Whole-Exome Sequencing Identifies a Novel Genotype-Phenotype Correlation in the Entactin Domain of the Known Deafness Gene TECTA

Multidisciplinary

English

Related publications

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

English

Exome Sequencing of Fetal Anomaly Syndromes: Novel Phenotype–genotype Discoveries

European Journal of Human Genetics

English

Phenotype/Genotype Correlation in a Case Series of Stargardt’s Patients Identifies Novel Mutations in the ABCA4 Gene

Sensory Systems

English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

English

A Stroke Gene Panel for Whole-Exome Sequencing

European Journal of Human Genetics

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

Molecular Biology

English

Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer

International Journal of Molecular Sciences

Organic Chemistry

Molecular Biology

Theoretical Chemistry

Inorganic Chemistry

Computer Science Applications

English

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Nature Communications

Molecular Biology

English

Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease

Arthritis and Rheumatology

English