Stephanie R Johnson

7PUBLICATIONS
34CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyGene mappingMolecular evolutionGenetic immunology
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Publications (7)

|Jan 09, 2019
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Avinaash Maharaj, Federica Buonocore, Eirini Meimaridou

|Dec 08, 2018
Cost-effectiveness Analysis of Routine Screening Using Massively Parallel Sequencing for Maturity-Onset Diabetes of the Young in a Pediatric Diabetes Cohort: Reduced Health System Costs and Improved Patient Quality of Life.

Stephanie R Johnson, Hannah E Carter, Paul Leo

|Sep 08, 2018
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Stephanie R Johnson, Jonathan J Ellis, Paul J Leo

|Apr 11, 2018
A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms.

Stephanie R Johnson, Ivan McGown, Udo Oppermann

|Feb 09, 2018
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.

S R Johnson, P J Leo, A M McInerney-Leo

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Frequent Collaborators

3 joint publications

Timothy W Jones

3 joint publications

Emma L Duncan

1 joint publications

Avinaash Maharaj

1 joint publications

Federica Buonocore