Stephanie R Johnson (Stephanie Johnson, S R Johnson)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 7

Top Topics

Neuroendocrine Tumors

Cardiovascular Disease

Klebsiella Pneumoniae

Top Venues

Pediatric diabetes

Journal of diabetes

Journal of the Endocrine Society

This page only lists publications with an associated author ORCID identifier.

Publications

Stephanie R Johnson, Hannah E Carter, Paul Leo, Samantha A Hollingworth, Elizabeth A Davis, Timothy W Jones, Louise S Conwell, Mark Harris, Matthew A Brown, Nicholas Graves, Emma L Duncan
Response to Comment on Johnson et al. 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. Diabetes Care 2019;42:69-76. Diabetes care 42 (5) (2019)
Stephanie R Johnson, P J Leo, A M McInerney-Leo, L K Anderson, M Marshall, I McGown, F Newell, M A Brown, L S Conwell, M Harris, E L Duncan
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatric diabetes 19 (4) (2018)
Stephanie R Johnson, Jonathan J Ellis, Paul J Leo, Lisa K Anderson, Uma Ganti, Jessica E Harris, Jacqueline A Curran, Aideen M McInerney-Leo, Nirubasini Paramalingam, Xiaoxia Song, Louise S Conwell, Mark Harris, Timothy W Jones, Matthew A Brown, Elizabeth A Davis, Emma L Duncan
Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatric diabetes 20 (1) (2018)
Stephanie R Johnson, Paul Leo, Louise S Conwell, Mark Harris, Matthew A Brown, Emma L Duncan
Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): A novel ABCC8 mutation in a previously screened family. Journal of diabetes 10 (9) (2018)
Avinaash V Maharaj, Federica Buonocore, Eirini Meimaridou, Gerard Ruiz-Babot, Leonardo Guasti, Hwei-Ming Peng, Cameron P Capper, Neikelyn Burgos-Tirado, Rathi Prasad, Claire R Hughes, Ashwini Maudhoo, Elizabeth C Crowne, Timothy D Cheetham, Caroline E Brain, Jenifer P Suntharalingham, Niccolò Striglioni, Bilgin Yuksel, Fatih Gurbuz, Sangay Gupta, Robert S Lindsay, Robert Couch, Helen A Spoudeas, Tülay Güran, Stephanie R Johnson, Dallas J Fowler, Louise S Conwell, Aideen M McInerney-Leo, Delphine Drui, Bertrand Cariou, Juan Pedro López-Siguero, Mark Harris, Emma L Duncan, Peter C Hindmarsh, Richard J Auchus, Malcolm D Donaldson, John C Achermann, Louise A Metherell
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. Journal of the Endocrine Society 3 (1) (2018)
Stephanie R Johnson, Hannah E Carter, Paul Leo, Samantha A Hollingworth, Elizabeth A Davis, Timothy W Jones, Louise S Conwell, Mark Harris, Matthew A Brown, Nicholas Graves, Emma L Duncan
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. Diabetes care 42 (1) (2018)
Stephanie R Johnson, Ivan McGown, Udo Oppermann, Louise S Conwell, Mark Harris, Emma L Duncan
A novel INS mutation in a family with maturity-onset diabetes of the young: Variable insulin secretion and putative mechanisms. Pediatric diabetes 19 (5) (2018)