8 Jul 2026
Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot projectPublisher siteHuman Genetics, Genomics and Rare Diseases
Active, last published 2026
In genomics and rare diseases
Bronwyn
Dillon
Scholar“Research focused on Genomics and Rare Diseases and adjacent fields.”
University of the Witwatersrand
South Africa3
H-index
25
Citations
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01 · About the work
What I study
ronwyn Dillon is a researcher working on Genomics and Rare Diseases. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Bronwyn's work has been cited 25 times across 2 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Genomics and Rare Diseases×3Genomic variations and chromosomal abnormalities×2Immunodeficiency and Autoimmune Disorders×2Neurogenetic and Muscular Disorders Research×2
04 · Where I am
Affiliations
Affiliation on published researchNational Health Laboratory Service, South AfricaDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
5 works30 Dec 2024Open access
First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10pPublisher siteEgyptian Journal of Medical Human Genetics, Congenital heart defects research
30 Jul 2024Open access1cites
Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patientsPublisher siteEuropean Journal of Human Genetics, Immunodeficiency and Autoimmune Disorders
1 Jun 2024Open access8cites
STAC3 disorder: a common cause of congenital hypotonia in Southern African patientsPublisher siteEuropean Journal of Human Genetics, Immunodeficiency and Autoimmune Disorders
26 Mar 2024Open access4cites
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotypePublisher siteFrontiers in Genetics, Neurofibromatosis and Schwannoma Cases
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