1 Sept 2026Open access
Phenotypic and transcriptomic characterization of biallelic RNU2‐2 developmental and epileptic encephalopathyPublisher siteEpilepsia, Genomics and Rare Diseases
Active, last published 2026
In genomics and rare diseases
Samuel Agyei
Wiafe
Scholar“Research focused on Genomics and Rare Diseases and adjacent fields.”
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01 · About the work
What I study
amuel Agyei Wiafe 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
Samuel's work has been cited 1,854 times across 3 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×19BRCA gene mutations in cancer×5Genomic variations and chromosomal abnormalities×4Cystic Fibrosis Research Advances×3Genetic factors in colorectal cancer×3
04 · Where I am
Affiliations
Affiliation on published researchUniversity of Health and Allied Sciences, GhanaDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
9 works30 Mar 2026Open access
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyPublisher siteNature Genetics, Genomics and Rare Diseases
23 Feb 2026Open access
Phenotypic and transcriptomic characterisation of a novel biallelic <i>RNU2-2</i> developmental and epileptic encephalopathyPublisher sitemedRxiv, Genomics and Rare Diseases
8 Apr 2025Open access4cites
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare diseasePublisher siteHuman Genetics and Genomics Advances, Genomics and Rare Diseases
26 Feb 2025Open access3cites
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutionsPublisher siteFrontiers in Public Health, Genomics and Rare Diseases
26 Sept 2023Open access18cites
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicatorsPublisher siteFrontiers in Public Health, Health Systems, Economic Evaluations, Quality of Life
4 Aug 2023Open access
The impact of clinical genome sequencing in a global population of patients with suspected rare genetic diseasePublisher siteResearch Square, Genomics and Rare Diseases
2 Mar 2023Open access22cites
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network InternationalPublisher siteFrontiers in Public Health, Genomics and Rare Diseases
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