Samuel A. Wiafe

Accra, AA, Ghana

Last Updated: 09/26/2026

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Found 15 publications

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Phenotypic and transcriptomic characterization of biallelic RNU2-2 developmental and epileptic encephalopathy.

Journal: Epilepsia

Published: February 25, 2026

Optimizing coagulation efficiency in surface water treatment using response surface method.

Optimizing coagulation efficiency in surface water treatment using response surface method.

Journal: Journal of environmental science and health. Part A, Toxic/hazardous substances & environmental engineering

Published: December 04, 2025

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Journal: Nature genetics

Published: September 02, 2025

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.

Journal: HGG advances

Published: January 14, 2025

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.

Journal: Frontiers in public health

Published: October 26, 2024

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.

Journal: Nature genetics

Published: October 21, 2024

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

The impact of clinical genome sequencing in a global population with suspected rare genetic disease.

Journal: American journal of human genetics

Published: November 27, 2023

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology in 2024: phenotypes around the world.

Journal: Nucleic acids research

Published: September 13, 2023

Global health for rare diseases through primary care.

Global health for rare diseases through primary care.

Journal: The Lancet. Global health

Published: September 01, 2023

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.

Journal: Frontiers in public health

Published: June 26, 2023

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.

Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.

Journal: Frontiers in public health

Published: October 25, 2022

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Unlocking sociocultural and community factors for the global adoption of genomic medicine.

Journal: Orphanet journal of rare diseases

Published: March 04, 2022

Showing 1-12 of 15

Last Updated: 09/26/2026