Gerrye Mubungu

Kinshasa, KN, Democratic Republic of the Congo

Last Updated: 09/26/2026

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Found 22 publications

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders-the DDD-Africa study.

Journal: European journal of human genetics : EJHG

Published: January 21, 2026

Enriching African genome representation through the AGenDA project.

Enriching African genome representation through the AGenDA project.

Journal: Nature

Published: April 23, 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

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.

Journal: Clinical dysmorphology

Published: January 14, 2025

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).

Journal: Annals of human genetics

Published: October 17, 2024

Automated Evaluation of D-Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders.

Automated Evaluation of D-Score for Facial Dysmorphism Analysis in Central African Children With Developmental Disorders.

Journal: Annals of human genetics

Published: September 28, 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

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.

Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects.

Journal: European journal of medical genetics

Published: December 07, 2022

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Journal: Orphanet journal of rare diseases

Published: March 09, 2022

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

Journal: American journal of medical genetics. Part A

Published: December 20, 2021

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.

Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.

Journal: American journal of medical genetics. Part A

Published: October 21, 2021

The status of emergency obstetric and newborn care in post-conflict eastern DRC: a facility-level cross-sectional study.

The status of emergency obstetric and newborn care in post-conflict eastern DRC: a facility-level cross-sectional study.

Journal: Conflict and health

Published: December 04, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026