Accès ouvert
2026
article
OpenAlex
Patracia Nevondwe, Maria Mudau, Heather Seymour, Robyn Kerr et autres
BACKGROUND: Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterised by variable expressivity. It is caused by pathogenic variants in the TCOF1, POLR1D, POLR1C, or POLR1B genes. Common clinical features include hypoplasia of the zygomatic complex and mandible, downward-slanting palpebral fissures, …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Nadja Louw, Samantha Schnell, Mhlekazi Molatoli, Ingrid Smit et autres
BACKGROUND: Exome sequencing (ES) is now widely accepted as an appropriate first-tier diagnostic test for developmental disorders (DD). International guidelines recommend that in diagnostic settings, ES findings be validated with an orthogonal method, such as Sanger sequencing, before reporting. However, more recent …
Afrique du Sud, be, République démocratique du Congo
(code pays fourni par la source)
Accès ouvert
2026
review
OpenAlex
Jennifer G.R. Kromberg, Robyn Kerr
Oculocutaneous albinism (OCA) is a recessively inherited condition which affects about 1 in 5,000 people in Africa. The depigmentation of the skin and hair is very striking, unusual and unexpected, and stigmatisation has been ongoing for centuries. This narrative review asked: How …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Zané Lombard, Nadia Carstens, Zandisiwe Goliath, Aimé Lumaka et autres
Developmental disorders (DD), including intellectual disability (ID) and birth defects, affect approximately 7% of individuals worldwide, contributing to high mortality and lifelong morbidity. These disorders impose significant financial and psychological burdens on affected families. Genetic causes are identified in over 40% of …
Afrique du Sud, République démocratique du Congo, us, be
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Jennifer G.R. Kromberg, Robyn Kerr
Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971-2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Ahmed Rebaï, Pamela Andanda, Robyn Kerr, Kobus Herbst et autres
International collaboration in genomic research is gaining momentum in African countries and is often supported by external funding. Over the last decade, there has been an increased interest in African genomic data. The contribution of this rich data resource in understanding diseases …
Tunisie, Afrique du Sud, Nigéria, us, Tanzanie
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Ahmed Rebaï, Pamela Andanda, Daima Bukini, Robyn Kerr et autres
International collaboration in genomic research is gaining momentum in African countries and is often supported by external funding. Over the last decade there has been an increased interest in African genomic data. The contribution of this rich data resource in understanding diseases …
Tunisie, Afrique du Sud, Tanzanie, Kenya, us
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Heather Seymour, Candice Feben, Patracia Nevondwe, Robyn Kerr et autres
BACKGROUND: Cornelia de Lange Syndrome (CdLS) presents with a variable multi-systemic phenotype and pathogenic variants have been identified in five main genes. This condition has been understudied in African populations with little phenotypic and molecular information available. METHODS AND RESULTS: We present …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Maria Mabyalwa Mudau, Heather Seymour, Patracia Nevondwe, Robyn Kerr et autres
Timely and accurate diagnosis of rare genetic disorders is critical, as it enables improved patient management and prognosis. In a resource-constrained environment such as the South African State healthcare system, the challenge is to design appropriate and cost-effective assays that will enable …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2023
review
OpenAlex
Jennifer G.R. Kromberg, Kaitlyn Flynn, Robyn Kerr
Purpose: The aim of this systematic review was to investigate the available data on the epidemiology of oculocutaneous albinism (OCA) around the world, and to determine whether a generalizable, worldwide prevalence figure could be proposed. Methods: Extensive literature search strategies were conducted, …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Jennifer G.R. Kromberg, Robyn Kerr
Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about …
Afrique du Sud
(code pays fourni par la source)
Accès ouvert
2022
article
OpenAlex
Claudine Nkera-Gutabara, Robyn Kerr, Janine Scholefield, Scott Hazelhurst et autres
Limited access to technologies that support early monitoring of disease risk and a poor understanding of the geographically unique biological and environmental factors underlying disease, represent significant barriers to improved health outcomes and precision medicine efforts in low to middle income countries. …
Afrique du Sud
(code pays fourni par la source)