Author

A. Krause

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Open access Sep 2026

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease‐Causing Variants in TCOF1 and POLR1D

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, lower eyelid...

Patracia Nevondwe, M. Mudau, Heather Seymour et al. · Molecular Genetics & Genomic... · 0 citations

Jul 2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

The feasibility, effectiveness, and adaptability of implementing exome sequencing in resource-limited settings are demonstrated and its potential to transform rare disease diagnosis and care in low- and middle-income countries is highlighted.

Yasas D. Kolambage, C. Gonzaga-Jauregui, Guillermo Lay-Son et al. · Human Genetics · 0 citations

Open access Jul 2026

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

The addition of CNV analysis to the ES analysis pipeline resulted in an 8.1% increase in diagnostic yield in the DDD-Africa cohort without additional laboratory cost, which is likely to reduce analytical cost and is suitable for low- and middle-income countries where funding and resources for genomic medicine initiativ...

Nadja Louw, Prince Makay, P. Mpangase et al. · European Journal of Human Ge... · 0 citations