The analyses of human MCPH1 DNA repair machinery and genetic variations

Autor: Oluwole Oluwafemi G.

Publikováno v: Open Medicine, Vol 19, Iss 1, Pp 17724-32 (2024)

Causal mutations in the MCPH1 gene have been associated with disorders like microcephaly, and recently congenital hearing impairment. This study examined the MCPH1 DNA repair machinery and identified genetic variations of interest in gnomAD database

Externí odkaz: https://doaj.org/article/6d7356cd69514efe9fcb98653fb8d118

Parkinson's disease in Nigeria: A review of published studies and recommendations for future research

Autor: Oluwole, Oluwafemi G. ^a, Kuivaniemi, Helena ^a, Carr, Jonathan A. ^b, Ross, Owen A. ^c, Olaogun, Matthew O.B. ^d, Bardien, Soraya ^{a, ∗}, Komolafe, Morenikeji A. ^{e, ∗∗}

Publikováno v: In Parkinsonism and Related Disorders May 2019 62:36-43

Targeted next-generation sequencing identifies novel variants in candidate genes for Parkinson's disease in Black South African and Nigerian patients.

Autor: Oluwole, Oluwafemi G.¹ (AUTHOR), Kuivaniemi, Helena¹ (AUTHOR), Abrahams, Shameemah¹ (AUTHOR), Haylett, William L.^1,2 (AUTHOR), Vorster, Alvera A.³ (AUTHOR), van Heerden, Carel J.³ (AUTHOR), Kenyon, Colin P.^1,4,5,6 (AUTHOR), Tabb, David L.^1,4,5,6,7 (AUTHOR), Fawale, Michael B.⁸ (AUTHOR), Sunmonu, Taofiki A.⁹ (AUTHOR), Ajose, Abiodun¹⁰ (AUTHOR), Olaogun, Matthew O.¹¹ (AUTHOR), Rossouw, Anastasia C.¹² (AUTHOR), van Hillegondsberg, Ludo S.^12,13 (AUTHOR), Carr, Jonathan¹³ (AUTHOR), Ross, Owen A.^14,15 (AUTHOR), Komolafe, Morenikeji A.⁸ (AUTHOR), Tromp, Gerard^1,4,5,6,7 (AUTHOR) gctromp@sun.ac.za, Bardien, Soraya¹ (AUTHOR) sbardien@sun.ac.za

Publikováno v: BMC Medical Genetics. 2/4/2020, Vol. 21 Issue 1, p1-11. 11p.

Genomic medicine in Africa: a need for molecular genetics and pharmacogenomics experts.

Autor: Oluwole, Oluwafemi G., Henry, Marc

Publikováno v: Current Medical Research & Opinion; Jan2023, Vol. 39 Issue 1, p141-147, 7p

A cost-effective method for detecting mutations in the human FAM111B gene associated with POIKTMP syndrome.

Autor: Arowolo, Afolake^1,2 (AUTHOR), Rhoda, Cenza¹ (AUTHOR), Mbele, Mzwandile^1,2 (AUTHOR), Oluwole, Oluwafemi G.³ (AUTHOR) oluwafemi.oluwole@uct.ac.za, Khumalo, Nonhlanhla^1,2 (AUTHOR)

Publikováno v: Egyptian Journal of Medical Human Genetics. 12/25/2022, Vol. 23 Issue 1, p1-7. 7p.