日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Mapping epigenetic gene variant dynamics: comparative analysis of frequency, functional impact and trait associations in African and European populations

绘制表观遗传基因变异动态图谱:非洲和欧洲人群中变异频率、功能影响和性状关联的比较分析

Sinkala, Musalula; Retshabile, Gaone; Mpangase, Phelelani T; Bamba, Salia; Goita, Modibo K; Nembaware, Victoria; Elsheikh, Samar S M; Heckmann, Jeannine; Esoh, Kevin; Matshaba, Mogomotsi; Adebamowo, Clement A; Adebamowo, Sally N; Amih, Ofon Elvis; Landoure, Guida; Wonkam, Ambroise; Ramsay, Michele; Mulder, Nicola

The Sickle Africa Data Coordinating Centre (SADaCC): a data science hub for interdisciplinary sickle cell disease research and training

镰状细胞非洲数据协调中心(SADaCC):一个跨学科镰状细胞病研究和培训的数据科学中心

Wonkam, Ambroise; Munung, Nchangwi Syntia; Jonas, Mario; Mupfurirwa, Wilson; Nguweneza, Arthemon; Esoh, Kevin; Oosterwyk-Liu, Chandre; Magangana, Zimkita; Mnika, Khuthala; Bitoungui, Valentina Ngo; Kamkuemah, Martha; Banda, Kambe; Samie, Nabeelah; Hotchkis, Jade; Nembaware, Victoria; Kengne, Andre-Pascal; Mulder, Nicola

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss.

通过外显子组测序在加纳近亲多重家族中鉴定出双等位基因 MARVELD2 变异,该家族表现出非综合征性听力损失

Twumasi Aboagye Elvis, Adadey Samuel Mawuli, Alves de Souza Rios Leonardo, Esoh Kevin K, Wonkam-Tingang Edmond, Xhakaza Lettilia, De Kock Carmen, Schrauwen Isabelle, Amenga-Etego Lucas, Lang Dirk, Awandare Gordon A, Leal Suzanne M, Mowla Shaheen, Wonkam Ambroise

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

全外显子组测序揭示了马里听力障碍的已知基因和候选基因

Yalcouyé Abdoulaye, Schrauwen Isabelle, Traoré Oumou, Bamba Salia, Aboagye Elvis Twumasi, Acharya Anushree, Bharadwaj Thashi, Latanich Rachel, Esoh Kevin, Fortes-Lima Cesar A, de Kock Carmen, Jonas Mario, Maiga Alassane Dit Baneye, Cissé Cheick A K, Sangaré Moussa A, Guinto Cheick O, Landouré Guida, Leal Suzanne M, Wonkam Ambroise

Acceptability, barriers and facilitators of using dried blood spots-point-of-care testing for sickle cell disease in Africa: an implementation science protocol for a multinational qualitative study

在非洲使用干血斑即时检测镰状细胞病的可接受性、障碍和促进因素:一项多国定性研究的实施科学方案

Nnodu, Obiageli Eunice; Munung, Nchangwi Syntia; Chirande, Lulu; Chunda-Liyoka, Catherine; Kiguli, Sarah; Sarfo, Fred Stephen; Touré, Boubacari Ali; Balandya, Emmanuel; Guindo, Aldiouma; Kuona, Patience; Esoh, Kevin; Jonas, Mario; Nwegbu, Maxwell; Masamu, Upendo; Morrice, Jack; Moru, Patrick Ohiani; Bitoungui, Valentina Ngo; Nembaware, Victoria; Nkya, Siana; Tshilolo, Léon; Makani, Julie; Wonkam, Ambroise; Peprah, Emmanuel

Mapping Epigenetic Gene Variant Dynamics: Comparative Analysis of Frequency, Functional Impact and Trait Associations in African and European Populations

绘制表观遗传基因变异动态图谱:非洲和欧洲人群中变异频率、功能影响和性状关联的比较分析

Sinkala, Musalula; Retshabile, Gaone; Mpangase, Phelelani T; Bamba, Salia; Goita, Modibo K; Nembaware, Vicky; Elsheikh, Samar S M; Heckmann, Jeannine; Esoh, Kevin; Matshaba, Mogomotsi; Adebamowo, Clement A; Adebamowo, Sally N; Amih, Ofon Elvis; Wonkam, Ambroise; Ramsay, Michele; Mulder, Nicola

Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon

全基因组关联研究在喀麦隆发现了新的疟疾抗性候选基因

Esoh, Kevin K; Apinjoh, Tobias O; Amambua-Ngwa, Alfred; Nyanjom, Steven G; Chimusa, Emile R; Amenga-Etego, Lucas; Wonkam, Ambroise; Achidi, Eric A

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

对加纳家族进行外显子组测序,揭示了已知的和候选的听力障碍基因

Wonkam, Ambroise; Adadey, Samuel Mawuli; Schrauwen, Isabelle; Aboagye, Elvis Twumasi; Wonkam-Tingang, Edmond; Esoh, Kevin; Popel, Kalinka; Manyisa, Noluthando; Jonas, Mario; deKock, Carmen; Nembaware, Victoria; Cornejo Sanchez, Diana M; Bharadwaj, Thashi; Nasir, Abdul; Everard, Jenna L; Kadlubowska, Magda K; Nouel-Saied, Liz M; Acharya, Anushree; Quaye, Osbourne; Amedofu, Geoffrey K; Awandare, Gordon A; Leal, Suzanne M

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

加纳听力障碍中GJB2-p.(Arg143Trp)创始变异的年龄估计表明,该变异在不同人群中具有多个独立的起源。

Aboagye, Elvis Twumasi; Adadey, Samuel Mawuli; Esoh, Kevin; Jonas, Mario; de Kock, Carmen; Amenga-Etego, Lucas; Awandare, Gordon A; Wonkam, Ambroise

Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review

非洲夏科-马里-图斯病现状:系统性综述

Yalcouyé, Abdoulaye; Esoh, Kevin; Guida, Landouré; Wonkam, Ambroise