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

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

通过外显子组测序进行拷贝数变异分析是优化发育障碍诊断率的有效方法——DDD-Africa 研究

Louw, Nadja; Makay, Prince; Mpangase, Phelelani T; Naicker, Thirona; Yates, Laura M; Honey, Engela; Mbungu, Gerrye; Van Den Bogaert, Kris; Firth, Helen V; Hurles, Matthew E; Tshilobo, Prosper Lukusa; Devriendt, Koen; Krause, Amanda; Carstens, Nadia; Lumaka, Aimé; Lombard, Zané

STAC3 disorder: a common cause of congenital hypotonia in Southern African patients

STAC3 疾病:南部非洲患者先天性肌张力低下的常见病因

Essop, Fahmida; Dillon, Bronwyn; Mhlongo, Felicity; Bhengu, Louisa; Naicker, Thirona; Lambie, Lindsay; Smit, Liani; Fieggen, Karen; Lochan, Anneline; Dawson, Jessica; Mpangase, Phelelani; Hauptfleisch, Marc; Scher, Gail; Tabane, Odirile; Immelman, Marelize; Urban, Michael; Krause, Amanda

The Spectrum of Epidermolysis Bullosa in KwaZulu-Natal, South Africa

南非夸祖鲁-纳塔尔省大疱性表皮松解症的谱系

Chateau, Antoinette; Naicker, Thirona; Bruce-Brand, Cassandra; Schneider, Johann; Aldous, Colleen; Dlova, Ncoza; Cheng, Hui-Ching; Lin, Pei-Chi; Huang, Hsin-Yu; Hsu, Chao-Kai; McGrath, John A

Consensus statements for the biopsychosocial care of patients with epidermolysis bullosa South Africa: Part 2

南非大疱性表皮松解症患者生物心理社会护理共识声明:第二部分

Chateau, Antoinette V; Blackbeard, David; Hlela, Carol; Wege, Martie; Armour, Anne; Naicker, Thirona; Dlova, Ncoza; Foolchand, Serantha; Chetty, Angela; Ainsworth, Sarah; Shaw, Cassidy-Mae; Lachman, Reshmee; Kruse, Carl-Heinz; Rajkumar, Kavir; Mare, Pieter; Mchiza, Andile; Shanahan, Heidi; Roberts, Toni; Kauchali, Shuaib; Aldous, Colleen

Consensus statements for the transdisciplinary care of patients with epidermolysis bullosa in South Africa: Part 1

南非表皮松解性大疱症患者跨学科诊疗共识声明:第一部分

Chateau, Antoinette V; Hlela, Carol; Dlova, Ncoza; Isaacs, Thuraya; Naicker, Thirona; Nupen, Tracey; Ambler, Julia; Maruma, Frans; Pillay, Lushen; Mankahla, Avumile; Moosa, Fatima; Makhubele, Jabulile; Lehloenya, Rannakoe; Visser, Willem I; Velazquez, Caridad; Cameron-Mackintosh, Sinead; Todd, Gail; Blackbeard, David; Aldous, Colleen

Rare variants analyses suggest novel cleft genes in the African population

罕见变异分析表明,非洲人群中存在新的唇腭裂基因

Alade, Azeez; Mossey, Peter; Awotoye, Waheed; Busch, Tamara; Oladayo, Abimbola M; Aladenika, Emmanuel; Olujitan, Mojisola; Wentworth, Emma; Anand, Deepti; Naicker, Thirona; Gowans, Lord J J; Eshete, Mekonen A; Adeyemo, Wasiu L; Zeng, Erliang; Van Otterloo, Eric; O'Rorke, Michael; Adeyemo, Adebowale; Murray, Jeffrey C; Cotney, Justin; Lachke, Salil A; Romitti, Paul; Butali, Azeez

Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate

AFDN基因的有害突变会增加非综合征性唇裂(伴或不伴腭裂)的风险。

Awotoye, Waheed; Mossey, Peter A; Hetmanski, Jacqueline B; Gowans, Lord J J; Eshete, Mekonen A; Adeyemo, Wasiu L; Alade, Azeez; Zeng, Erliang; Adamson, Olawale; James, Olutayo; Fashina, Azeez; Ogunlewe, Modupe O; Naicker, Thirona; Adeleke, Chinyere; Busch, Tamara; Li, Mary; Petrin, Aline; Oladayo, Abimbola; Kayali, Sami; Olotu, Joy; Sule, Veronica; Hassan, Mohaned; Pape, John; Aladenika, Emmanuel T; Donkor, Peter; Arthur, Fareed K N; Obiri-Yeboah, Solomon; Sabbah, Daniel K; Agbenorku, Pius; Ray, Debashree; Plange-Rhule, Gyikua; Oti, Alexander Acheampong; Albokhari, Daniah; Sobreira, Nara; Dunnwald, Martine; Beaty, Terri H; Taub, Margaret; Marazita, Mary L; Adeyemo, Adebowale A; Murray, Jeffrey C; Butali, Azeez

Novel IRF6 variant in orofacial cleft patients from Durban, South Africa

南非德班唇腭裂患者中发现新型IRF6变异体

Naicker, Thirona; Alade, Azeez; Adeleke, Chinyere; Mossey, Peter A; Awotoye, Waheed A; Busch, Tamara; Li, Mary; Olotu, Joy; Aldous, Colleen; Butali, Azeez

Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts

来自撒哈拉以南非洲130个非综合征性唇腭裂家庭的三联体中具有临床意义的次要发现

Oladayo, Abimbola; Gowans, Lord Jephthah Joojo; Awotoye, Waheed; Alade, Azeez; Busch, Tamara; Naicker, Thirona; Eshete, Mekonen A; Adeyemo, Wasiu L; Hetmanski, Jacqueline B; Zeng, Erliang; Adamson, Olawale; Adeleke, Chinyere; Li, Mary; Sule, Veronica; Kayali, Sami; Olotu, Joy; Mossey, Peter A; Obiri-Yeboah, Solomon; Buxo, Carmen J; Beaty, Terri; Taub, Margaret; Donkor, Peter; Marazita, Mary L; Odukoya, Oluwakemi; Adeyemo, Adebowale A; Murray, Jeffrey C; Prince, Anya; Butali, Azeez

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate

全基因组测序揭示与非综合征型唇腭裂相关的新生突变

Awotoye, Waheed; Mossey, Peter A; Hetmanski, Jacqueline B; Gowans, Lord J J; Eshete, Mekonen A; Adeyemo, Wasiu L; Alade, Azeez; Zeng, Erliang; Adamson, Olawale; Naicker, Thirona; Anand, Deepti; Adeleke, Chinyere; Busch, Tamara; Li, Mary; Petrin, Aline; Aregbesola, Babatunde S; Braimah, Ramat O; Oginni, Fadekemi O; Oladele, Ayodeji O; Oladayo, Abimbola; Kayali, Sami; Olotu, Joy; Hassan, Mohaned; Pape, John; Donkor, Peter; Arthur, Fareed K N; Obiri-Yeboah, Solomon; Sabbah, Daniel K; Agbenorku, Pius; Plange-Rhule, Gyikua; Oti, Alexander Acheampong; Gogal, Rose A; Beaty, Terri H; Taub, Margaret; Marazita, Mary L; Schnieders, Michael J; Lachke, Salil A; Adeyemo, Adebowale A; Murray, Jeffrey C; Butali, Azeez