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

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Longitudinal kidney outcomes in surviving COVID-19 patients in Africa: a prospective Congolese single-center cohort study

非洲新冠肺炎幸存患者的肾脏长期预后:一项前瞻性刚果单中心队列研究

Nlandu, Yannick Mayamba; Makulo, Jean-Robert Rissassi; Essig, Marie; Engole, Yannick Mompango; Mboliasa, Marie-France Ingole; Nkodila, Aliocha Natuhoyila; Mokoli, Vieux Momeme; Nkondi, Clarisse Nsenga; Longo, Augustin Luzayadio; Kajingulu, François Musungayi; Ilunga, Cédric Kabemba; Zinga, Chantal Vuvu; Kadima, Evariste Mukendi; Bukabau, Justine Busanga; Ahuka, Steve Mundeke; Lumaka, Aimé; Nseka, Nazaire Mangani; Sumaili, Ernest Kiswaya

A training program to extend the reach of the deciphering developmental disorders in Africa (DDD-Africa) study

一项旨在扩大“解读非洲发育障碍”(DDD-Africa)研究影响范围的培训计划

Charles, Aaliah; Lombard, Zané; Carstens, Nadia; Goliath, Zandisiwe; Lumaka, Aimé; Makay, Prince; Louw, Nadja; Kerr, Robyn; Govender, Daniesha; Krause, Amanda; Devriendt, Koenraad

Genetic evaluation of patients with multiple primary cancers

多原发性癌症患者的基因评估

Freire, Maria Valeria; Thissen, Romain; Martin, Marie; Fasquelle, Corinne; Helou, Laura; Durkin, Keith; Artesi, Maria; Lumaka, Aimé; Leroi, Natacha; Segers, Karin; Deberg, Michelle; Gatot, Jean-Stéphane; Habran, Lionel; Palmeira, Leonor; Josse, Claire; Bours, Vincent

Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes

刚果民主共和国镰状细胞贫血患者生物学表达多样性的遗传调节因子:βs-珠蛋白单倍型的作用

Ngole, Mamy; Mbayabo, Gloire; Lumbala, Paul; Race, Valerie; Mvuama, Nono; Deman, Stephanie; Souche, Erika; Lukusa, Prosper Tshilobo; Van Geet, Chris; Devriendt, Koenraad; Matthijs, Gert; Lumaka, Aimé; Cleynen, Isabelle

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature

刚果患者合并镰状细胞贫血的格雷格头面多指畸形邻近基因综合征及其文献综述

Makay, Prince; Fasquelle, Corinne; Mubungu, Gerrye; Ekolo, Esther; Mupuala, Aimée; Fuanani, Patrick; Sonet, Ines; Charloteaux, Benoît; Palmeira, Leonor; Gatot, Jean-Stéphane; Lukusa Tshilobo, Prosper; Bours, Vincent; Devriendt, Koenraad; Lumaka, Aimé

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform

ClinGen变异管理界面研讨会:在国际平台上培训变异科学家

Ritter, D I; Mandell, M; Preston, C; DiStefano, M; Bryant, S M; Carstens, N; Julius, R S; Lumaka, A; Hedge, M; Ngeow, J; Morales, J; Wright, M W; Rehm, H L; Plon, S E

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann