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

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

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

临床基因组测序对全球疑似罕见遗传疾病人群的影响

Thorpe, Erin; Williams, Taylor; Shaw, Chad; Chekalin, Evgenii; Ortega, Julia; Robinson, Keisha; Button, Jason; Jones, Marilyn C; Campo, Miguel Del; Basel, Donald; McCarrier, Julie; Keppen, Laura Davis; Royer, Erin; Foster-Bonds, Romina; Duenas-Roque, Milagros M; Urraca, Nora; Bosfield, Kerri; Brown, Chester W; Lydigsen, Holly; Mroczkowski, Henry J; Ward, Jewell; Sirchia, Fabio; Giorgio, Elisa; Vaux, Keith; Salguero, Hildegard Peña; Lumaka, Aimé; Mubungu, Gerrye; Makay, Prince; Ngole, Mamy; Lukusa, Prosper Tshilobo; Vanderver, Adeline; Muirhead, Kayla; Sherbini, Omar; Lah, Melissa D; Anderson, Katelynn; Bazalar-Montoya, Jeny; Rodriguez, Richard S; Cornejo-Olivas, Mario; Milla-Neyra, Karina; Shinawi, Marwan; Magoulas, Pilar; Henry, Duncan; Gibson, Kate; Wiafe, Samuel; Jayakar, Parul; Salyakina, Daria; Masser-Frye, Diane; Serize, Arturo; Perez, Jorge E; Taylor, Alan; Shenbagam, Shruti; Abou Tayoun, Ahmad; Malhotra, Alka; Bennett, Maren; Rajan, Vani; Avecilla, James; Warren, Andrew; Arseneault, Max; Kalista, Tasha; Crawford, Ali; Ajay, Subramanian S; Perry, Denise L; Belmont, John; Taft, Ryan J

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group

增加非洲基因组数据的生成和共享,以解决非洲罕见病和未确诊疾病问题:H3Africa罕见病工作组的行动呼吁

Lumaka, Aimé; Carstens, Nadia; Devriendt, Koenraad; Krause, Amanda; Kulohoma, Benard; Kumuthini, Judit; Mubungu, Gerrye; Mukisa, John; Nel, Melissa; Olanrewaju, Timothy O; Lombard, Zané; Landouré, Guida

The status of emergency obstetric and newborn care in post-conflict eastern DRC: a facility-level cross-sectional study

刚果民主共和国冲突后东部地区紧急产科和新生儿护理现状:一项机构层面的横断面研究

Mizerero, Serge-André; Wilunda, Calistus; Musumari, Patou Masika; Ono-Kihara, Masako; Mubungu, Gerrye; Kihara, Masahiro; Nakayama, Takeo

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

在刚果民主共和国金沙萨,一项针对127名智力障碍患者的综合临床和遗传学研究正在进行。

Aimé Lumaka ,Valerie Race ,Hilde Peeters ,Anniek Corveleyn ,Zeynep Coban-Akdemir ,Shalini N Jhangiani ,Xiaofei Song ,Gerrye Mubungu ,Jennifer Posey ,James R Lupski ,Joris R Vermeesch ,Prosper Lukusa ,Koenraad Devriendt