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

Genetic Testing in the Management of Adult CKD

成人慢性肾脏病管理中的基因检测

Chebib, Fouad T; Wang, Xiangling; Udani, Suneel M; Westemeyer, Maggie; Clark, Dinah; Zhang, Zhiji; Bloom, Michelle S; Milo Rasouly, Hila; Kolupaeva, Victoria; Mizani, Mohammad R; Dossabhoy, Neville R; Faravardeh, Arman; Demko, Zachary P; Kotte, Sri; Punj, Sumit; Chapman, Steven L; Rabinowitz, Matthew; Schneider, Ronen; Tabriziani, Hossein; Bhorade, Sangeeta; Gharavi, Ali G; Dahl, Neera K

A Drug Screening Platform for Podocytopathies in Drosophila Nephrocytes.

果蝇肾细胞足细胞病药物筛选平台

Spitz Dominik, Wiggering Jost, Prakash Chiranth, Ulbrich Maximilian H, Schneider Ronen, Hermle Tobias

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

沙特阿拉伯儿童肾脏疾病单中心队列的外显子组测序

Lemberg, Katharina; Shalaby, Mohamed A; Zion, Elena; Saida, Ken; Yousef, Kirollos; Schneider, Ronen; Mertens, Nils D; Mansour, Bshara; Kolvenbach, Caroline M; Merz, Lea M; Riedhammer, Korbinian M; Braun, Alina; Hölzel, Selina; Yu, Seyoung; Lomjansook, Kraisoon; Kalkar, Gina; Marchuk, Daniel; Elmubarak, Izzeldin; Franken, Gijs A C; Shril, Shirlee; El Desoky, Sherif; Kari, Jameela A; Buerger, Florian; Hildebrandt, Friedhelm

Phenotypic quantification of Nphs1-deficient mice

Nphs1缺陷小鼠的表型定量分析

Schneider, Ronen; Mansour, Bshara; Kolvenbach, Caroline M; Buerger, Florian; Salmanullah, Daanya; Lemberg, Katharina; Merz, Lea M; Mertens, Nils D; Saida, Ken; Yousef, Kirollos; Franken, Gijs A C; Bao, Aaron; Yu, Seyoung; Hölzel, Selina; Nicolas-Frank, Camille; Steinsapir, Andrew; Goncalves, Kevin A; Shril, Shirlee; Hildebrandt, Friedhelm

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

利用三重外显子组测序扩大了候选基因的范围,并在320个激素抵抗性肾病综合征家族中27.5%的病例中鉴定出单基因病因。

Schneider, Ronen; Shril, Shirlee; Buerger, Florian; Deutsch, Konstantin; Yousef, Kirollos; Frank, Camille N; Onuchic-Whitford, Ana C; Kitzler, Thomas M; Mao, Youying; Klämbt, Verena; Zahoor, Muhammad Y; Lemberg, Katharina; Majmundar, Amar J; Mansour, Bshara; Saida, Ken; Seltzsam, Steve; Kolvenbach, Caroline M; Merz, Lea Maria; Mertens, Nils D; Hermle, Tobias; Mann, Nina; Pantel, Dalia; Halawi, Abdul A; Bao, Aaron; Schierbaum, Luca; Schneider, Sophia; Salmanullah, Daanya; Ben-Dov, Iddo Z; Sagiv, Itamar; Eid, Loai A; Awad, Hazem Subhi H; Al Saffar, Muna; Soliman, Neveen A; Nabhan, Marwa M; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohamed A; Ooda, Said; Fathy, Hanan M; Mane, Shrikant; Lifton, Richard P; Somers, Michael J G; Hildebrandt, Friedhelm

Genome Sequencing for Diagnosing Rare Diseases

基因组测序在罕见病诊断中的应用

Wojcik, Monica H; Lemire, Gabrielle; Berger, Eva; Zaki, Maha S; Wissmann, Mariel; Win, Wathone; White, Susan M; Weisburd, Ben; Wieczorek, Dagmar; Waddell, Leigh B; Verboon, Jeffrey M; VanNoy, Grace E; Töpf, Ana; Tan, Tiong Yang; Syrbe, Steffen; Strehlow, Vincent; Straub, Volker; Stenton, Sarah L; Snow, Hana; Singer-Berk, Moriel; Silver, Josh; Shril, Shirlee; Seaby, Eleanor G; Schneider, Ronen; Sankaran, Vijay G; Sanchis-Juan, Alba; Russell, Kathryn A; Reinson, Karit; Ravenscroft, Gianina; Radtke, Maximilian; Popp, Denny; Polster, Tilman; Platzer, Konrad; Pierce, Eric A; Place, Emily M; Pajusalu, Sander; Pais, Lynn; Õunap, Katrin; Osei-Owusu, Ikeoluwa; Opperman, Henry; Okur, Volkan; Oja, Kaisa Teele; O'Leary, Melanie; O'Heir, Emily; Morel, Chantal F; Merkenschlager, Andreas; Marchant, Rhett G; Mangilog, Brian E; Madden, Jill A; MacArthur, Daniel; Lovgren, Alysia; Lerner-Ellis, Jordan P; Lin, Jasmine; Laing, Nigel; Hildebrandt, Friedhelm; Hentschel, Julia; Groopman, Emily; Goodrich, Julia; Gleeson, Joseph G; Ghaoui, Roula; Genetti, Casie A; Gburek-Augustat, Janina; Gazda, Hanna T; Ganesh, Vijay S; Ganapathi, Mythily; Gallacher, Lyndon; Fu, Jack M; Evangelista, Emily; England, Eleina; Donkervoort, Sandra; DiTroia, Stephanie; Cooper, Sandra T; Chung, Wendy K; Christodoulou, John; Chao, Katherine R; Cato, Liam D; Bujakowska, Kinga M; Bryen, Samantha J; Brand, Harrison; Bönnemann, Carsten G; Beggs, Alan H; Baxter, Samantha M; Bartolomaeus, Tobias; Agrawal, Pankaj B; Talkowski, Michael; Austin-Tse, Christina; Abou Jamra, Rami; Rehm, Heidi L; O'Donnell-Luria, Anne

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

在一组未确诊罕见遗传病家族中开展外显子组拷贝数变异的检测、分析和分类

Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S; Wojcik, Monica H; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L; Neil, Jennifer E; Shao, Diane D; Walsh, Christopher A; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H; Gleeson, Joseph G; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G; Madden, Jill A; Genetti, Casie A; Beggs, Alan H; Agrawal, Pankaj B; Bujakowska, Kinga M; Place, Emily; Pierce, Eric A; Donkervoort, Sandra; Bönnemann, Carsten G; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M; Töpf, Ana; Straub, Volker; Fleming, Mark D; Pollak, Martin R; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G; MacArthur, Daniel G; Rehm, Heidi L; Talkowski, Michael E; Brand, Harrison; O'Donnell-Luria, Anne

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

对芬兰型先天性肾病综合征的组成型基因敲除小鼠模型进行可量化和可重复的表型评估

Lemberg Katharina, Mertens Nils D, Yousef Kirollos, Schneider Ronen, Merz Lea M, Mansour Bshara, Salmanullah Daanya, Kolvenbach Caroline M, Saida Ken, Yu Seyoung, Hölzel Selina, Steinsapir Andrew, Goncalves Kevin A, Nicolas Frank Camille, Franken Gijs A C, Shril Shirlee, Buerger Florian, Hildebrandt Friedhelm

Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.

对 Nphs1 基因敲除小鼠进行定量表型分析是基因替代研究的先决条件

Buerger Florian, Merz Lea M, Saida Ken, Yu Seyoung, Salmanullah Daanya, Lemberg Katharina, Mertens Nils D, Mansour Bshara, Kolvenbach Caroline M, Yousef Kirollos, Hölzel Selina, Braun Alina, Franken Gijs A C, Goncalves Kevin A, Steinsapir Andrew, Endlich Nicole, Schneider Ronen, Shril Shirlee, Hildebrandt Friedhelm