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

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

TRPC6相关足细胞病的自然史和临床病理学关联

Wooden, Benjamin; Beenken, Andrew; Martinelli, Elena; Saida, Ken; Knob, Andrea L; Ke, Juntao; Pisani, Isabella; Jin, Gina; Lane, Brandon; Mitrotti, Adele; Colby, Elizabeth; Lim, Tze Y; Guglielmi, Francesca; Osborne, Amy J; Ahram, Dina F; Wang, Chen; Armand, Farid; Zanoni, Francesca; Bomback, Andrew S; Delsante, Marco; Appel, Gerald B; Ferrari, Massimo R A; Martino, Jeremiah; Sahdeo, Sunil; Breckenridge, David; Petrovski, Slavé; Paul, Dirk S; Hall, Gentzon; Magistroni, Riccardo; Murtas, Corrado; Feriozzi, Sandro; Rampino, Teresa; Esposito, Pasquale; Helmuth, Margaret E; Sampson, Matthew G; Kretzler, Matthias; Kiryluk, Krzysztof; Shril, Shirlee; Gesualdo, Loreto; Maggiore, Umberto; Fiaccadori, Enrico; Gbadegesin, Rasheed; Santoriello, Dominick; D'Agati, Vivette D; Saleem, Moin A; Gharavi, Ali G; Hildebrandt, Friedhelm; Pollak, Martin R; Goldstein, David B; Sanna-Cherchi, Simone

From Heterogeneity to Precision in Urinary Stone Disease: Who to Test, When, and with What

从尿路结石疾病的异质性到精准诊断:哪些人需要检测,何时检测,以及使用什么检测方法?

Saida, Ken; Majmundar, Amar J

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

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序能够提供高诊断率,并为智力障碍和发育迟缓的病因学研究提供新的见解。

Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Misawa, Kazuharu; Koshimizu, Eriko; Uchiyama, Yuri; Tsuchida, Naomi; Seyama, Rie; Sakamoto, Masamune; Iwama, Kazuhiro; Nishimura, Naoto; Utsuno, Yasuhiro; Fu, Li; Takizawa, Marina; Liang, Qiaowei; Itai, Toshiyuki; Saida, Ken; Ohori, Sachiko; Kameyama, Shinichi; Fukuda, Hiromi; Hayashi, Yukina; Inoue, Yuta; Goto, Tomohide; Ichikawa, Kazushi; Kuki, Ichiro; Fukuoka, Masataka; Kim, Kiyohiro; Shiohama, Tadashi; Shimoda, Konomi; Otsuka, Kosuke; Ueda, Yuki; Cho, Kazutoshi; Yuge, Kotaro; Tachi, Nobutada; Yoshida, Masaki; Daida, Atsuro; Hirasawa, Kyoko; Yanagishita, Tomoe; Yamamoto, Toshiyuki; Shirai, Kentaro; Mehr, Tammar Fixler; Fattal-Valevski, Aviva; Lev, Dorit; Yokoyama, Haruna; Iwabuchi, Emi; Saito, Yoshihiko; Miura, Masaki; Sugai, Kenji; Ishiyama, Akihiko; Sasaki, Masayuki; Watanabe, Yoshihiro; Takanashi, Jun-Ichi; Kim, Chong Ae; Yokochi, Kenji; Tohyama, Jun; Mori, Tatsuo; Izumi, Yuishin; Hasegawa, Yuiko; Okamoto, Nobuhiko; Ikeda, Takahiro; Osaka, Hitoshi; Kawai, Yosuke; Omae, Yosuke; Tokunaga, Katsushi; Kato, Mitsuhiro; Mizuguchi, Takeshi; Matsumoto, Naomichi

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

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

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

全外显子组测序优于免疫定位法在67例巴西大疱性表皮松解症患者中的优势

Kelmann, Samantha Vernaschi; Stephan, Bruno de Oliveira; Barbosa, Silvia Maria de Macedo; Polastrini, Rita Tiziana Verardo; Oliveira, Zilda Najjar Prado de; Rivitti-Machado, Maria Cecília; Spolador, Gustavo Marquezani; Honjo, Rachel Sayuri; Saida, Ken; Matsumoto, Naomichi; Kim, Chong Ae

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