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

Multicountry genomic analysis underscores regional cholera spread in Africa

多国基因组分析凸显非洲霍乱的区域性传播

Mboowa, Gerald; Matteson, Nathaniel Lucero; Tanui, Collins Kipngetich; Kasonde, Mpanga; Kamwiziku, Guyguy Kusanzangana; Akanbi, Olusola Anuoluwapo; Chitio, Jucunú Johane Elias; Kagoli, Mathews; Essomba, René Ghislain; Ayitewala, Alisen; Ssewanyana, Isaac; Ngo Bitoungui, Valentina Josiane; Amuri, Adrienne Aziza; Azman, Andrew S; Babatunde, Olajumoke Atinuke; Akenji, Blaise Mboringong; Broban, Anaïs; Malembaka, Espoir Bwenge; Ongole, Francis; Chukwu, Chimaobi Emmanuel; Ismael, Nália; Kapona, Otridah; Laurindo, Osvaldo; Mbala, Placide Kingebeni; Etoundi Mballa, Georges Alain; Miambo, Imelda Carlos Zulfa; Mwanyongo, Alex Ansaye; Najjuka, Grace; Mutale, Joseph; Musonda, Kunda; Niyonzima, Allan Muruta; Nyenje, Mirriam Ethel; Popoola, Michael; Shempela, Doreen Mainza; Sike, Christiane Medi; Sitoe, Sofião Manjor; Wanjohi, Dorcas Waruguru; Welo, Placide Okitayemba; Yelewa, Mtisunge; Yennan, Sebastian; Ziba, Lucius; Bitilinyu-Bangoh, Joseph Ephram; Chilengi, Roma; Hadja, Hamsatou; Idris, Jide; Langa, José Paulo Maurício; Mukadi-Bamuleka, Daniel; Nabadda, Susan; Debes, Amanda K; Sack, David A; Tebeje, Yenew Kebede; Wohl, Shirlee; Tessema, Sofonias Kifle

NPHS2 Revisited Through 208 Cases and Podocin Complex Modeling

通过 208 个病例和足细胞蛋白复合物建模重新审视 NPHS2

Mertens, Nils David; Nicolas Frank, Camille; Bolsius, Leah; Shril, Shirlee; Majmundar, Amar J; Huber, Tobias B; Hildebrandt, Friedhelm; Buerger, Florian

Exome analysis links kidney malformations to developmental disorders and reveals causal genes

外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因。

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes

作者更正:外显子组分析将肾脏畸形与发育障碍联系起来,并揭示了致病基因

Milo Rasouly, Hila; Krishna Murthy, Sarath Babu; Vena, Natalie; Povysil, Gundula; Beenken, Andrew; Verbitsky, Miguel; Shril, Shirlee; Lekkerkerker, Iris; Yang, Sandy; Khan, Atlas; Fasel, David; Wongboonsin, Janewit; Martino, Jeremiah; Ke, Juntao; Elefant, Naama; Tomar, Nikita; Harnof, Ofek; Kisselev, Sergey; Bheda, Shiraz; Reytan-Miron, Sivan; Lim, Tze Y; Jamry-Dziurla, Anna; Lugani, Francesca; Zhang, Jun Y; Marasa, Maddalena; Kolupaeva, Victoria; Groopman, Emily E; Jin, Gina; Ghavami, Iman; Stevens, Kelsey O; Coughlin, Arielle C; Kil, Byum Hee; Chatterjee, Debanjana; Bradbury, Drew; Zheng, Jason; Mehl, Karla; Morban, Maria; Reingold, Rachel; Piva, Stacy; Mu, Xueru; Mitrotti, Adele; Szmigielska, Agnieszka; Gliwińska, Aleksandra; Ranghino, Andrea; Bomback, Andrew S; Badenski, Andrzej; Latos-Bielenska, Anna; Capone, Valentina; Materna-Kiryluk, Anna; Amoroso, Antonio; Izzi, Claudia; La Scola, Claudio; Cohen, David Jonathan; Santoro, Domenico; Drozdz, Dorota; Fiaccadori, Enrico; Lin, Fangming; Scolari, Francesco; Tondolo, Francesco; La Manna, Gaetano; Appel, Gerald B; Ghiggeri, Gian Marco; Zaza, Gianluigi; Montini, Giovanni; Masnata, Giuseppe; Krzemien, Grażyna; Pisani, Isabella; Radhakrishnan, Jai; Zachwieja, Katarzyna; Gesualdo, Loreto; Biancone, Luigi; Meneghesso, Davide; Mizerska-Wasiak, Malgorzata; Tkaczyk, Marcin; Zaniew, Marcin; Borszewska-Kornacka, Maria K; Szczepanska, Maria; Saraga, Marijan; Rao, Maya K; Bodria, Monica; Miklaszewska, Monika; Uy, Natalie S; Baraldi, Olga; Bjanid, Omar; Esposito, Pasquale; Zamboli, Pasquale; Marzuillo, Pierluigi; Canetta, Pietro A; Sikora, Przemyslaw; Westland, Rik; Crew, Russell J; Alam, Shumyle; Guarino, Stefano; Negrisolo, Susanna; Hays, Thomas; Mane, Shrikant; Grandinetti, Valeria; Tasic, Velibor; Lozanovski, Vladimir J; Caliskan, Yasar; Goldstein, David; Lifton, Richard P; Ionita-Laza, Iuliana; Kiryluk, Krzysztof; van Eerde, Albertien M; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone; Gharavi, Ali G

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

Establishing Methods to Monitor Influenza (A)H5N1 Virus in Dairy Cattle Milk, Massachusetts, USA

建立监测美国马萨诸塞州奶牛牛奶中甲型H5N1流感病毒的方法

Stachler, Elyse; Gnirke, Andreas; McMahon, Kyle; Gomez, Michael; Stenson, Liam; Guevara-Reyes, Charelisse; Knoll, Hannah; Hill, Toni; Hill, Sellers; Messer, Katelyn S; Arizti-Sanz, Jon; Albeez, Fatinah; Curtis, Elizabeth; Samani, Pedram; Wewior, Natalia; O'Connor, David H; Vuyk, William; Khoury, Sophia E; Schnizlein, Matthew K; Rockey, Nicole C; Broemmel, Zachariah; Mina, Michael; Madoff, Lawrence C; Wohl, Shirlee; O'Connor, Lorraine; Brown, Catherine M; Ozonoff, Al; Park, Daniel J; MacInnis, Bronwyn L; Sabeti, Pardis C

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

Power and sample size calculations for testing the ratio of reproductive values in phylogenetic samples

系统发育样本中繁殖值比率检验的功效和样本量计算

D'Agostino McGowan, Lucy; Wohl, Shirlee; Lessler, Justin

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