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

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

Molecular Systems Biology at 20: reflecting on the past, envisioning the future

分子系统生物学20周年:回顾过去,展望未来

Bheda, Poonam; Hou, Jingyi; Aebersold, Ruedi; Alon, Uri; Bader, Joel S; Bardwell, Lee; Liu, Edison T; Locke, James C W; Mann, Matthias; Millar, Andrew J; Naef, Felix; Pilpel, Yitzhak; Shamir, Ron; Vitkup, Dennis

Increased risk of kidney failure in patients with genetic kidney disorders

患有遗传性肾脏疾病的患者发生肾衰竭的风险增加

Elliott, Mark D; Vena, Natalie; Marasa, Maddalena; Cocchi, Enrico; Bheda, Shiraz; Bogyo, Kelsie; Shang, Ning; Zanoni, Francesca; Verbitsky, Miguel; Wang, Chen; Kolupaeva, Victoria; Jin, Gina; Sofer, Maayan; Gras Pena, Rafael; Canetta, Pietro A; Bomback, Andrew S; Guay-Woodford, Lisa M; Hou, Jean; Gillespie, Brenda W; Robinson, Bruce M; Klein, Jon B; Rheault, Michelle N; Smoyer, William E; Greenbaum, Larry A; Holzman, Larry B; Falk, Ronald J; Parsa, Afshin; Sanna-Cherchi, Simone; Mariani, Laura H; Kretzler, Matthias; Kiryluk, Krzysztof; Gharavi, Ali G

Developing a genetic testing panel for evaluation of morbidities in kidney transplant recipients

开发用于评估肾移植受者并发症的基因检测组合

Ma, Becky M; Elefant, Naama; Tedesco, Martina; Bogyo, Kelsie; Vena, Natalie; Murthy, Sarath K; Bheda, Shiraz A; Yang, Sandy; Tomar, Nikita; Zhang, Jun Y; Husain, Syed Ali; Mohan, Sumit; Kiryluk, Krzysztof; Rasouly, Hila Milo; Gharavi, Ali G

Assisting the analysis of insertions and deletions using regional allele frequencies

利用区域等位基因频率辅助分析插入和缺失

Krishna Murthy, Sarath Babu; Yang, Sandy; Bheda, Shiraz; Tomar, Nikita; Li, Haiyue; Yaghoobi, Amir; Khan, Atlas; Kiryluk, Krzysztof; Motelow, Joshua E; Ren, Nick; Gharavi, Ali G; Milo Rasouly, Hila

Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes

具有高危APOL1基因型的慢性肾病患者的临床和遗传特征

Elliott, Mark D; Marasa, Maddalena; Cocchi, Enrico; Vena, Natalie; Zhang, Jun Y; Khan, Atlas; Krishna Murthy, Sarath; Bheda, Shiraz; Milo Rasouly, Hila; Povysil, Gundula; Kiryluk, Krzysztof; Gharavi, Ali G

Quantitative RNA imaging in single live cells reveals age-dependent asymmetric inheritance

单个活细胞的定量 RNA 成像揭示了年龄依赖性的不对称遗传

Igor V Kukhtevich, Mariana Rivero-Romano, Namisha Rakesh, Poonam Bheda, Yagya Chadha, Paulina Rosales-Becerra, Stephan Hamperl, Daniela Bureik, Scarlett Dornauer, Catherine Dargemont, Antonis Kirmizis, Kurt M Schmoller, Robert Schneider

Altered expression response upon repeated gene repression in single yeast cells

单个酵母细胞中重复基因抑制引起的表达反应改变

Schuh, Lea; Kukhtevich, Igor; Bheda, Poonam; Schulz, Melanie; Bordukova, Maria; Schneider, Robert; Marr, Carsten

Metabolic transcriptional memory

代谢转录记忆

Bheda, Poonam