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

Interstitial cystitis: a phenotype and rare variant exome sequencing study

间质性膀胱炎:表型和罕见变异外显子组测序研究

Motelow, Joshua E; Malakar, Ayan; Krishna Murthy, Sarath Babu; Verbitsky, Miguel; Kahn, Atlas; Estrella, Elicia; Shao, Wanqing; Kunkel, Louis; Wiesenhahn, Madelyn; Beckett, Jaimee; Harris, Natasha; Lee, Richard; Adam, Rosalyn; Barbour, Kamil E; Hakonarson, Hakon; Luo, Yuan; Weng, Chunhua; Mendelsohn, Cathy L; Kiryluk, Krzysztof; Gharavi, Ali G; Brownstein, Catherine A

Urobiota analysis and genome-wide association study in pediatric recurrent urinary tract infections and vesicoureteral reflux

儿童复发性尿路感染和膀胱输尿管反流的尿路菌群分析和全基因组关联研究

Verbitsky, Miguel; Khosla, Pavan; Bivona, Daniel; Khan, Atlas; Gupta, Yask; Park, Heekuk; Shen, Tian H; Ghotra, Aryan; Xu, Katherine; Ghavami, Iman A; Krithivasan, Priya; Martino, Jeremiah; Sezin, Tanya; Lim, Tze Y; Kolupaeva, Victoria; Limdi, Nita A; Luo, Yuan; Hakonarson, Hakon; Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Mendelsohn, Cathy L; Uhlemann, Anne-Catrin; Barasch, Jonathan; Gharavi, Ali G

Amphiphilic Cu(II) Oxacyclen Complexes: From Oxidative Cleavage to Condensation of DNA

两亲性Cu(II)氧杂环烯配合物:从氧化裂解到DNA缩合

Verbitsky, Olga; Hinojosa, Sebastián; Mostafa, Amr; Ojha, Deepak; Bald, Ilko; Kulak, Nora

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

Loss of GalNAc-T14 links O-glycosylation defects to alterations in B cell homing in IgA nephropathy

GalNAc-T14 的缺失将 O-糖基化缺陷与 IgA 肾病中 B 细胞归巢的改变联系起来。

Prakash, Sindhuri; Steers, Nicholas J; Li, Yifu; Sanchez-Rodriguez, Elena; Verbitsky, Miguel; Robbins, Isabel; Simpson, Jenna; Pathak, Sharvari; Raska, Milan; Reily, Colin; Ng, Anna; Liang, Judy; DeMaria, Natalia; Katiraei, Amanda; Stevens, Kelsey O; Fischman, Clara; Shapiro, Samantha; Kodali, Swetha; McCutchan, Jason; Park, Heekuk; Eliby, Djamila; Delsante, Marco; Allegri, Landino; Fiaccadori, Enrico; Bodria, Monica; Marasa, Maddalena; Raveche, Elizabeth; Julian, Bruce A; Uhlemann, Anne-Catrin; Kiryluk, Krzysztof; Zhang, Hong; D'Agati, Vivette D; Sanna-Cherchi, Simone; Novak, Jan; Gharavi, Ali G

Blood phenylalanine lowering partially reverses white matter changes in a mouse model of phenylketonuria

降低血液中苯丙氨酸水平可部分逆转苯丙酮尿症小鼠模型中的白质变化

Manek, Rachna; Huang, Weixiao; Huang, Yinyin; Guo, Lilu; Cornell, Cathleen S; Shazeeb, Mohammed Salman; Verbitsky, Alexander; Jackson, Robert; Johnson, Jennifer; Berthelette, Patricia; Yu, Dan; Pfister, Edith L; Bangari, Dinesh; Ying, Xiaoyou; Kumar, Dinesh; Mueller, Christian; Kyostio-Moore, Sirkka

Family History in the Context of CKD

慢性肾脏病背景下的家族史

Zanoni, Francesca; Marasa, Maddalena; Carlassara, Lucrezia; Verbitsky, Miguel; Khan, Atlas; Wang, Chen; Bundy, Joshua D; Canetta, Pietro A; Bomback, Andrew S; Parsa, Afshin; Feldman, Harold I; Gharavi, Ali G; Kiryluk, Krzysztof

Metadata harmonization from biological datasets with language models

利用语言模型实现生物数据集元数据协调

Verbitsky, Alexander; Boutet, Patrick; Eslami, Mohammed

Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study

间质性膀胱炎:一项表型和罕见变异外显子组测序研究:间质性膀胱炎:一项表型和外显子组测序研究

Motelow, Joshua E; Malakar, Ayan; Murthy, Sarath Babu Krishna; Verbitsky, Miguel; Kahn, Atlas; Estrella, Elicia; Kunkel, Louis; Wiesenhahn, Madelyn; Becket, Jaimee; Harris, Natasha; Lee, Richard; Adam, Rosalyn; Kiryluk, Krzysztof; Gharavi, Ali G; Brownstein, Catherine A