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A

Agnieszka Bierżyńska

University of Bristol
H指数:24
被引数:3,282

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National Unified Renal Translational Research Enterprise: Idiopathic Nephrotic Syndrome (NURTuRE-INS) study

全国统一肾脏转化研究企业: 特发性肾病综合征 (NURTuRE-INS) 研究

CLINICAL KIDNEY JOURNAL
IF4.6
2024-03-301
OAAI
Colby, Elizabeth; Hayward, Samantha; Benavente, Melissa; Robertson, Fiona; Bierzynska, Agnieszka; Osborne, Amy; Parmesar, Kevon; Afzal, Maryam; Chapman, Tracey; Ullah, Fatima; Davies, Elaine; Nation, Michael; Cook, Wendy; Johnson, Tim; Andag, Uwe; Radresa, Olivier; Skroblin, Philipp; Bayerlova, Michaela; Unwin, Robert; Vuilleumier, Nicolas; Banks, Rosamonde E.; Braddon, Fiona; Koziell, Ania; Taal, Maarten W.; Welsh, Gavin, I; Saleem, Moin A.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria (vol 29, pg 1186, 2021)
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2023-01-311
OAAI
Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S.
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
IF9.4
2021-07-014
OA
Lane, Brandon M.; Murray, Susan; Benson, Katherine; Bierzynska, Agnieszka; Chryst-Stangl, Megan; Wang, Liming; Wu, Guanghong; Cavalleri, Gianpiero; Doyle, Brendan; Fennelly, Neil; Dorman, Anthony; Conlon, Shane; Vega-Warner, Virginia; Fermin, Damian; Vijayan, Poornima; Qureshi, Mohammad Azfar; Shril, Shirlee; Barua, Moumita; Hildebrandt, Friedhelm; Pollak, Martin; Howell, David; Sampson, Matthew G.; Saleem, Moin; Conlon, Peter J.; Spurney, Robert; Gbadegesin, Rasheed
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-04-1578
OAAI
Savige, Judy; Storey, Helen; Watson, Elizabeth; Hertz, Jens Michael; Deltas, Constantinos; Renieri, Alessandra; Mari, Francesca; Hilbert, Pascale; Plevova, Pavlina; Byers, Peter; Cerkauskaite, Agne; Gregory, Martin; Cerkauskiene, Rimante; Ljubanovic, Danica Galesic; Becherucci, Francesca; Errichiello, Carmela; Massella, Laura; Aiello, Valeria; Lennon, Rachel; Hopkinson, Louise; Koziell, Ania; Lungu, Adrian; Rothe, Hansjorg Martin; Hoefele, Julia; Zacchia, Miriam; Martic, Tamara Nikuseva; Gupta, Asheeta; van Eerde, Albertien; Gear, Susie; Landini, Samuela; Palazzo, Viviana; Al-Rabadi, Laith; Claes, Kathleen; Corveleyn, Anniek; Van Hoof, Evelien; van Geel, Micheel; Williams, Maggie; Ashton, Emma; Belge, Hendica; Ars, Elisabeth; Bierzynska, Agnieszka; Gangemi, Concetta; Lipska-Zietkiewicz, Beata S.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-02-0126
OAAI
Weng, Patricia L.; Majmundar, Amar J.; Khan, Kamal; Lim, Tze Y.; Shril, Shirlee; Jin, Gina; Musgrove, John; Wang, Minxian; Ahram, Dina F.; Aggarwal, Vimla S.; Bier, Louise E.; Heinzen, Erin L.; Onuchic-Whitford, Ana C.; Mann, Nina; Buerger, Florian; Schneider, Ronen; Deutsch, Konstantin; Kitzler, Thomas M.; Klambt, Verena; Kolb, Amy; Mao, Youying; El Achkar, Christelle Moufawad; Mitrotti, Adele; Martino, Jeremiah; Beck, Bodo B.; Altmuller, Janine; Benz, Marcus R.; Yano, Shoji; Mikati, Mohamad A.; Gunduz, Talha; Cope, Heidi; Shashi, Vandana; Trachtman, Howard; Bodria, Monica; Caridi, Gianluca; Pisani, Isabella; Fiaccadori, Enrico; AbuMaziad, Asmaa S.; Martinez-Agosto, Julian A.; Yadin, Ora; Zuckerman, Jonathan; Kim, Arang; John-Kroegel, Ulrike; Tyndall, Amanda, V; Parboosingh, Jillian S.; Innes, A. Micheil; Bierzynska, Agnieszka; Koziell, Ania B.; Muorah, Mordi; Saleem, Moin A.; Hoefele, Julia; Riedhammer, Korbinian M.; Gharavi, Ali G.; Jobanputra, Vaidehi; Pierce-Hoffman, Emma; Seaby, Eleanor G.; O'Donnell-Luria, Anne; Rehm, Heidi L.; Mane, Shrikant; D'Agati, Vivette D.; Pollak, Martin R.; Ghiggeri, Gian Marco; Lifton, Richard P.; Goldstein, David B.; Davis, Erica E.; Hildebrandt, Friedhelm; Sanna-Cherchi, Simone
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management
KIDNEY INTERNATIONAL
IF12.6
2017-04-01223
OAAI
Bierzynska, Agnieszka; McCarthy, Hugh J.; Soderquest, Katrina; Sen, Ethan S.; Colby, Elizabeth; Ding, Wen Y.; Nabhan, Marwa M.; Kerecuk, Larissa; Hegde, Shivram; Hughes, David; Marks, Stephen; Feather, Sally; Jones, Caroline; Webb, Nicholas J. A.; Ognjanovic, Milos; Christian, Martin; Gilbert, Rodney D.; Sinha, Manish D.; Lord, Graham M.; Simpson, Michael; Koziell, Ania B.; Welsh, Gavin I.; Saleem, Moin A.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2017-02-06122
OAAI
Prasad, Rathi; Hadjidemetriou, Irene; Maharaj, Avinaash; Meimaridou, Eirini; Buonocore, Federica; Saleem, Moin; Hurcombe, Jenny; Bierzynska, Agnieszka; Barbagelata, Eliana; Bergada, Ignacio; Cassinelli, Hamilton; Das, Urmi; Krone, Ruth; Hacihamdioglu, Bulent; Sari, Erkan; Yesilkaya, Ediz; Storr, Helen L.; Clemente, Maria; Fernandez-Cancio, Monica; Camats, Nuria; Ram, Nanik; Achermann, John C.; Van Veldhoven, Paul P.; Guasti, Leonardo; Braslavsky, Debora; Guran, Tulay; Metherell, Louise A.
FAT1 mutations cause a glomerulotubular nephropathy
NATURE COMMUNICATIONS
IF15.7
2016-02-2498
OAAI
Gee, Heon Yung; Sadowski, Carolin E.; Aggarwal, Pardeep K.; Porath, Jonathan D.; Yakulov, Toma A.; Schueler, Markus; Lovric, Svjetlana; Ashraf, Shazia; Braun, Daniela A.; Halbritter, Jan; Fang, Humphrey; Airik, Rannar; Vega-Warner, Virginia; Cho, Kyeong Jee; Chan, Timothy A.; Morris, Luc G. T.; Ffrench-Constant, Charles; Allen, Nicholas; McNeill, Helen; Buescher, Rainer; Kyrieleis, Henriette; Wallot, Michael; Gaspert, Ariana; Kistler, Thomas; Milford, David V.; Saleem, Moin A.; Keng, Wee Teik; Alexander, Stephen I.; Valentini, Rudolph P.; Licht, Christoph; Teh, Jun C.; Bogdanovic, Radovan; Koziell, Ania; Bierzynska, Agnieszka; Soliman, Neveen A.; Otto, Edgar A.; Lifton, Richard P.; Holzman, Lawrence B.; Sibinga, Nicholas E. S.; Walz, Gerd; Tufro, Alda; Hildebrandt, Friedhelm
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2013-11-25300
OAAI
Ashraf, Shazia; Gee, Heon Yung; Woerner, Stephanie; Xie, Letian X.; Vega-Warner, Virginia; Lovric, Svjetlana; Fang, Humphrey; Song, Xuewen; Cattran, Daniel C.; Avila-Casado, Carmen; Paterson, Andrew D.; Nitschke, Patrick; Bole-Feysot, Christine; Cochat, Pierre; Esteve-Rudd, Julian; Haberberger, Birgit; Allen, Susan J.; Zhou, Weibin; Airik, Rannar; Otto, Edgar A.; Barua, Moumita; Al-Hamed, Mohamed H.; Kari, Jameela A.; Evans, Jonathan; Bierzynska, Agnieszka; Saleem, Moin A.; Boeckenhauer, Detlef; Kleta, Robert; El Desoky, Sherif; Hacihamdioglu, Duygu O.; Gok, Faysal; Washburn, Joseph; Wiggins, Roger C.; Choi, Murim; Lifton, Richard P.; Levy, Shawn; Han, Zhe; Salviati, Leonardo; Prokisch, Holger; Williams, David S.; Pollak, Martin; Clarke, Catherine F.; Pei, York; Antignac, Corinne; Hildebrandt, Friedhelm

研究方向

暂未获取到该数据
M
Moin A. Saleem
H 指数:81论文数:569被引数:2.2万
A
Ania Koziell
H 指数:35论文数:65被引数:5,074
G
Gavin I. Welsh
H 指数:53论文数:259被引数:9,119
E
Elizabeth Colby
H 指数:14论文数:34被引数:1,863
F
Friedhelm Hildebrandt
H 指数:108论文数:593被引数:3.7万
S
Shazia Ashraf
H 指数:34论文数:91被引数:5,897
M
Michael A. Simpson
H 指数:77论文数:395被引数:3.9万
O
Olivia Boyer
H 指数:47论文数:321被引数:7,188
J
Julia Hoefele
H 指数:32论文数:141被引数:4,697
E
Ethan S Sen
H 指数:23论文数:88被引数:2,015