A systematic approach to mapping recessive disease genes in individuals from outbred populations
Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, O'Toole, John F, Hoskins, Bethan E, Wolf, Matthias T F, Hinkes, Bernward G, Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S, Ovunc, Bugsu, Allen, Susan J, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, Macdonald, James, Nürnberg, Peter, Otto, Edgar A
Published in PLoS genetics (01.01.2009)
Published in PLoS genetics (01.01.2009)
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Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations
Chernin, Gil, Vega-Warner, Virginia, Schoeb, Dominik S, Heeringa, Saskia F, Ovunc, Bugsu, Saisawat, Pawaree, Cleper, Roxana, Ozaltin, Fatih, Hildebrandt, Friedhelm
Published in Clinical journal of the American Society of Nephrology (01.09.2010)
Published in Clinical journal of the American Society of Nephrology (01.09.2010)
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Journal Article
Pediatric P‐ANCA vasculitis following COVID‐19
Fireizen, Yaron, Shahriary, Cyrus, Imperial, Maria E., Randhawa, Inderpal, Nianiaris, Nastasia, Ovunc, Bugsu
Published in Pediatric pulmonology (01.10.2021)
Published in Pediatric pulmonology (01.10.2021)
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Journal Article
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling
Gee, Heon Yung, Saisawat, Pawaree, Ashraf, Shazia, Hurd, Toby W, Vega-Warner, Virginia, Fang, Humphrey, Beck, Bodo B, Gribouval, Olivier, Zhou, Weibin, Diaz, Katrina A, Natarajan, Sivakumar, Wiggins, Roger C, Lovric, Svjetlana, Chernin, Gil, Schoeb, Dominik S, Ovunc, Bugsu, Frishberg, Yaacov, Soliman, Neveen A, Fathy, Hanan M, Goebel, Heike, Hoefele, Julia, Weber, Lutz T, Innis, Jeffrey W, Faul, Christian, Han, Zhe, Washburn, Joseph, Antignac, Corinne, Levy, Shawn, Otto, Edgar A, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.08.2013)
Published in The Journal of clinical investigation (01.08.2013)
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Journal Article
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Heeringa, Saskia F, Chernin, Gil, Chaki, Moumita, Zhou, Weibin, Sloan, Alexis J, Ji, Ziming, Xie, Letian X, Salviati, Leonardo, Hurd, Toby W, Vega-Warner, Virginia, Killen, Paul D, Raphael, Yehoash, Ashraf, Shazia, Ovunc, Bugsu, Schoeb, Dominik S, McLaughlin, Heather M, Airik, Rannar, Vlangos, Christopher N, Gbadegesin, Rasheed, Hinkes, Bernward, Saisawat, Pawaree, Trevisson, Eva, Doimo, Mara, Casarin, Alberto, Pertegato, Vanessa, Giorgi, Gianpietro, Prokisch, Holger, Rötig, Agnès, Nürnberg, Gudrun, Becker, Christian, Wang, Su, Ozaltin, Fatih, Topaloglu, Rezan, Bakkaloglu, Aysin, Bakkaloglu, Sevcan A, Müller, Dominik, Beissert, Antje, Mir, Sevgi, Berdeli, Afig, Varpizen, Seza, Zenker, Martin, Matejas, Verena, Santos-Ocaña, Carlos, Navas, Placido, Kusakabe, Takehiro, Kispert, Andreas, Akman, Sema, Soliman, Neveen A, Krick, Stefanie, Mundel, Peter, Reiser, Jochen, Nürnberg, Peter, Clarke, Catherine F, Wiggins, Roger C, Faul, Christian, Hildebrandt, Friedhelm
Published in The Journal of clinical investigation (01.05.2011)
Published in The Journal of clinical investigation (01.05.2011)
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Exome Sequencing Reveals Cubilin Mutation as a Single-Gene Cause of Proteinuria
OVUNC, Bugsu, OTTO, Edgar A, YILMAZ, Engin, HILDEBRANDT, Friedhelm, VEGA-WARNER, Virginia, SAISAWAT, Pawaree, ASHRAF, Shazia, RAMASWAMI, Gokul, FATHY, Hanan M, SCHOEB, Dominik, CHERNIN, Gil, LYONS, Robert H
Published in Journal of the American Society of Nephrology (01.10.2011)
Published in Journal of the American Society of Nephrology (01.10.2011)
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Journal Article
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)
Schoeb, Dominik S., Chernin, Gil, Heeringa, Saskia F., Matejas, Verena, Held, Susanne, Vega-Warner, Virginia, Bockenhauer, Detlef, Vlangos, Christopher N., Moorani, Khemchand N., Neuhaus, Thomas J., Kari, Jameela A., MacDonald, James, Saisawat, Pawaree, Ashraf, Shazia, Ovunc, Bugsu, Zenker, Martin, Hildebrandt, Friedhelm
Published in Nephrology, dialysis, transplantation (01.09.2010)
Published in Nephrology, dialysis, transplantation (01.09.2010)
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Journal Article
DEATH ATTRIBUTABILITY
Backes, Carl, Ovunc, Bugsu, Batlivala, Sarosh, David, Sthuthi, Kollins, Kevin, Rome, Jonathan, Bergersen, Lisa, Holzer, Ralf
Published in Journal of the American College of Cardiology (12.03.2013)
Published in Journal of the American College of Cardiology (12.03.2013)
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Journal Article
Quality metrics in cardiac catheterization for congenital heart disease: Utility of 30-day mortality
Backes, Carl H., Bergersen, Lisa, Rome, Jonathan J., Batlivala, Sarosh P., Glatz, Andrew C., Ovunc, Bugsu, David, Sthuthi, Rivera, Brian K., Haque, Urbee, Kollins, Kevin, Yin, Han, Holzer, Ralf J.
Published in Catheterization and cardiovascular interventions (01.01.2015)
Published in Catheterization and cardiovascular interventions (01.01.2015)
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A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations: e1000353
Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, Hoskins, Bethan E, Wolf, Matthias TF, Hinkes, Bernward G, Chaib, Hassan, Ashraf, Shazia, Schoeb, Dominik S, Ovunc, Bugsu, Allen, Susan J, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, MacDonald, James, Nürnberg, Peter, Otto, Edgar A
Published in PLoS genetics (01.01.2009)
Published in PLoS genetics (01.01.2009)
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Journal Article
Pediatric P-ANCA vasculitis following COVID-19
Fireizen, Yaron, Shahriary, Cyrus, Imperial, Maria E, Randhawa, Inderpal, Nianiaris, Nastasia, Ovunc, Bugsu
Published in Pediatric pulmonology (01.10.2021)
Published in Pediatric pulmonology (01.10.2021)
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Pediatric P-ANCA vasculitis following COVID-19
Fireizen, Yaron, Shahriary, Cyrus, Imperial, Maria E, Randhawa, Inderpal, Nastasia Nianiaris, Ovunc, Bugsu
Published in Pediatric Pulmonology (11.08.2021)
Published in Pediatric Pulmonology (11.08.2021)
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