 | Up a level |
Boeckhaus, Jan, Hoefele, Julia 
ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Nagel, Mato, Beck, Bodo B., Choi, Mira, Gollasch, Maik, Bergmann, Carsten, Sonntag, Joseph E., Troesch, Victoria, Stock, Johanna and Gross, Oliver ORCID: 0000-0002-8390-8852
(2022).
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study.
Nephrol. Dial. Transplant., 37 (12).
S. 2496 - 2505.
OXFORD:
OXFORD UNIV PRESS.
ISSN 1460-2385
Dworschak, Gabriel C., Punetha, Jaya ORCID: 0000-0002-6774-4464, Kalanithy, Jeshurun C., Mingardo, Enrico, Erdem, Haktan B., Akdemir, Zeynep C., Karaca, Ender, Mitani, Tadahiro, Marafi, Dana, Fatih, Jawid M., Jhangiani, Shalini N., Hunter, Jill V., Dakal, Tikam Chand, Dhabhai, Bhanupriya, Dabbagh, Omar, Alsaif, Hessa S., Alkuraya, Fowzan S., Maroofian, Reza, Houlden, Henry, Efthymiou, Stephanie ORCID: 0000-0003-4900-9877, Dominik, Natalia, Salpietro, Vincenzo, Sultan, Tipu, Haider, Shahzad, Bibi, Farah, Thiele, Holger, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Wagner, Matias, Guella, Ilaria, Demos, Michelle, Keren, Boris, Buratti, Julien, Charles, Perrine, Nava, Caroline, Heron, Delphine, Heide, Solveig, Valkanas, Elise, Waddell, Leigh B., Jones, Kristi J., Oates, Emily C., Cooper, Sandra T., MacArthur, Daniel, Syrbe, Steffen, Ziegler, Andreas, Platzer, Konrad, Okur, Volkan ORCID: 0000-0001-6461-0957, Chung, Wendy K., O'Shea, Sarah A., Alcalay, Roy, Fahn, Stanley, Mark, Paul R., Guerrini, Renzo ORCID: 0000-0002-7272-7079, Vetro, Annalisa, Hudson, Beth, Schnur, Rhonda E., Hoganson, George E., Burton, Jennifer E., McEntagart, Meriel, Lindenberg, Tobias, Yilmaz, Oeznur, Odermatt, Benjamin, Pehlivan, Davut, Posey, Jennifer E., Lupski, James R. and Reutter, Heiko
(2021).
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet. Med., 23 (9).
S. 1715 - 1726.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1530-0366
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 ORCID: 0000-0003-2952-5030, Kitzler, Thomas M., Klambt, Verena ORCID: 0000-0003-1180-0794, Kolb, Amy, Mao, Youying, El Achkar, Christelle Moufawad, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmuller, Janine ORCID: 0000-0003-4372-1521, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi ORCID: 0000-0003-0586-9277, Shashi, Vandana, Trachtman, Howard ORCID: 0000-0001-7447-9489, Bodria, Monica, Caridi, Gianluca ORCID: 0000-0001-6700-3001, 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 ORCID: 0000-0002-7878-6096, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne ORCID: 0000-0001-6418-9592, 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 and Sanna-Cherchi, Simone
(2021).
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am. J. Hum. Genet., 108 (2).
S. 357 - 368.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Boeckhaus, Jan, Hoefele, Julia ORCID: 0000-0002-7917-7129, Riedhammer, Korbinian M., Tonshoff, Burkhard, Ehren, Rasmus, Pape, Lars, Latta, Kay, Fehrenbach, Henry, Lange-Sperandio, Baerbel, Kettwig, Matthias, Hoyer, Peter, Staude, Hagen, Konrad, Martin, John, Ulrike, Gellermann, Jutta, Hoppe, Bernd, Galiano, Matthias, Gessner, Michaela, Pohl, Michael, Bergmann, Carsten, Friede, Tim and Gross, Oliver
(2021).
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Clin. Genet., 99 (1).
S. 143 - 157.
HOBOKEN:
WILEY.
ISSN 1399-0004
Riedhammer, Korbinian M., Stippel, Michaela, GUenthner, Roman, Braunisch, Matthias C., Herr, Pierre Maurice, Macheroux, Eva Pauline, Beck, Bodo B., Satanovskij, Robin, Tasic, Velibor ORCID: 0000-0002-3377-1245 and Hoefele, Julia ORCID: 0000-0002-7917-7129
(2018).
FREQUENCY OF PATHOGENIC VARIANTS IN A MUNICH CAKUT COHORT.
Pediatr. Nephrol., 33 (10).
S. 1821 - 1822.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Hoefele, Julia ORCID: 0000-0002-7917-7129, Beck, Bodo B., Weber, Lutz T. and Brinkkoetter, Paul ORCID: 0000-0002-4287-2080
(2018).
Steroid-resistent nephrotic syndrome.
Med. Genet., 30 (4).
S. 410 - 422.
HEIDELBERG:
SPRINGER HEIDELBERG.
ISSN 1863-5490
Alberer, Martin, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Bokenkamp, Arend and Weber, Lutz T.
(2017).
No Impact of the Analytical Method used for Determing Cystatin C on Estimating lomerular Filtration Rate in Children.
Front. Pediatr., 5.
LAUSANNE:
FRONTIERS MEDIA SA.
ISSN 2296-2360
Weber, Stefanie, Buescher, Anja K., Hagmann, Henning, Liebau, Max C., Heberle, Christian, Ludwig, Michael, Rath, Sabine, Alberer, Martin, Beissert, Antje, Zenker, Martin, Hoyer, Peter F., Konrad, Martin, Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129
(2016).
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Pediatr. Nephrol., 31 (1).
S. 73 - 82.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Weber, Stefanie, Strasser, Katja, Rath, Sabine, Kittke, Achim, Beicht, Sonja, Alberer, Martin, Lange-Sperandio, Baerbel, Hoyer, Peter F., Benz, Marcus R., Ponsel, Sabine, Weber, Lutz T., Klein, Hanns-Georg and Hoefele, Julia ORCID: 0000-0002-7917-7129
(2016).
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Pediatr. Nephrol., 31 (6).
S. 941 - 956.
NEW YORK:
SPRINGER.
ISSN 1432-198X
Buescher, Anja K., Beck, Bodo B., Melk, Anette, Hoefele, Julia ORCID: 0000-0002-7917-7129, Kranz, Birgitta, Bamborschke, Daniel, Baig, Sabrina, Lange-Sperandio, Barbel, Jungraithmayr, Theresa, Weber, Lutz T., Kemper, Markus J., Toenshoff, Burkhard, Hoyer, Peter F., Konrad, Martin and Weber, Stefanie
(2016).
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
Clin. J. Am. Soc. Nephrol., 11 (2).
S. 245 - 254.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1555-905X
Bergmann, Carsten, von Bothmer, Jennifer, Bruechle, Nadina Ortiz, Venghaus, Andreas, Frank, Valeska, Fehrenbach, Henry, Hampel, Tobias, Pape, Lars ORCID: 0000-0002-3635-6418, Buske, Annegret, Jonsson, Jon, Sarioglu, Nanette, Santos, Antonia, Ferreira, Jose Carlos, Becker, Jan U., Cremer, Reinhold, Hoefele, Julia ORCID: 0000-0002-7917-7129, Benz, Marcus R., Weber, Lutz T., Buettner, Reinhard and Zerres, Klaus
(2011).
Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease.
J. Am. Soc. Nephrol., 22 (11).
S. 2047 - 2057.
WASHINGTON:
AMER SOC NEPHROLOGY.
ISSN 1046-6673