Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome von Kummeling, Joost, Stremmelaar, Diante E., Raun, Nicholas, Reijnders, Margot R. F., Willemsen, Marjolein H., Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C. O., Gilissen, Christian, Cho, Megan T., McWalter, Kirsty, Sinnema, Margje, Wheless, James W., Simon, Marleen E. H., Genetti, Casie A., Casey, Alicia M., Terhal, Paulien A., van der Smagt, Jasper J., van Gassen, Koen L. I., Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A., Agrawal, Pankaj B., Hoffman, Trevor L., Powell-Hamilton, Nina N., Thiffault, Isabelle, Engleman, Kendra, Zhou, Dihong, Bodamer, Olaf, Hoefele, Julia, Riedhammer, Korbinian M., Schwaibold, Eva M. C., Tasic, Velibor, Schubert, Dirk, Top, Deniz, Pfundt, Rolph, Higgs, Martin R., Kramer, Jamie M., Kleefstra, Tjitske

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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1 von Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Abou Jamra, Rami

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De novo variants in neurodevelopmental disorders—experiences from a tertiary care center von Brunet, Theresa, Jech, Robert, Brugger, Melanie, Kovacs, Reka, Alhaddad, Bader, Leszinski, Gloria, Riedhammer, Korbinian M., Westphal, Dominik S., Mahle, Isabella, Mayerhanser, Katharina, Skorvanek, Matej, Weber, Sandrina, Graf, Elisabeth, Berutti, Riccardo, Necpál, Ján, Havránková, Petra, Pavelekova, Petra, Hempel, Maja, Kotzaeridou, Urania, Hoffmann, Georg F., Leiz, Steffen, Makowski, Christine, Roser, Timo, Schroeder, Sebastian A., Steinfeld, Robert, Strobl‐Wildemann, Gertrud, Hoefele, Julia, Borggraefe, Ingo, Distelmaier, Felix, Strom, Tim M., Winkelmann, Juliane, Meitinger, Thomas, Zech, Michael, Wagner, Matias

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Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome von Büscher, Anja K, Beck, Bodo B, Melk, Anette, Hoefele, Julia, Kranz, Birgitta, Bamborschke, Daniel, Baig, Sabrina, Lange-Sperandio, Bärbel, Jungraithmayr, Theresa, Weber, Lutz T, Kemper, Markus J, Tönshoff, Burkhard, Hoyer, Peter F, Konrad, Martin, Weber, Stefanie

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Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease von BERGMANN, Carsten, VON BOTHMER, Jennifer, SARIOGLU, Nanette, SANTOS, Antónia, FERREIRA, Jose Carlos, BECKER, Jan U, CREAMER, Reinhold, HOEFELE, Julia, BENZ, Marcus R, WEBER, Lutz T, BUETTNER, Reinhard, ZERRES, Klaus, ORTIZ BRÜCHLE, Nadina, VENGHAUS, Andreas, FRANK, Valeska, FEHRENBACH, Henry, HAMPEL, Tobias, PAPE, Lars, BUSKE, Annegret, JONSSON, Jon

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The 2019 and 2021 International Workshops on Alport Syndrome von Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra

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Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS von Braunisch, Matthias Christoph, Riedhammer, Korbinian Maria, Herr, Pierre-Maurice, Draut, Sarah, Guenthner, Roman, Wagner, Matias, Weidenbusch, Marc, Lungu, Adrian, Alhaddad, Bader, Renders, Lutz, Strom, Tim M., Heemann, Uwe, Meitinger, Thomas, Schmaderer, Christoph, Hoefele, Julia

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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation von Schneider, Ronen, Deutsch, Konstantin, Hoeprich, Gregory J., Marquez, Jonathan, Hermle, Tobias, Braun, Daniela A., Seltzsam, Steve, Kitzler, Thomas M., Mao, Youying, Buerger, Florian, Majmundar, Amar J., Onuchic-Whitford, Ana C., Kolvenbach, Caroline M., Schierbaum, Luca, Schneider, Sophia, Halawi, Abdul A., Nakayama, Makiko, Mann, Nina, Connaughton, Dervla M., Klämbt, Verena, Wagner, Matias, Riedhammer, Korbinian M., Renders, Lutz, Katsura, Yoshichika, Thumkeo, Dean, Soliman, Neveen A., Mane, Shrikant, Lifton, Richard P., Shril, Shirlee, Khokha, Mustafa K., Hoefele, Julia, Goode, Bruce L., Hildebrandt, Friedhelm

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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans von Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J

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Editorial: Genetics and epigenetics of chronic kidney disease von Hoefele, Julia, Rao, Jia, Mallett, Andrew J

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Precise variant interpretation, phenotype ascertainment, and genotype–phenotype correlation of children in the EARLY PRO‐TECT Alport trial von Boeckhaus, Jan, Hoefele, Julia, Riedhammer, Korbinian M., Tönshoff, 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, Gross, Oliver

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MAP2 - A Candidate Gene for Epilepsy, Developmental Delay and Behavioral Abnormalities in a Patient With Microdeletion 2q34 von Westphal, Dominik S, Andres, Stephanie, Makowski, Christine, Meitinger, Thomas, Hoefele, Julia

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination von Obara, Tomoko, Hoefele, Julia, Nivet, Hubert, Otto, Edgar A, O'Toole, John F, Gagnadoux, Marie F, Kispert, Andreas, Hildebrandt, Friedhelm, Ruf, Rainer G, Beekmann, Frank, Strachan, Tom, Walz, Gerd, Schermer, Bernhard, Mueller, Adelheid M, Drummond, Iain A, Landau, Daniel, Foreman, John W, Wolf, Matthias T, Antignac, Corinne, Benzing, Thomas, Hiller, Karl S, Goodship, Judith A

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Mosaic trisomy 12 diagnosed in a female patient: clinical features, genetic analysis, and review of the literature von Hainz, Daniela, Krüger, Marcus, Reber, Daniela, Mehnert, Karl, Brunet, Theresa, Lederer, Gabriele, Langer-Freitag, Sabine, Hoefele, Julia

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Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing von Stippel, Michaela, Riedhammer, Korbinian M., Lange-Sperandio, Barbel, Gessner, Michaela, Braunisch, Matthias C., Gunthner, Roman, Bald, Martin, Schmidts, Miriam, Strotmann, Peter, Tasic, Velibor, Schmaderer, Christoph, Renders, Lutz, Heemann, Uwe, Hoefele, Julia

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Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1 von Hoefele, Julia, Wilhelm, Christian, Schiesser, Monika, Mack, Reinhold, Heinrich, Uwe, Weber, Lutz T., Biskup, Saskia, Daumer-Haas, Cornelia, Klein, Hanns-Georg, Rost, Imma

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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases von Najafi, Maryam, Riedhammer, Korbinian M., Rad, Aboulfazl, Torbati, Paria Najarzadeh, Berutti, Riccardo, Schüle, Isabel, Schroda, Sophie, Meitinger, Thomas, Ćomić, Jasmina, Bojd, Simin Sadeghi, Baranzehi, Tayebeh, Shojaei, Azadeh, Azarfar, Anoush, Khazaei, Mahmood Reza, Köttgen, Anna, Backofen, Rolf, Karimiani, Ehsan Ghayoor, Hoefele, Julia, Schmidts, Miriam

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The Hypomorphic Variant p.(Gly624Asp) in COL4A5 as a Possible Cause for an Unexpected Severe Phenotype in a Family With X-Linked Alport Syndrome von Macheroux, Eva Pauline, Braunisch, Matthias C, Pucci Pegler, Stephanie, Satanovskij, Robin, Riedhammer, Korbinian M, Günthner, Roman, Gross, Oliver, Nagel, Mato, Renders, Lutz, Hoefele, Julia

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The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience von Ćomić, Jasmina, Riedhammer, Korbinian M., Günthner, Roman, Schaaf, Christian W., Richthammer, Patrick, Simmendinger, Hannes, Kieffer, Donald, Berutti, Riccardo, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Putnik, Jovana, Stajic, Nataša, Lungu, Adrian, Gross, Oliver, Renders, Lutz, Heemann, Uwe, Braunisch, Matthias C., Meitinger, Thomas, Hoefele, Julia

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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age von Günthner, Roman, Knipping, Lea, Jeruschke, Stefanie, Satanoskij, Robin, Lorenz-Depiereux, Bettina, Hemmer, Clara, Braunisch, Matthias C., Riedhammer, Korbinian M., Ćomić, Jasmina, Tönshoff, Burkhard, Tasic, Velibor, Abazi-Emini, Nora, Nushi-Stavileci, Valbona, Buiting, Karin, Gjorgjievski, Nikola, Momirovska, Ana, Patzer, Ludwig, Kirschstein, Martin, Gross, Oliver, Lungu, Adrian, Weber, Stefanie, Renders, Lutz, Heemann, Uwe, Meitinger, Thomas, Büscher, Anja K., Hoefele, Julia

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