Rare inherited kidney diseases: challenges, opportunities, and perspectives von Devuyst, Olivier, Prof, Knoers, Nine V A M, Prof, Remuzzi, Giuseppe, Prof, Schaefer, Franz, Prof

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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes von Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C. M., Gemert, Lisette, Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V. A. M., Koeleman, Bobby P. C., Brilstra, Eva H.

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Drug Repurposing for Rare Diseases von Roessler, Helen I., Knoers, Nine V.A.M., van Haelst, Mieke M., van Haaften, Gijs

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The term CAKUT has outlived its usefulness: the case for the defense von Knoers, Nine V. A. M.

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What’s in a name? That which we call diabetes does not taste sweet von Bockenhauer, Detlef, Knoers, Nine V. A. M., Bichet, Daniel G.

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Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract von Westland, Rik, Renkema, Kirsten Y, Knoers, Nine V A M

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Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference von Blanchard, Anne, Bockenhauer, Detlef, Bolignano, Davide, Calò, Lorenzo A., Cosyns, Etienne, Devuyst, Olivier, Ellison, David H., Karet Frankl, Fiona E., Knoers, Nine V.A.M., Konrad, Martin, Lin, Shih-Hua, Vargas-Poussou, Rosa

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Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics von de Boer, Eddy N., Vroom, Vincent, Scheper, Arjen J., Johansson, Lennart F., Bosscher, Laura, Rietema, Nettie, Commandeur-Jan, Sabrina Z., Knoers, Nine V. A. M., Sikkema-Raddatz, Birgit, van den Berg, Eva, van Diemen, Cleo C.

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Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome von Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.

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An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the Europe... von Müller, Roman-Ulrich, Messchendorp, A Lianne, Birn, Henrik, Capasso, Giovambattista, Cornec-Le Gall, Emilie, Devuyst, Olivier, van Eerde, Albertien, Guirchoun, Patrick, Harris, Tess, Hoorn, Ewout J, Knoers, Nine V A M, Korst, Uwe, Mekahli, Djalila, Le Meur, Yannick, Nijenhuis, Tom, Ong, Albert C M, Sayer, John A, Schaefer, Franz, Servais, Aude, Tesar, Vladimir, Torra, Roser, Walsh, Stephen B, Gansevoort, Ron T

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Congenital nephrogenic diabetes insipidus: the current state of affairs von Wesche, Daniel, Deen, Peter M. T., Knoers, Nine V. A. M.

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 von Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.

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Current insights into renal ciliopathies: what can genetics teach us? von Arts, Heleen H., Knoers, Nine V. A. M.

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome von Roepman, Ronald, Arts, Heleen H, Doherty, Dan, van Beersum, Sylvia E C, Parisi, Melissa A, Letteboer, Stef J F, Gorden, Nicholas T, Peters, Theo A, Märker, Tina, Voesenek, Krysta, Kartono, Aileen, Ozyurek, Hamit, Farin, Federico M, Kroes, Hester Y, Wolfrum, Uwe, Brunner, Han G, Cremers, Frans P M, Glass, Ian A, Knoers, Nine V A M

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome von Bicknell, Louise S, Bongers, Ernie M H F, Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E, Aftimos, Salim, Al-Aama, Jumana Y, Bober, Michael, Brown, Paul A J, van Bokhoven, Hans, Dean, John, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H, Kau, Nikolaus, Knoers, Nine V A M, MacKenzie, James, Opitz, John M, Sarda, Pierre, Ross, Alison, Temple, I Karen, Toutain, Annick, Wise, Carol A, Wright, Michael, Jackson, Andrew P

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The genomic landscape of CAKUT; you gain some, you lose some von Knoers, Nine V.A.M., Renkema, Kirsten Y.

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KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease von Boulogne, Floranne, Claus, Laura R, Wiersma, Henry, Oelen, Roy, Schukking, Floor, de Klein, Niek, Li, Shuang, Westra, Harm-Jan, van der Zwaag, Bert, van Reekum, Franka, Sierks, Dana, Schönauer, Ria, Li, Zhigui, Bijlsma, Emilia K, Bos, Willem Jan W, Halbritter, Jan, Knoers, Nine V A M, Besse, Whitney, Deelen, Patrick, Franke, Lude, van Eerde, Albertien M

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Recommendations on single‐cell RNA sequencing of skin xenografts in the study of genetic skin diseases von Vermeer, Franciscus C., Bolling, Marieke C., Knoers, Nine V. A. M., Akker, Peter C., Bremer, Jeroen

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Ethical, Legal, and Counseling Challenges Surrounding the Return of Genetic Results in Oncology von Lolkema, Martijn P, Gadellaa-van Hooijdonk, Christa G, Bredenoord, Annelien L, Kapitein, Peter, Roach, Nancy, Cuppen, Edwin, Knoers, Nine V, Voest, Emile E

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Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes von de Lange, Iris M., Koudijs, Marco J., Slot, Ruben, Gunning, Boudewijn, Sonsma, Anja C. M., van Gemert, Lisette J. J. M., Mulder, Flip, Carbo, Ellen C., van Kempen, Marjan J. A., Verbeek, Nienke E., Nijman, Isaac J., Ernst, Robert F., Savelberg, Sanne M. C., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.

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