Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus von Jiang, Simon H., Athanasopoulos, Vicki, Ellyard, Julia I., Chuah, Aaron, Cappello, Jean, Cook, Amelia, Prabhu, Savit B., Cardenas, Jacob, Gu, Jinghua, Stanley, Maurice, Roco, Jonathan A., Papa, Ilenia, Yabas, Mehmet, Walters, Giles D., Burgio, Gaetan, McKeon, Kathryn, Byers, James M., Burrin, Charlotte, Enders, Anselm, Miosge, Lisa A., Canete, Pablo F., Jelusic, Marija, Tasic, Velibor, Lungu, Adrian C., Alexander, Stephen I., Kitching, Arthur R., Fulcher, David A., Shen, Nan, Arsov, Todor, Gatenby, Paul A., Babon, Jeff J., Mallon, Dominic F., de Lucas Collantes, Carmen, Stone, Eric A., Wu, Philip, Field, Matthew A., Andrews, Thomas D., Cho, Eun, Pascual, Virginia, Cook, Matthew C., Vinuesa, Carola G.

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract von Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm

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The Rationale of Complement Blockade of the MCPggaac Haplotype following Atypical Hemolytic Uremic Syndrome of Three Southeastern European Countries with a Literature Review von Turudic, Daniel, Pokrajac, Danka, Tasic, Velibor, Kasumovic, Dino, Prohaszka, Zoltan, Milosevic, Danko

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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points von Trepiccione, Francesco, Walsh, Steven B, Ariceta, Gema, Boyer, Olivia, Emma, Francesco, Camilla, Roberta, Ferraro, Pietro Manuel, Haffner, Dieter, Konrad, Martin, Levtchenko, Elena, Lopez-Garcia, Sergio Camilo, Santos, Fernando, Stabouli, Stella, Szczepanska, Maria, Tasic, Velibor, Topaloglu, Rezan, Vargas-Poussou, Rosa, Wlodkowski, Tanja, Bockenhauer, Detlef

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Nephropathic Cystinosis — A Gap between Developing and Developed Nations von Bertholet-Thomas, Aurelia, Bacchetta, Justine, Tasic, Velibor, Cochat, Pierre

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Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum von Keppler-Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L., Sutton, V. Reid, Tasic, Velibor, Graham Jr, John M., Geer Jr, Joseph, Henderson, Alex, Semple, Robert K., Biesecker, Leslie G.

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Rare heterozygous GDF6 variants in patients with renal anomalies von Martens, Helge, Hennies, Imke, Getwan, Maike, Christians, Anne, Weiss, Anna-Carina, Brand, Frank, Gjerstad, Ann Christin, Christians, Arne, Gucev, Zoran, Geffers, Robert, Seeman, Tomáš, Kispert, Andreas, Tasic, Velibor, Bjerre, Anna, Lienkamp, Soeren S, Haffner, Dieter, Weber, Ruthild G

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The implications of complexity, systems thinking and philosophy for pediatricians von Ehrich, Jochen, Manemann, Jürgen, Tasic, Velibor, DeSanto, Natale Gaspare

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT) von Wu, Chen-Han Wilfred, Mann, Nina, Nakayama, Makiko, Connaughton, Dervla M., Dai, Rufeng, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Wang, Chunyan, Klämbt, Verena, Seltzsam, Steve, Lai, Ethan W., Selvin, Aravind, Senguttuva, Prabha, Bodamer, Olaf, Stein, Deborah R., El Desoky, Sherif, Kari, Jameela A., Tasic, Velibor, Bauer, Stuart B., Shril, Shirlee, Hildebrandt, Friedhelm

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Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development von Vivante, Asaf, Kleppa, Marc-Jens, Schulz, Julian, Kohl, Stefan, Sharma, Amita, Chen, Jing, Shril, Shirlee, Hwang, Daw-Yang, Weiss, Anna-Carina, Kaminski, Michael M., Shukrun, Rachel, Kemper, Markus J., Lehnhardt, Anja, Beetz, Rolf, Sanna-Cherchi, Simone, Verbitsky, Miguel, Gharavi, Ali G., Stuart, Helen M., Feather, Sally A., Goodship, Judith A., Goodship, Timothy H.J., Woolf, Adrian S., Westra, Sjirk J., Doody, Daniel P., Bauer, Stuart B., Lee, Richard S., Adam, Rosalyn M., Lu, Weining, Reutter, Heiko M., Kehinde, Elijah O., Mancini, Erika J., Lifton, Richard P., Tasic, Velibor, Lienkamp, Soeren S., Jüppner, Harald, Kispert, Andreas, Hildebrandt, Friedhelm

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Identification of a dysfunctional exon-skipping splice variant in GLUT9 / SLC2A9 causal for renal hypouricemia type 2 von Toyoda, Yu, Cho, Sung Kweon, Tasic, Velibor, Pavelcová, Kateřina, Bohatá, Jana, Suzuki, Hiroshi, David, Victor A, Yoon, Jaeho, Pallaiova, Anna, Šaligová, Jana, Nousome, Darryl, Cachau, Raul, Winkler, Cheryl A, Takada, Tappei, Stibůrková, Blanka

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Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract von Hwang, Daw-Yang, Kohl, Stefan, Fan, Xueping, Vivante, Asaf, Chan, Stefanie, Dworschak, Gabriel C., Schulz, Julian, van Eerde, Albertien M., Hilger, Alina C., Gee, Heon Yung, Pennimpede, Tracie, Herrmann, Bernhard G., van de Hoek, Glenn, Renkema, Kirsten Y., Schell, Christoph, Huber, Tobias B., Reutter, Heiko M., Soliman, Neveen A., Stajic, Natasa, Bogdanovic, Radovan, Kehinde, Elijah O., Lifton, Richard P., Tasic, Velibor, Lu, Weining, Hildebrandt, Friedhelm

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The Child Health Care System of Macedonia von Tasic, Velibor, MD, Danilovski, Dragan, MD, Gucev, Zoran, MD

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Dent-2 Disease: A Mild Variant of Lowe Syndrome von Bökenkamp, Arend, MD, PhD, Böckenhauer, Detlef, MD, PhD, Cheong, Hae Il, MD, PhD, Hoppe, Bernd, MD, PhD, Tasic, Velibor, MD, Unwin, Robert, MD, PhD, Ludwig, Michael, PhD

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Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans von Stajkovska, Aleksandra, Mehandziska, Sanja, Stavrevska, Margarita, Jakovleva, Kristina, Nikchevska, Natasha, Mitrev, Zan, Kungulovski, Ivan, Zafiroski, Gjorgje, Tasic, Velibor, Kungulovski, Goran

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Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction von Bockenhauer, Detlef, Bokenkamp, Arend, van't Hoff, William, Levtchenko, Elena, Kist-van Holthe, Joana E, Tasic, Velibor, Ludwig, Michael

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Clinical and functional characterization of URAT1 variants von Tasic, Velibor, Hynes, Ann Marie, Kitamura, Kenichiro, Cheong, Hae Il, Lozanovski, Vladimir J, Gucev, Zoran, Jutabha, Promsuk, Anzai, Naohiko, Sayer, John A

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Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population von Stiburkova, Blanka, Bohatá, Jana, Pavelcová, Kateřina, Tasic, Velibor, Plaseska-Karanfilska, Dijana, Cho, Sung-Kweon, Potočnaková, Ludmila, Šaligová, Jana

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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, Bärbel, Geßner, Michaela, Braunisch, Matthias C., Günthner, Roman, Bald, Martin, Schmidts, Miriam, Strotmann, Peter, Tasic, Velibor, Schmaderer, Christoph, Renders, Lutz, Heemann, Uwe, Hoefele, Julia

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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions von Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, Hildebrandt, Friedhelm

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