Identification of human D lactate dehydrogenase deficiency von Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, Jans, Judith J.

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Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants von Bosman, Willem, Franken, Gijs A. C., de las Heras, Javier, Madariaga, Leire, Barakat, Tahsin Stefan, Oostenbrink, Rianne, van Slegtenhorst, Marjon, Perdomo-Ramírez, Ana, Claverie-Martín, Félix, van Eerde, Albertien M., Vargas-Poussou, Rosa, Dubourg, Laurence Derain, González-Recio, Irene, Martínez-Cruz, Luis Alfonso, de Baaij, Jeroen H. F., Hoenderop, Joost G. J.

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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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Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome von Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H, Lilien, Marc R, Oosterveld, Michiel J S, Kreft, Maaike, van Eerde, Albertien M, Pfundt, Rolph, Terhal, Paulien A, van der Zwaag, Bert, Nikkels, Peter G J, Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V A M, Renkema, Kirsten Y, Sonnenberg, Arnoud

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SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects von Dubail, Johanne, Huber, Céline, Chantepie, Sandrine, Sonntag, Stephan, Tüysüz, Beyhan, Mihci, Ercan, Gordon, Christopher T., Steichen-Gersdorf, Elisabeth, Amiel, Jeanne, Nur, Banu, Stolte-Dijkstra, Irene, van Eerde, Albertien M., van Gassen, Koen L., Breugem, Corstiaan C., Stegmann, Alexander, Lekszas, Caroline, Maroofian, Reza, Karimiani, Ehsan Ghayoor, Bruneel, Arnaud, Seta, Nathalie, Munnich, Arnold, Papy-Garcia, Dulce, De La Dure-Molla, Muriel, Cormier-Daire, Valérie

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Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study von de Haan, Amber, Eijgelsheim, Mark, Vogt, Liffert, van der Zwaag, Bert, van Eerde, Albertien M, Knoers, Nine V A M, de Borst, Martin H

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Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct... von Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M, Salo, Antti M, Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F, Bongers, Ernie M H F, Juffer, André, Knoers, Nine V A M, Renkema, Kirsten Y, Myllyharju, Johanna, Vainio, Seppo J

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Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis von Snoek, Rozemarijn, Nguyen, Tri Q., van der Zwaag, Bert, van Zuilen, Arjan D., Kruis, Hannah M.E., van Gils-Verrij, Liesbeth A., Goldschmeding, Roel, Knoers, Nine V.A.M., Rookmaaker, Maarten B., van Eerde, Albertien M.

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Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux von Lu, Weining, van Eerde, Albertien M., Fan, Xueping, Quintero-Rivera, Fabiola, Kulkarni, Shashikant, Ferguson, Heather, Kim, Hyung-Goo, Fan, Yanli, Xi, Qiongchao, Li, Qing-gang, Sanlaville, Damien, Andrews, William, Sundaresan, Vasi, Bi, Weimin, Yan, Jiong, Giltay, Jacques C., Wijmenga, Cisca, de Jong, Tom P. V.M., Feather, Sally A., Woolf, Adrian S., Rao, Yi, Lupski, James R., Eccles, Michael R., Quade, Bradley J., Gusella, James F., Morton, Cynthia C., Maas, Richard L.

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Genetics-first approach improves diagnostics of ESKD patients <50 years old von Snoek, Rozemarijn, van Jaarsveld, Richard H, Nguyen, Tri Q, Peters, Edith D J, Elferink, Martin G, Ernst, Robert F, Rookmaaker, Maarten B, Lilien, Marc R, Spierings, Eric, Goldschmeding, Roel, Knoers, Nine V A M, van der Zwaag, Bert, van Zuilen, Arjan D, van Eerde, Albertien M

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Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA von Viering, Daan, Schlingmann, Karl P, Hureaux, Marguerite, Nijenhuis, Tom, Mallett, Andrew, Chan, Melanie M Y, van Beek, André, van Eerde, Albertien M, Coulibaly, Jean-Marie, Vallet, Marion, Decramer, Stéphane, Pelletier, Solenne, Klaus, Günter, Kömhoff, Martin, Beetz, Rolf, Patel, Chirag, Shenoy, Mohan, Steenbergen, Eric J, Anderson, Glenn, Bongers, Ernie M H F, Bergmann, Carsten, Panneman, Daan, Rodenburg, Richard J, Kleta, Robert, Houillier, Pascal, Konrad, Martin, Vargas-Poussou, Rosa, Knoers, Nine V A M, Bockenhauer, Detlef, de Baaij, Jeroen H F

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Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease von Huynh, Vinh T., Audrézet, Marie-Pierre, Sayer, John A., Ong, Albert C., Lefevre, Siriane, Le Brun, Valoris, Després, Aurore, Senum, Sarah R., Chebib, Fouad T., Barroso-Gil, Miguel, Patel, Chirag, Mallett, Andrew J., Goel, Himanshu, Mallawaarachchi, Amali C., Van Eerde, Albertien M., Ponlot, Eléonore, Kribs, Marc, Le Meur, Yannick, Harris, Peter C., Cornec-Le Gall, Emilie

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Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family von de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., de Borst, Martin H.

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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations von Dollfus, Hélène, Lilien, Marc R., Maffei, Pietro, Verloes, Alain, Muller, Jean, Bacci, Giacomo M., Cetiner, Metin, van den Akker, Erica L. T., Grudzinska Pechhacker, Monika, Testa, Francesco, Lacombe, Didier, Stokman, Marijn F., Simonelli, Francesca, Gouronc, Aurélie, Gavard, Amélie, van Haelst, Mieke M., Koenig, Jens, Rossignol, Sylvie, Bergmann, Carsten, Zacchia, Miriam, Leroy, Bart P., Mosbah, Héléna, Van Eerde, Albertien M., Mekahli, Djalila, Servais, Aude, Poitou, Christine, Valverde, Diana

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Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling von Gosselink, Margriet E., Snoek, Rozemarijn, Cerkauskaite-Kerpauskiene, Agne, van Bakel, Sophie P.J., Vollenberg, Renee, Groen, Henk, Cerkauskiene, Rimante, Miglinas, Marius, Attini, Rossella, Tory, Kálmán, Claes, Kathleen J., van Calsteren, Kristel, Servais, Aude, de Jong, Margriet F.C., Gillion, Valentine, Vogt, Liffert, Mastrangelo, Antonio, Furlano, Monica, Torra, Roser, Bramham, Kate, Wiles, Kate, Ralston, Elizabeth R., Hall, Matthew, Liu, Lisa, Hladunewich, Michelle A., Lely, A. Titia, van Eerde, Albertien M.

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Preimplantation Genetic Testing for Monogenic Kidney Disease von Snoek, Rozemarijn, Stokman, Marijn F, Lichtenbelt, Klaske D, van Tilborg, Theodora C, Simcox, Cindy E, Paulussen, Aimée D C, Dreesen, Jos C M F, van Reekum, Franka, Lely, A Titia, Knoers, Nine V A M, de Die-Smulders, Christine E M, van Eerde, Albertien M

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Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin von de Haan, Amber, Eijgelsheim, Mark, Vogt, Liffert, Hoorn, Ewout J, Rotmans, Joris I, Fortrie, Gijs, Marsman, Roos F J, Rothuizen, Tonia C, Spijker, H Siebe, Claus, Laura R, Konings, Constantijn J A M, Waanders, Femke, Doornebal, Joan, Kramer, Andrea B, Adema, Aaltje Y, van der Zwaag, Bert, van Eerde, Albertien M, Knoers, Nine V A M, de Borst, Martin H

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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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Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT von Nicolaou, Nayia, Pulit, Sara L., Nijman, Isaac J., Monroe, Glen R., Feitz, Wout F.J., Schreuder, Michiel F., van Eerde, Albertien M., de Jong, Tom P.V.M., Giltay, Jacques C., van der Zwaag, Bert, Havenith, Marlies R., Zwakenberg, Susan, van der Zanden, Loes F.M., Poelmans, Geert, Cornelissen, Elisabeth A.M., Lilien, Marc R., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M., Cuppen, Edwin, Bongers, Ernie M.H.F., Giles, Rachel H., Knoers, Nine V.A.M., Renkema, Kirsten Y.

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Management of a Giant Omphalocele with Non–Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy von Travassos, Daisy Vieira, van Eerde, Albertien M., Kramer, William L.M.

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