A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance von Hageman, Isabel C, van Rooij, Iris A L M, de Blaauw, Ivo, Trajanovska, Misel, King, Sebastian K

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Genome-wide association analyses identify variants in developmental genes associated with hypospadias von Geller, Frank, Feenstra, Bjarke, Carstensen, Lisbeth, Pers, Tune H, van Rooij, Iris A L M, Körberg, Izabella Baranowska, Choudhry, Shweta, Karjalainen, Juha M, Schnack, Tine H, Hollegaard, Mads V, Feitz, Wout F J, Roeleveld, Nel, Hougaard, David M, Hirschhorn, Joel N, Franke, Lude, Baskin, Laurence S, Nordenskjöld, Agneta, van der Zanden, Loes F M, Melbye, Mads

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Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study von Groen in 't Woud, Sander, Renkema, Kirsten Y., Schreuder, Michiel F., Wijers, Charlotte H.W., van der Zanden, Loes F.M., Knoers, Nine V.A.M., Feitz, Wout F.J., Bongers, Ernie M.H.F., Roeleveld, Nel, van Rooij, Iris A.L.M.

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Vitamin and homocysteine status of mothers and infants and the risk of nonsyndromic orofacial clefts von van Rooij, Iris A.L.M, Swinkels, Dorine W, Blom, Henk J, Merkus, Hans M.W.M, Steegers-Theunissen, Régine P.M

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Risk factors for different phenotypes of hypospadias: results from a Dutch case–control study von Rooij, Iris A.L.M., Zanden, Loes F.M., Brouwers, Marijn M., Knoers, Nine V.A.M., Feitz, Wout F.J., Roeleveld, Nel

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First results of a European multi-center registry of patients with anorectal malformations von de Blaauw, Ivo, Wijers, Charlotte H.W, Schmiedeke, Eberhard, Holland-Cunz, Stefan, Gamba, Piergiorgio, Marcelis, Carlo L.M, Reutter, Heiko, Aminoff, Dalia, Schipper, Muriel, Schwarzer, Nicole, Grasshoff-Derr, Sabine, Midrio, Paola, Jenetzky, Ekkehart, van Rooij, Iris A.L.M

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Long-term follow-up of functional outcome in patients with a cloacal malformation: A systematic review von Versteegh, Hendt P, van Rooij, Iris A.L.M, Levitt, Marc A, Sloots, Cornelius E.J, Wijnen, Rene M.H, de Blaauw, Ivo

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Common variants in DGKK are strongly associated with risk of hypospadias von Franke, Barbara, van der Zanden, Loes F M, van Rooij, Iris A L M, Feitz, Wout F J, Knight, Jo, Donders, A Rogier T, Renkema, Kirsten Y, Bongers, Ernie M H F, Vermeulen, Sita H H M, Kiemeney, Lambertus A L M, Veltman, Joris A, Arias-Vásquez, Alejandro, Zhang, Xufeng, Markljung, Ellen, Qiao, Liang, Baskin, Laurence S, Nordenskjöld, Agneta, Roeleveld, Nel, Knoers, Nine V A M

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The Australia New Zealand Congenital Colorectal Registry (ANZCCoRe): Driving innovation through collaboration von Hageman, Isabel C., Trajanovska, Misel, van Rooij, Iris A.L.M., de Blaauw, Ivo, King, Sebastian K.

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Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations von Wijers, Charlotte H.W., van Rooij, Iris A.L.M., Rassouli, Roxana, Wijnen, Marc H., Broens, Paul M.A., Sloots, Cornelius E.J., Brunner, Han G., de Blaauw, Ivo, Roeleveld, Nel

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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated cla... von Reutter, Heiko, Draaken, Markus, Pennimpede, Tracie, Wittler, Lars, Brockschmidt, Felix F, Ebert, Anne-Karolin, Bartels, Enrika, Rösch, Wolfgang, Boemers, Thomas M, Hirsch, Karin, Schmiedeke, Eberhard, Meesters, Christian, Becker, Tim, Stein, Raimund, Utsch, Boris, Mangold, Elisabeth, Nordenskjöld, Agneta, Barker, Gillian, Kockum, Christina Clementsson, Zwink, Nadine, Holmdahl, Gundula, Läckgren, Göran, Jenetzky, Ekkehart, Feitz, Wouter F J, Marcelis, Carlo, Wijers, Charlotte H W, Van Rooij, Iris A L M, Gearhart, John P, Herrmann, Bernhard G, Ludwig, Michael, Boyadjiev, Simeon A, Nöthen, Markus M, Mattheisen, Manuel

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CDH12 as a Candidate Gene for Kidney Injury in Posterior Urethral Valve Cases: A Genome-wide Association Study Among Patients with Obstructive Uropathies von van der Zanden, Loes F.M., van Rooij, Iris A.L.M., Quaedackers, Josine S.L.T., Nijman, Rien J.M., Steffens, Martijn, de Wall, Liesbeth L.L., Bongers, Ernie M.H.F., Schaefer, Franz, Kirchner, Marietta, Behnisch, Rouven, Bayazit, Aysun K., Caliskan, Salim, Obrycki, Lukasz, Montini, Giovanni, Duzova, Ali, Wuttke, Matthias, Jennings, Rachel, Hanley, Neil A., Milmoe, Natalie J., Winyard, Paul J.D., Renkema, Kirsten Y., Schreuder, Michiel F., Roeleveld, Nel, Feitz, Wout F.J.

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Maternal Nutritional Status and the Risk for Orofacial Cleft Offspring in Humans von Krapels, Ingrid P.C., van Rooij, Iris A.L.M., Ocké, Marga C., West, Clive E., van der Horst, Chantal M.A.M., Steegers-Theunissen, Régine P.M.

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Reproductive disorders among male and female greenhouse workers von Bretveld, Reini W., Hooiveld, Mariëtte, Zielhuis, Gerhard A., Pellegrino, Annelies, van Rooij, Iris A.L.M., Roeleveld, Nel

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Marginal maternal vitamin B 12 status increases the risk of offspring with spina bifida von Groenen, Pascal M.W, van Rooij, Iris A.L.M, Peer, Petronella G.M, Gooskens, Rob H, Zielhuis, Gerhard A, Steegers-Theunissen, Régine P.M

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Surgical Complications in Children with CDH: A Multivariate Analysis von Heiwegen, Kim, van Rooij, Iris A. L. M., van Heijst, Arno, de Blaauw, Ivo, Botden, Sanne M. B. I.

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Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases von Smits, Rosanne M, Vissers, Eline, Te Pas, Rosan, Roebbers, Noor, Feitz, Wout F J, van Rooij, Iris A L M, de Blaauw, Ivo, Verhaak, Chris M

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Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study von van der Steeg, Hendrik J.J., van Rooij, Iris A.L.M., Iacobelli, Barbara D., Sloots, Cornelius E.J., Morandi, Anna, Broens, Paul M.A., Makedonsky, Igor, Leon, Francesco Fascetti, Schmiedeke, Eberhard, Vázquez, Araceli García, Miserez, Marc, Lisi, Gabriele, Midrio, Paola, Amerstorfer, Eva E., Fanjul, Maria, Ludwiczek, Johanna, Stenström, Pernilla, van der Steeg, Alida F.W., de Blaauw, Ivo

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Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association von Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Yung Gee, Heon, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Märzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöthen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm

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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations von Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E., Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B., White-Brown, Alexandre M., Carter, Melissa T., Richer, Julie, Armour, Christine M., Sawyer, Sarah L., Bhola, Priya T., Tedder, Matthew L., Skinner, Cindy D., van Rooij, Iris A.L.M., van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M., Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M., Sadikovic, Bekim

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