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drs. E. van Noordman

drs. E. van Noordman

Associate Professor - medical
drs. E. van Noordman
  • Section Clinical Genetics

Research Output (70)

Guidelines for Genetic Testing and Management of Alport Syndrome

Savige Judy, Lipska-Zietkiewicz Beata S, Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Mari Francesca, Hilbert Pascale, Plevova Pavlina, Byers Peter, Cerkauskaite Agne, Gregory Martin, Cerkauskiene Rimante, Ljubanovic Danica Galesic, Becherucci Francesca, Errichiello Carmela, Massella Laura, Aiello Valeria, Lennon Rachel, Hopkinson Louise, Koziell Ania, Lungu Adrian, Rothe Hansjorg Martin, Hoefele Julia, Zacchia Miriam, Martic Tamara Nikuseva, Gupta Asheeta, van Eerde Albertien, Gear Susie, Landini Samuela, Palazzo Viviana, Al-Rabadi Laith, Claes Kathleen, Corveleyn Anniek, Van Hoof Evelien, van Geel Micheel, Williams Maggie, Ashton Emma, Belge Hendica, Ars Elisabet, Bierzynska Agnieszka, Gangemi Concetta, Renieri Alessandra, Storey Helen, Flinter Frances 20 Dec 2021, In: Clinical Journal of the American Society of Nephrology. 17 , p. 143-154 12 p.

Genetics-first approach improves diagnostics of ESKD patients <50 years old

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 11 Dec 2020, In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 37 , p. 349-357 9 p.

Preimplantation Genetic Testing for Monogenic Kidney Disease

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 27 Aug 2020, In: Clinical Journal of the American Society of Nephrology. 15 , p. 1279-1286 8 p.

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

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, Aug 2020, In: Kidney International. 98 , p. 476-487 12 p.

Pregnancy in Advanced Kidney Disease:Clinical Practice Considerations on a Challenging Combination

Snoek Rozemarijn, van der Graaf Rieke, Meinderts Jildau R, van Reekum Franka, Bloemenkamp Kitty W M, Knoers Nine V A M, van Eerde Albertien M, Lely A Titia 1 Apr 2020, In: Nephron. 144 , p. 185-189 5 p.

Defects in t<sup>6</sup>A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Arrondel Christelle, Missoury Sophia, Snoek Rozemarijn, Patat Julie, Menara Giulia, Collinet Bruno, Liger Dominique, Durand Dominique, Gribouval Olivier, Boyer Olivia, Buscara Laurine, Martin Gaëlle, Machuca Eduardo, Nevo Fabien, Lescop Ewen, Braun Daniela A., Boschat Anne Claire, Sanquer Sylvia, Guerrera Ida Chiara, Revy Patrick, Parisot Mélanie, Masson Cécile, Boddaert Nathalie, Charbit Marina, Decramer Stéphane, Novo Robert, Macher Marie Alice, Ranchin Bruno, Bacchetta Justine, Laurent Audrey, Collardeau-Frachon Sophie, van Eerde Albertien M., Hildebrandt Friedhelm, Magen Daniella, Antignac Corinne, van Tilbeurgh Herman, Mollet Géraldine 1 Dec 2019, In: Nature Communications. 10

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis

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 16 May 2019, In: Nephron. 142 , p. 351-358 8 p.

Identification of human D lactate dehydrogenase deficiency

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 1 Apr 2019, In: Nature Communications. 10

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Jansen Sandra, van der Werf Ilse M., Innes A. Micheil, Afenjar Alexandra, Agrawal Pankaj B., Anderson Ilse J., Atwal Paldeep S., van Binsbergen Ellen, van den Boogaard Marie José, Castiglia Lucia, Coban-Akdemir Zeynep H., van Dijck Anke, Doummar Diane, van Eerde Albertien M., van Essen Anthonie J., van Gassen Koen L., Guillen Sacoto Maria J., van Haelst Mieke M., Iossifov Ivan, Jackson Jessica L., Judd Elizabeth, Kaiwar Charu, Keren Boris, Klee Eric W., Klein Wassink-Ruiter Jolien S., Meuwissen Marije E., Monaghan Kristin G., de Munnik Sonja A., Nava Caroline, Ockeloen Charlotte W., Pettinato Rosa, Racher Hilary, Rinne Tuula, Romano Corrado, Sanders Victoria R., Schnur Rhonda E., Smeets Eric J., Stegmann Alexander P.A., Stray-Pedersen Asbjørg, Sweetser David A., Terhal Paulien A., Tveten Kristian, VanNoy Grace E., de Vries Petra F., Waxler Jessica L., Willing Marcia, Pfundt Rolph, Veltman Joris A., Kooy R. Frank, Vissers Lisenka E.L.M., de Vries Bert B.A. 1 Jan 2019, In: European Journal of Human Genetics. 27 , p. 738-746 9 p.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

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 1 Dec 2018, In: Nature Communications. 9

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