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dr. A.M. van Eerde

dr. A.M. van Eerde

Associate Professor - medical
dr. A.M. van Eerde
  • Section Clinical Genetics

Research Output (85)

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

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. May 2023, In: Kidney International. 103 , p. 986-989 4 p.

Correction:Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)

Savige Judy, Storey Helen, Watson Elizabeth, Hertz Jens Michael, Deltas Constantinos, Renieri Alessandra, 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 Elisabeth, Bierzynska Agnieszka, Gangemi Concetta, Lipska-Ziętkiewicz Beata S. 2023, In: European Journal of Human Genetics.

Medullary sponge kidney: an unsolved enigma and its association with distal renal tubular acidosis

van den Berg Gerrit, Claus Laura, van der Zwaag Bert, Lakeman Phillis, Consortium Genomics England Research, Kaasenbrood Lotte, Sayer J.A., Lilien Marc, van Eerde AM 2023,

Niercysten

Vrieling-Prince F.H.M., Cornelissen E.A.M., van Eerde AM, Mekahli Djalila, Lilien Marc 1 Nov 2022,

NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY

de Haan Amber, Eijgelsheim Mark, Rump Patrick, Van der Zwaag Bert, Zivna Martina, Kmoch Stanislav, Bleyer Anthony, Kidd Kendrah, Van Eerde Albertien M., Knoers Nine, De Borst Martin May 2022, In: Nephrology Dialysis Transplantation. 37 , p. I16-I16

MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT

Muench Johannes, Engesser Marie, Schoenauer Ria, Hamm J. Austin, Akay Gulsen, Tueysuez Beyhan, Shirakawa Toshihiko, Dateki Sumito, Claus Laura, van Eerde Albertien M., Wagner Timo, Bergmann Carsten, Buchan Jillian, Wegner Tara, Posey Jennifer, Lupski James R., Petit Florence, Mccarthy Andrew A., Pazour Gregory J., Lo Cecilia W., Popp Bernt, Halbritter Jan May 2022, In: Nephrology Dialysis Transplantation. 37 , p. i26-i28

Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology:rationale and design of a national prospective cohort study

de Haan Amber, Eijgelsheim Mark, Vogt Liffert, van der Zwaag Bert, van Eerde Albertien M, Knoers Nine V A M, de Borst Martin H 7 Apr 2022, In: BMJ Open. 12 , p. 1-15

Biallelic TMEM72 variants in patients with nephronophthisis-like phenotype

Snoek Rozemarijn, Claus Laura R., Peters Edith D. J., Savelberg Sanne M. C., Duran Karen, van der Veen Suzanne W., Brummelhuis Walter J., Rookmaaker Maarten, van der Zwaag Bert, Nguyen Tri Q., Broekhuizen Roel, Mesnard Laurent, Karras Alexandre, Sadeghi-Alavijeh Omid, Gale Daniel P., Elferink Martin, Oud Machteld M., Faber Siebren, Roepman Ronald, Hildebrandt Friedhelm, Klambt Verena, Knoers Nine V. A. M., Tessadori Federico, van Haaften Gijs W., van Eerde Albertien M. Apr 2022, In: European Journal of Human Genetics. 30 , p. 78-78

KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

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, Schoenauer Ria, Halbritter Jan, Knoers Nine V. A. M., Deelen Patrick, Franke Lude, van Eerde Albertien M. Apr 2022, In: European Journal of Human Genetics. 30 , p. 502-502

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