Research ExplorerScientific StaffAmelie Theresa Van der Ven Publications

Dr.med. ID: 6218911

Amelie Theresa Van der Ven

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Publications

  1. 2024

  2. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

    Brunet, T., Zott, B., Lieftüchter, V., Lenz, D., Schmidt, A., Peters, P., Kopajtich, R., Zaddach, M., Zimmermann, H., Hüning, I., Ballhausen, D., Staufner, C., Bianzano, A., Hughes, J., Taylor, R. W., McFarland, R., Devlin, A., Mihaljević, M., Barišić, N., Rohlfs, M., Wilfling, S., Sondheimer, N., Hewson, S., Marinakis, N. M., Kosma, K., Traeger-Synodinos, J., Elbracht, M., Begemann, M., Trepels-Kottek, S., Hasan, D., Scala, M., Capra, V., Zara, F., van der Ven, A. T., Driemeyer, J., Apitz, C., Krämer, J., Strong, A., Hakonarson, H., Watson, D., Mayr, J. A., Prokisch, H., Meitinger, T., Borggraefe, I., Spiegler, J., Baric, I., Paolini, M., Gerstl, L. & Wagner, M., 02.2024, In: GENET MED. 26, 2, 101013.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. 2023

  4. Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease

    van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

    Kolvenbach, C. M., Zheng, B., Merz, L. M., Mertens, N. D., Mansour, B., Wang, C., Seltzsam, S., Schneider, S., Schierbaum, L., Pantel, D., Chen, J., van der Ven, A. T., Bello, J. O., Shril, S. & Hildebrandt, F., 05.2023, In: AM J MED GENET A. 191, 5, p. 1355-1359 5 p.

    Research output: SCORING: Contribution to journal › Case report › Research › peer-review

  6. 2022

  7. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

    Wu, C-H. W., Lim, T. Y., Wang, C., Seltzsam, S., Zheng, B., Schierbaum, L., Mann, N., Connaughton, D. M., Nakayama, M., van der Ven, A. T., Dai, R., Kolvenbach, C. M., Kause, F., Ottlewski, I., Stajic, N., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H. M., Milosevic, D., Turudic, D., Al Saffar, M., Awad, H. S., Eid, L. A., Ramanathan, A., Senguttuvan, P., Mane, S. M., Lee, R. S., Bauer, S. B., Lu, W., Hilger, A. C., Tasic, V., Shril, S., Sanna-Cherchi, S. & Hildebrandt, F., 09.2022, In: EUR UROL OPEN SCI. 44, p. 106-112 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

    Seiffert, S., Pendziwiat, M., Bierhals, T., Goel, H., Schwarz, N., van der Ven, A., Boßelmann, C. M., Lemke, J., Syrbe, S., Willemsen, M. H., Hedrich, U. B. S., Helbig, I. & Weber, Y., 09.2022, In: EBIOMEDICINE. 83, 104234.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. 2021

  10. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes

    Kolvenbach, C. M., van der Ven, A. T., Kause, F., Shril, S., Scala, M., Connaughton, D. M., Mann, N., Nakayama, M., Dai, R., Kitzler, T. M., Schneider, R., Schierbaum, L., Schneider, S., Accogli, A., Torella, A., Piatelli, G., Nigro, V., Capra, V., Hoppe, B., Märzheuser, S., Schmiedeke, E., Rehm, H. L., Mane, S., Lifton, R. P., Dworschak, G. C., Hilger, A. C., Reutter, H. & Hildebrandt, F., 12.2021, In: AM J MED GENET A. 185, 12, p. 3784-3792 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

    van der Ven, A. T., Johannsen, J., Kortüm, F., Wagner, M., Tsiakas, K., Bierhals, T., Lessel, D., Herget, T., Kloth, K., Lisfeld, J., Scholz, T., Obi, N., Wortmann, S., Prokisch, H., Kubisch, C., Denecke, J., Santer, R. & Hempel, M., 12.2021, In: CLIN GENET. 100, 6, p. 766-770 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

    Kloth, K., Lozic, B., Tagoe, J., Hoffer, M. J. V., Van der Ven, A., Thiele, H., Altmüller, J., Kubisch, C., Au, P. Y. B., Denecke, J., Bijlsma, E. K. & Lessel, D., 10.2021, In: NEUROGENETICS. 22, 4, p. 263-269 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

    Stenton, S. L., Sheremet, N. L., Catarino, C. B., Andreeva, N. A., Assouline, Z., Barboni, P., Barel, O., Berutti, R., Bychkov, I., Caporali, L., Capristo, M., Carbonelli, M., Cascavilla, M. L., Charbel Issa, P., Freisinger, P., Gerber, S., Ghezzi, D., Graf, E., Heidler, J., Hempel, M., Heon, E., Itkis, Y. S., Javasky, E., Kaplan, J., Kopajtich, R., Kornblum, C., Kovacs-Nagy, R., Krylova, T. D., Kunz, W. S., La Morgia, C., Lamperti, C., Ludwig, C., Malacarne, P. F., Maresca, A., Mayr, J. A., Meisterknecht, J., Nevinitsyna, T. A., Palombo, F., Pode-Shakked, B., Shmelkova, M. S., Strom, T. M., Tagliavini, F., Tzadok, M., van der Ven, A. T., Vignal-Clermont, C., Wagner, M., Zakharova, E. Y., Zhorzholadze, N. V., Rozet, J-M., Carelli, V., Tsygankova, P. G., Klopstock, T., Wittig, I. & Prokisch, H., 15.03.2021, In: J CLIN INVEST. 131, 6, e138267.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

    Mann, N., Mzoughi, S., Schneider, R., Kühl, S. J., Schanze, D., Klämbt, V., Lovric, S., Mao, Y., Shi, S., Tan, W., Kühl, M., Onuchic-Whitford, A. C., Treimer, E., Kitzler, T. M., Kause, F., Schumann, S., Nakayama, M., Buerger, F., Shril, S., van der Ven, A. T., Majmundar, A. J., Holton, K. M., Kolb, A., Braun, D. A., Rao, J., Jobst-Schwan, T., Mildenberger, E., Lennert, T., Kuechler, A., Wieczorek, D., Gross, O., Ermisch-Omran, B., Werberger, A., Skalej, M., Janecke, A. R., Soliman, N. A., Mane, S. M., Lifton, R. P., Kadlec, J., Guccione, E., Schmeisser, M. J., Zenker, M. & Hildebrandt, F., 03.2021, In: J AM SOC NEPHROL. 32, 3, p. 580-596 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

    Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., Brown, K. E., Bruel, A-L., Brunet, T., Carneiro, M., Cremer, K., Day, R., Denommé-Pichon, A-S., Dyment, D. A., Engels, H., Fisher, R., Goh, E. S., Hajianpour, M. J., Haertel, L. R. M., Hauer, N., Hempel, M., Herget, T., Johannsen, J., Kraus, C., Le Guyader, G., Lesca, G., Mau-Them, F. T., McDermott, J. H., McWalter, K., Meyer, P., Õunap, K., Popp, B., Reimand, T., Riedhammer, K. M., Russo, M., Sadleir, L. G., Saenz, M., Schiff, M., Schuler, E., Syrbe, S., Van der Ven, A. T., Verloes, A., Willems, M., Zweier, C., Steindl, K., Zweier, M. & Rauch, A., 03.2021, In: GENET MED. 23, 3, p. 543-554 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

    Scholz, T., Blohm, M. E., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., Perez, A., Obi, N., Johannsen, J., Denecke, J., Santer, R., Kubisch, C., Deindl, P. & Hempel, M., 2021, In: NEONATOLOGY. 118, 4, p. 454-461 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. 2020

  18. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Connaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Blok, L. S., Vino, A., Klämbt, V., Deutsch, K., Wu, C-H. W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M., Majmundar, A. J., Buerger, F., Onuchic-Whitford, A. C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., van der Ven, A. T., Rao, J., Ityel, H., Seltzsam, S., Rieke, J. M., Chen, J., Vivante, A., Hwang, D-Y., Kohl, S., Dworschak, G. C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S. B., Baum, M. A., Brilstra, E. H., Challman, T. D., Zyskind, J., Costin, C. E., Dipple, K. M., Duijkers, F. A., Ferguson, M., Fitzpatrick, D. R., Fick, R., Glass, I. A., Hulick, P. J., Kline, A. D., Krey, I., Kumar, S., Lu, W., Marco, E. J., Wentzensen, I. M., Mefford, H. C., Platzer, K., Povolotskaya, I. S., Savatt, J. M., Shcherbakova, N. V., Senguttuvan, P., Squire, A. E., Stein, D. R., Thiffault, I., Voinova, V. Y., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Daga, A., Rodig, N. M., Terhal, P. A., van Binsbergen, E., Eid, L. A., Tasic, V., Rasouly, H. M., Lim, T. Y., Ahram, D. F., Gharavi, A. G., Reutter, H. M., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Lifton, R. P., Xu, H., Mane, S. M., Sanna-Cherchi, S., Sharrocks, A. D., Raught, B., Fisher, S. E., Bouchard, M., Khokha, M. K., Shril, S. & Hildebrandt, F., 01.10.2020, In: AM J HUM GENET. 107, 4, p. 727-742 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. 2019

  20. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations

    Mann, N., Kause, F., Henze, E. K., Gharpure, A., Shril, S., Connaughton, D. M., Nakayama, M., Klämbt, V., Majmundar, A. J., Wu, C-H. W., Kolvenbach, C. M., Dai, R., Chen, J., van der Ven, A. T., Ityel, H., Tooley, M. J., Kari, J. A., Bownass, L., El Desoky, S., De Franco, E., Shalaby, M., Tasic, V., Bauer, S. B., Lee, R. S., Beckel, J. M., Yu, W., Mane, S. M., Lifton, R. P., Reutter, H., Ellard, S., Hibbs, R. E., Kawate, T. & Hildebrandt, F., 05.12.2019, In: AM J HUM GENET. 105, 6, p. 1286-1293 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. Monogenic causes of chronic kidney disease in adults

    Connaughton, D. M., Kennedy, C., Shril, S., Mann, N., Murray, S. L., Williams, P. A., Conlon, E., Nakayama, M., van der Ven, A. T., Ityel, H., Kause, F., Kolvenbach, C. M., Dai, R., Vivante, A., Braun, D. A., Schneider, R., Kitzler, T. M., Moloney, B., Moran, C. P., Smyth, J. S., Kennedy, A., Benson, K., Stapleton, C., Denton, M., Magee, C., O'Seaghdha, C. M., Plant, W. D., Griffin, M. D., Awan, A., Sweeney, C., Mane, S. M., Lifton, R. P., Griffin, B., Leavey, S., Casserly, L., de Freitas, D. G., Holian, J., Dorman, A., Doyle, B., Lavin, P. J., Little, M. A., Conlon, P. J. & Hildebrandt, F., 04.2019, In: KIDNEY INT. 95, 4, p. 914-928 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

    Schapiro, D., Daga, A., Lawson, J. A., Majmundar, A. J., Lovric, S., Tan, W., Warejko, J. K., Fessi, I., Rao, J., Airik, M., Gee, H. Y., Schneider, R., Widmeier, E., Hermle, T., Ashraf, S., Jobst-Schwan, T., van der Ven, A. T., Nakayama, M., Shril, S., Braun, D. A. & Hildebrandt, F., 01.03.2019, In: NEPHROL DIAL TRANSPL. 34, 3, p. 474-485 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

    Mann, N., Braun, D. A., Amann, K., Tan, W., Shril, S., Connaughton, D. M., Nakayama, M., Schneider, R., Kitzler, T. M., van der Ven, A. T., Chen, J., Ityel, H., Vivante, A., Majmundar, A. J., Daga, A., Warejko, J. K., Lovric, S., Ashraf, S., Jobst-Schwan, T., Widmeier, E., Hugo, H., Mane, S. M., Spaneas, L., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Stein, D. R., Baum, M. A., Daouk, G. H., Lifton, R. P., Manzi, S., Vakili, K., Kim, H. B., Rodig, N. M. & Hildebrandt, F., 02.2019, In: J AM SOC NEPHROL. 30, 2, p. 201-215 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  24. 2018

  25. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

    van der Ven, A. T., Connaughton, D. M., Ityel, H., Mann, N., Nakayama, M., Chen, J., Vivante, A., Hwang, D-Y., Schulz, J., Braun, D. A., Schmidt, J. M., Schapiro, D., Schneider, R., Warejko, J. K., Daga, A., Majmundar, A. J., Tan, W., Jobst-Schwan, T., Hermle, T., Widmeier, E., Ashraf, S., Amar, A., Hoogstraaten, C. A., Hugo, H., Kitzler, T. M., Kause, F., Kolvenbach, C. M., Dai, R., Spaneas, L., Amann, K., Stein, D. R., Baum, M. A., Somers, M. J. G., Rodig, N. M., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Bogdanović, R., Stajić, N., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H. M., Milosevic, D., Al-Saffar, M., Awad, H. S., Eid, L. A., Selvin, A., Senguttuvan, P., Sanna-Cherchi, S., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Wilson, M. W., Mane, S. M., Lifton, R. P., Lee, R. S., Bauer, S. B., Lu, W., Reutter, H. M., Tasic, V., Shril, S. & Hildebrandt, F., 09.2018, In: J AM SOC NEPHROL. 29, 9, p. 2348-2361 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome

    Hermle, T., Schneider, R., Schapiro, D., Braun, D. A., van der Ven, A. T., Warejko, J. K., Daga, A., Widmeier, E., Nakayama, M., Jobst-Schwan, T., Majmundar, A. J., Ashraf, S., Rao, J., Finn, L. S., Tasic, V., Hernandez, J. D., Bagga, A., Jalalah, S. M., El Desoky, S., Kari, J. A., Laricchia, K. M., Lek, M., Rehm, H. L., MacArthur, D. G., Mane, S., Lifton, R. P., Shril, S. & Hildebrandt, F., 08.2018, In: J AM SOC NEPHROL. 29, 8, p. 2123-2138 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment

    Ashraf, S., Kudo, H., Rao, J., Kikuchi, A., Widmeier, E., Lawson, J. A., Tan, W., Hermle, T., Warejko, J. K., Shril, S., Airik, M., Jobst-Schwan, T., Lovric, S., Braun, D. A., Gee, H. Y., Schapiro, D., Majmundar, A. J., Sadowski, C. E., Pabst, W. L., Daga, A., van der Ven, A. T., Schmidt, J. M., Low, B. C., Gupta, A. B., Tripathi, B. K., Wong, J., Campbell, K., Metcalfe, K., Schanze, D., Niihori, T., Kaito, H., Nozu, K., Tsukaguchi, H., Tanaka, R., Hamahira, K., Kobayashi, Y., Takizawa, T., Funayama, R., Nakayama, K., Aoki, Y., Kumagai, N., Iijima, K., Fehrenbach, H., Kari, J. A., El Desoky, S., Jalalah, S., Bogdanovic, R., Stajić, N., Zappel, H., Rakhmetova, A., Wassmer, S-R., Jungraithmayr, T., Strehlau, J., Kumar, A. S., Bagga, A., Soliman, N. A., Mane, S. M., Kaufman, L., Lowy, D. R., Jairajpuri, M. A., Lifton, R. P., Pei, Y., Zenker, M., Kure, S. & Hildebrandt, F., 17.05.2018, In: NAT COMMUN. 9, 1, p. 1960

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome

    Warejko, J. K., Tan, W., Daga, A., Schapiro, D., Lawson, J. A., Shril, S., Lovric, S., Ashraf, S., Rao, J., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Schneider, R., Gee, H. Y., Schmidt, J. M., Vivante, A., van der Ven, A. T., Ityel, H., Chen, J., Sadowski, C. E., Kohl, S., Pabst, W. L., Nakayama, M., Somers, M. J. G., Rodig, N. M., Daouk, G., Baum, M., Stein, D. R., Ferguson, M. A., Traum, A. Z., Soliman, N. A., Kari, J. A., El Desoky, S., Fathy, H., Zenker, M., Bakkaloglu, S. A., Müller, D., Noyan, A., Ozaltin, F., Cadnapaphornchai, M. A., Hashmi, S., Hopcian, J., Kopp, J. B., Benador, N., Bockenhauer, D., Bogdanovic, R., Stajić, N., Chernin, G., Ettenger, R., Fehrenbach, H., Kemper, M., Munarriz, R. L., Podracka, L., Büscher, R., Serdaroglu, E., Tasic, V., Mane, S., Lifton, R. P., Braun, D. A. & Hildebrandt, F., 06.01.2018, In: Clinical journal of the American Society of Nephrology : CJASN. 13, 1, p. 53-62 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract

    van der Ven, A. T., Vivante, A. & Hildebrandt, F., 01.2018, In: J AM SOC NEPHROL. 29, 1, p. 36-50 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  30. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

    van der Ven, A. T., Kobbe, B., Kohl, S., Shril, S., Pogoda, H-M., Imhof, T., Ityel, H., Vivante, A., Chen, J., Hwang, D-Y., Connaughton, D. M., Mann, N., Widmeier, E., Taglienti, M., Schmidt, J. M., Nakayama, M., Senguttuvan, P., Kumar, S., Tasic, V., Kehinde, E. O., Mane, S. M., Lifton, R. P., Soliman, N., Lu, W., Bauer, S. B., Hammerschmidt, M., Wagener, R. & Hildebrandt, F., 2018, In: PLOS ONE. 13, 1, p. e0191224

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. 2017

  32. Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome

    Rao, J., Ashraf, S., Tan, W., van der Ven, A. T., Gee, H. Y., Braun, D. A., Fehér, K., George, S. P., Esmaeilniakooshkghazi, A., Choi, W-I., Jobst-Schwan, T., Schneider, R., Schmidt, J. M., Widmeier, E., Warejko, J. K., Hermle, T., Schapiro, D., Lovric, S., Shril, S., Daga, A., Nayir, A., Shenoy, M., Tse, Y., Bald, M., Helmchen, U., Mir, S., Berdeli, A., Kari, J. A., El Desoky, S., Soliman, N. A., Bagga, A., Mane, S., Jairajpuri, M. A., Lifton, R. P., Khurana, S., Martins, J. C. & Hildebrandt, F., 01.12.2017, In: J CLIN INVEST. 127, 12, p. 4257-4269 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases

    Vivante, A., Ityel, H., Pode-Shakked, B., Chen, J., Shril, S., van der Ven, A. T., Mann, N., Schmidt, J. M., Segel, R., Aran, A., Zeharia, A., Staretz-Chacham, O., Bar-Yosef, O., Raas-Rothschild, A., Landau, Y. E., Lifton, R. P., Anikster, Y. & Hildebrandt, F., 12.2017, In: PEDIATR NEPHROL. 32, 12, p. 2273-2282 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling

    Vivante, A., Mann, N., Yonath, H., Weiss, A-C., Getwan, M., Kaminski, M. M., Bohnenpoll, T., Teyssier, C., Chen, J., Shril, S., van der Ven, A. T., Ityel, H., Schmidt, J. M., Widmeier, E., Bauer, S. B., Sanna-Cherchi, S., Gharavi, A. G., Lu, W., Magen, D., Shukrun, R., Lifton, R. P., Tasic, V., Stanescu, H. C., Cavaillès, V., Kleta, R., Anikster, Y., Dekel, B., Kispert, A., Lienkamp, S. S. & Hildebrandt, F., 08.2017, In: J AM SOC NEPHROL. 28, 8, p. 2364-2376 13 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report

    van der Ven, A. T., Shril, S., Ityel, H., Vivante, A., Chen, J., Hwang, D-Y., Laricchia, K. M., Lek, M., Tasic, V. & Hildebrandt, F., 08.2017, In: MOL SYNDROMOL. 8, 5, p. 272-277 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

    Zhang, R., Marsch, F., Kause, F., Degenhardt, F., Schmiedeke, E., Märzheuser, S., Hoppe, B., Bachour, H., Boemers, T. M., Schäfer, M., Spychalski, N., Neser, J., Leonhardt, J., Kosch, F., Ure, B., Gómez, B., Lacher, M., Deffaa, O. J., Palta, M., Wittekindt, B., Kleine, K., Schmedding, A., Grasshoff-Derr, S., Ven, A. V. D., Heilmann-Heimbach, S., Zwink, N., Jenetzky, E., Ludwig, M. & Reutter, H., 17.07.2017, In: BIRTH DEFECTS RES. 109, 13, p. 1063-1069 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

    Vivante, A., Hwang, D-Y., Kohl, S., Chen, J., Shril, S., Schulz, J., van der Ven, A., Daouk, G., Soliman, N. A., Kumar, A. S., Senguttuvan, P., Kehinde, E. O., Tasic, V. & Hildebrandt, F., 01.2017, In: J AM SOC NEPHROL. 28, 1, p. 69-75 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Methylene Blue (Tetramethylthionine Chloride) Influences the Mobility of Adult Neural Stem Cells: A Potentially Novel Therapeutic Mechanism of a Therapeutic Approach in the Treatment of Alzheimer's Disease

    van der Ven, A. T., Pape, J. C., Hermann, D., Schloesser, R., Genius, J., Fischer, N., Mößner, R., Scherbaum, N., Wiltfang, J., Rujescu, D. & Benninghoff, J., 2017, In: J ALZHEIMERS DIS. 57, 2, p. 531-540 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. 2016

  40. Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract

    Kohl, S., Chen, J., Vivante, A., Hwang, D-Y., Shril, S., Dworschak, G. C., Van Der Ven, A., Sanna-Cherchi, S., Bauer, S. B., Lee, R. S., Soliman, N. A., Kehinde, E. O., Reutter, H. M., Tasic, V. & Hildebrandt, F., 08.2016, In: NEPHROL DIAL TRANSPL. 31, 8, p. 1280-3 4 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. 2015

  42. Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association

    Hilger, A. C., Halbritter, J., Pennimpede, T., van der Ven, A., Sarma, G., Braun, D. A., Porath, J. D., Kohl, S., Hwang, D-Y., Dworschak, G. C., Hermann, B. G., Pavlova, A., El-Maarri, O., Nöthen, M. M., Ludwig, M., Reutter, H. & Hildebrandt, F., 12.2015, In: HUM MUTAT. 36, 12, p. 1150-4 5 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. 2012

  44. The complex role of the serotonin transporter in adult neurogenesis and neuroplasticity. A critical review

    Benninghoff, J., van der Ven, A., Schloesser, R. J., Moessner, R., Möller, H. J. & Rujescu, D., 04.2012, In: WORLD J BIOL PSYCHIA. 13, 4, p. 240-7 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research