ZFIN ID: ZDB-PERS-180327-7
Hildebrandt, Friedhelm
Email: Friedhelm.Hildebrandt@childrens.harvard.edu
URL:
Affiliation: Hildebrandt Lab
Address: Boston Children's Hospital Division of Nephrology Hildebrandt Lab Enders 5 61 Binney Street-Receiving Dock Boston, Massachusetts 02115
Country: United States
Phone: 617-919-2335
Fax: 617-730-0365
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Kolvenbach, C.M., Felger, T., Schierbaum, L., Thiffault, I., Pastinen, T., Szczepańska, M., Zaniew, M., Adamczyk, P., Bayat, A., Yilmaz, Ö., Lindenberg, T.T., Thiele, H., Hildebrandt, F., Hinderhofer, K., Moog, U., Hilger, A.C., Sullivan, B., Bartik, L., Gnyś, P., Grote, P., Odermatt, B., Reutter, H.M., Dworschak, G.C. (2022) X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. Journal of Medical Genetics. 60(6):587-596
Kolvenbach, C.M., Dworschak, G.C., Frese, S., Japp, A.S., Schuster, P., Wenzlitschke, N., Yilmaz, Ö., Lopes, F.M., Pryalukhin, A., Schierbaum, L., van der Zanden, L.F.M., Kause, F., Schneider, R., Taranta-Janusz, K., Szczepańska, M., Pawlaczyk, K., Newman, W.G., Beaman, G.M., Stuart, H.M., Cervellione, R.M., Feitz, W.F.J., van Rooij, I.A.L.M., Schreuder, M.F., Steffens, M., Weber, S., Merz, W.M., Feldkötter, M., Hoppe, B., Thiele, H., Altmüller, J., Berg, C., Kristiansen, G., Ludwig, M., Reutter, H., Woolf, A.S., Hildebrandt, F., Grote, P., Zaniew, M., Odermatt, B., Hilger, A.C. (2019) Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. American journal of human genetics. 104:994-1006
Jobst-Schwan, T., Hoogstraten, C.A., Kolvenbach, C.M., Schmidt, J.M., Kolb, A., Eddy, K., Schneider, R., Ashraf, S., Widmeier, E., Majmundar, A.J., Hildebrandt, F. (2019) Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney International. 95:1079-1090
Lahrouchi, N., George, A., Ratbi, I., Schneider, R., Elalaoui, S.C., Moosa, S., Bharti, S., Sharma, R., Abu-Asab, M., Onojafe, F., Adadi, N., Lodder, E.M., Laarabi, F.Z., Lamsyah, Y., Elorch, H., Chebbar, I., Postma, A.V., Lougaris, V., Plebani, A., Altmueller, J., Kyrieleis, H., Meiner, V., McNeill, H., Bharti, K., Lyonnet, S., Wollnik, B., Henrion-Caude, A., Berraho, A., Hildebrandt, F., Bezzina, C.R., Brooks, B.P., Sefiani, A. (2019) Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nature communications. 10:1180
Choi, Y.J., Halbritter, J., Braun, D.A., Schueler, M., Schapiro, D., Rim, J.H., Nandadasa, S., Choi, W.I., Widmeier, E., Shril, S., Körber, F., Sethi, S.K., Lifton, R.P., Beck, B.B., Apte, S.S., Gee, H.Y., Hildebrandt, F. (2019) Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy. American journal of human genetics. 104:45-54
Braun, D.A., Lovric, S., Schapiro, D., Schneider, R., Marquez, J., Asif, M., Hussain, M.S., Daga, A., Widmeier, E., Rao, J., Ashraf, S., Tan, W., Lusk, C.P., Kolb, A., Jobst-Schwan, T., Schmidt, J.M., Hoogstraten, C.A., Eddy, K., Kitzler, T.M., Shril, S., Moawia, A., Schrage, K., Khayyat, A.I.A., Lawson, J.A., Gee, H.Y., Warejko, J.K., Hermle, T., Majmundar, A.J., Hugo, H., Budde, B., Motameny, S., Altmüller, J., Noegel, A.A., Fathy, H.M., Gale, D.P., Waseem, S.S., Khan, A., Kerecuk, L., Hashmi, S., Mohebbi, N., Ettenger, R., Serdaroğlu, E., Alhasan, K.A., Hashem, M., Goncalves, S., Ariceta, G., Ubetagoyena, M., Antonin, W., Baig, S.M., Alkuraya, F.S., Shen, Q., Xu, H., Antignac, C., Lifton, R.P., Mane, S., Nürnberg, P., Khokha, M.K., Hildebrandt, F. (2018) Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. The Journal of Clinical Investigation. 128(10):4313-4328
Hoff, S., Epting, D., Falk, N., Schroda, S., Braun, D.A., Halbritter, J., Hildebrandt, F., Kramer-Zucker, A., Bergmann, C., Walz, G., Lienkamp, S.S. (2018) The nucleoside diphosphate kinase NME3 associates with nephronophthisis proteins, and is required for ciliary function during renal development. The Journal of biological chemistry. 293(39):15243-15255
Kolb, A., Hildebrandt, F., Lawrence, C. (2018) Effects of Diet and Social Housing on Reproductive Success in Adult Zebrafish, Danio rerio. Zebrafish. 15(5):445-453
Rinschen, M.M., Gödel, M., Grahammer, F., Zschiedrich, S., Helmstädter, M., Kretz, O., Zarei, M., Braun, D.A., Dittrich, S., Pahmeyer, C., Schroder, P., Teetzen, C., Gee, H., Daouk, G., Pohl, M., Kuhn, E., Schermer, B., Küttner, V., Boerries, M., Busch, H., Schiffer, M., Bergmann, C., Krüger, M., Hildebrandt, F., Dengjel, J., Benzing, T., Huber, T.B. (2018) A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Reports. 23:2495-2508
Jobst-Schwan, T., Schmidt, J.M., Schneider, R., Hoogstraten, C.A., Ullmann, J.F.P., Schapiro, D., Majmundar, A.J., Kolb, A., Eddy, K., Shril, S., Braun, D.A., Poduri, A., Hildebrandt, F. (2018) Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PLoS One. 13:e0191503
Sanna-Cherchi, S., Khan, K., Westland, R., Krithivasan, P., Fievet, L., Rasouly, H.M., Ionita-Laza, I., Capone, V.P., Fasel, D.A., Kiryluk, K., Kamalakaran, S., Bodria, M., Otto, E.A., Sampson, M.G., Gillies, C.E., Vega-Warner, V., Vukojevic, K., Pediaditakis, I., Makar, G.S., Mitrotti, A., Verbitsky, M., Martino, J., Liu, Q., Na, Y.J., Goj, V., Ardissino, G., Gigante, M., Gesualdo, L., Janezcko, M., Zaniew, M., Mendelsohn, C.L., Shril, S., Hildebrandt, F., van Wijk, J.A.E., Arapovic, A., Saraga, M., Allegri, L., Izzi, C., Scolari, F., Tasic, V., Ghiggeri, G.M., Latos-Bielenska, A., Kiryluk, A.M., Mane, S., Goldstein, D.B., Lifton, R.P., Katsanis, N., Davis, E.E., Gharavi, A.G. (2017) Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. American journal of human genetics. 101:789-802
Braun, D.A., Rao, J., Mollet, G., Schapiro, D., Daugeron, M.C., Tan, W., Gribouval, O., Boyer, O., Revy, P., Jobst-Schwan, T., Schmidt, J.M., Lawson, J.A., Schanze, D., Ashraf, S., Ullmann, J.F.P., Hoogstraten, C.A., Boddaert, N., Collinet, B., Martin, G., Liger, D., Lovric, S., Furlano, M., Guerrera, I.C., Sanchez-Ferras, O., Hu, J.F., Boschat, A.C., Sanquer, S., Menten, B., Vergult, S., De Rocker, N., Airik, M., Hermle, T., Shril, S., Widmeier, E., Gee, H.Y., Choi, W.I., Sadowski, C.E., Pabst, W.L., Warejko, J.K., Daga, A., Basta, T., Matejas, V., Scharmann, K., Kienast, S.D., Behnam, B., Beeson, B., Begtrup, A., Bruce, M., Ch'ng, G.S., Lin, S.P., Chang, J.H., Chen, C.H., Cho, M.T., Gaffney, P.M., Gipson, P.E., Hsu, C.H., Kari, J.A., Ke, Y.Y., Kiraly-Borri, C., Lai, W.M., Lemyre, E., Littlejohn, R.O., Masri, A., Moghtaderi, M., Nakamura, K., Ozaltin, F., Praet, M., Prasad, C., Prytula, A., Roeder, E.R., Rump, P., Schnur, R.E., Shiihara, T., Sinha, M.D., Soliman, N.A., Soulami, K., Sweetser, D.A., Tsai, W.H., Tsai, J.D., Topaloglu, R., Vester, U., Viskochil, D.H., Vatanavicharn, N., Waxler, J.L., Wierenga, K.J., Wolf, M.T.F., Wong, S.N., Leidel, S.A., Truglio, G., Dedon, P.C., Poduri, A., Mane, S., Lifton, R.P., Bouchard, M., Kannu, P., Chitayat, D., Magen, D., Callewaert, B., van Tilbeurgh, H., Zenker, M., Antignac, C., Hildebrandt, F. (2017) Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature Genetics. 49(10):1529-1538
Lee, J.H., Silhavy, J.L., Lee, J.E., Al-Gazali, L., Thomas, S., Davis, E.E., Bielas, S.L., Hill, K.J., Iannicelli, M., Brancati, F., Gabriel, S.B., Russ, C., Logan, C.V., Sharif, S.M., Bennett, C.P., Abe, M., Hildebrandt, F., Diplas, B.H., Attié-Bitach, T., Katsanis, N., Rajab, A., Koul, R., Sztriha, L., Waters, E.R., Ferro-Novick, S., Woods, C.G., Johnson, C.A., Valente, E.M., Zaki, M.S., Gleeson, J.G. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335:966-9

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