Journal of the American Society of Nephrology / Jun 01, 2015

Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., Somers, M. J., Tan, W., Shril, S., Fessi, I., Lifton, R. P., Bockenhauer, D., El-Desoky, S., Kari, J. A., Zenker, M., … Hildebrandt, F. (2015). A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome. Journal of the American Society of Nephrology, 26(6), 1279–1289. https://doi.org/10.1681/asn.2014050489

Clinical Journal of the American Society of Nephrology / Nov 10, 2017

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., … Hildebrandt, F. (2017). Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clinical Journal of the American Society of Nephrology, 13(1), 53–62. https://doi.org/10.2215/cjn.04120417

Kidney International / Apr 01, 2019

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., … Hildebrandt, F. (2019). Monogenic causes of chronic kidney disease in adults. Kidney International, 95(4), 914–928. https://doi.org/10.1016/j.kint.2018.10.031

Journal of Clinical Investigation / Feb 06, 2017

Lovric, S., Goncalves, S., Gee, H. Y., Oskouian, B., Srinivas, H., Choi, W.-I., Shril, S., Ashraf, S., Tan, W., Rao, J., Airik, M., Schapiro, D., Braun, D. A., Sadowski, C. E., Widmeier, E., Jobst-Schwan, T., Schmidt, J. M., Girik, V., Capitani, G., … Hildebrandt, F. (2017). Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. Journal of Clinical Investigation, 127(3), 912–928. https://doi.org/10.1172/jci89626

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature / Mar 10, 2018

Campellone, K. (2018). Faculty Opinions recommendation of Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature. https://doi.org/10.3410/f.728639673.793543621

Congenital Anomalies of the Kidney and Urinary Tract / Jan 01, 2016

Vivante, A., & Hildebrandt, F. (2016). Genetics of Congenital Anomalies of the Kidneys and Urinary Tract. Congenital Anomalies of the Kidney and Urinary Tract, 303–322. https://doi.org/10.1007/978-3-319-29219-9_15

Nature Genetics / Feb 15, 2016

Braun, D. A., Sadowski, C. E., Kohl, S., Lovric, S., Astrinidis, S. A., Pabst, W. L., Gee, H. Y., Ashraf, S., Lawson, J. A., Shril, S., Airik, M., Tan, W., Schapiro, D., Rao, J., Choi, W.-I., Hermle, T., Kemper, M. J., Pohl, M., Ozaltin, F., … Hildebrandt, F. (2016). Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nature Genetics, 48(4), 457–465. https://doi.org/10.1038/ng.3512

Journal of the American Society of Nephrology / Oct 27, 2017

van der Ven, A. T., Vivante, A., & Hildebrandt, F. (2017). Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract. Journal of the American Society of Nephrology, 29(1), 36–50. https://doi.org/10.1681/asn.2017050561

Kidney International / Jan 01, 2018

Daga, A., Majmundar, A. J., Braun, D. A., Gee, H. Y., Lawson, J. A., Shril, S., Jobst-Schwan, T., Vivante, A., Schapiro, D., Tan, W., Warejko, J. K., Widmeier, E., Nelson, C. P., Fathy, H. M., Gucev, Z., Soliman, N. A., Hashmi, S., Halbritter, J., Halty, M., … Hildebrandt, F. (2018). Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney International, 93(1), 204–213. https://doi.org/10.1016/j.kint.2017.06.025

Clinical Journal of the American Society of Nephrology / Apr 01, 2016

Braun, D. A., Lawson, J. A., Gee, H. Y., Halbritter, J., Shril, S., Tan, W., Stein, D., Wassner, A. J., Ferguson, M. A., Gucev, Z., Fisher, B., Spaneas, L., Varner, J., Sayer, J. A., Milosevic, D., Baum, M., Tasic, V., & Hildebrandt, F. (2016). Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. Clinical Journal of the American Society of Nephrology, 11(4), 664–672. https://doi.org/10.2215/cjn.07540715

Journal of the American Society of Nephrology / Jan 17, 2019

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., … Hildebrandt, F. (2019). Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Journal of the American Society of Nephrology, 30(2), 201–215. https://doi.org/10.1681/asn.2018060575

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature / Oct 21, 2019

Saleem, M. (2019). Faculty Opinions recommendation of Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature. https://doi.org/10.3410/f.733256439.793566369

Journal of the American Society of Nephrology / May 05, 2016

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. (2016). Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. Journal of the American Society of Nephrology, 28(1), 69–75. https://doi.org/10.1681/asn.2015080962

Journal of Clinical Investigation / Sep 04, 2018

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., … Hildebrandt, F. (2018). Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Journal of Clinical Investigation, 128(10), 4313–4328. https://doi.org/10.1172/jci98688

Kidney International / Feb 01, 2016

Braun, D. A., Schueler, M., Halbritter, J., Gee, H. Y., Porath, J. D., Lawson, J. A., Airik, R., Shril, S., Allen, S. J., Stein, D., Al Kindy, A., Beck, B. B., Cengiz, N., Moorani, K. N., Ozaltin, F., Hashmi, S., Sayer, J. A., Bockenhauer, D., Soliman, N. A., … Hildebrandt, F. (2016). Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney International, 89(2), 468–475. https://doi.org/10.1038/ki.2015.317

The American Journal of Human Genetics / Aug 01, 2015

Vivante, A., Kleppa, M.-J., Schulz, J., Kohl, S., Sharma, A., Chen, J., Shril, S., Hwang, D.-Y., Weiss, A.-C., Kaminski, M. M., Shukrun, R., Kemper, M. J., Lehnhardt, A., Beetz, R., Sanna-Cherchi, S., Verbitsky, M., Gharavi, A. G., Stuart, H. M., Feather, S. A., … Hildebrandt, F. (2015). Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. The American Journal of Human Genetics, 97(2), 291–301. https://doi.org/10.1016/j.ajhg.2015.07.001

The American Journal of Human Genetics / Nov 01, 2017

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., … Gharavi, A. G. (2017). Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. The American Journal of Human Genetics, 101(5), 789–802. https://doi.org/10.1016/j.ajhg.2017.09.018

American Journal of Medical Genetics Part A / Aug 06, 2018

Braun, D. A., Shril, S., Sinha, A., Schneider, R., Tan, W., Ashraf, S., Hermle, T., Jobst‐Schwan, T., Widmeier, E., Majmundar, A. J., Daga, A., Warejko, J. K., Nakayama, M., Schapiro, D., Chen, J., Airik, M., Rao, J., Schmidt, J. M., Hoogstraten, C. A., … Hildebrandt, F. (2018). Mutations in WDR4 as a new cause of Galloway–Mowat syndrome. American Journal of Medical Genetics Part A, 176(11), 2460–2465. Portico. https://doi.org/10.1002/ajmg.a.40489

The American Journal of Human Genetics / Jun 01, 2016

Gee, H. Y., Jun, I., Braun, D. A., Lawson, J. A., Halbritter, J., Shril, S., Nelson, C. P., Tan, W., Stein, D., Wassner, A. J., Ferguson, M. A., Gucev, Z., Sayer, J. A., Milosevic, D., Baum, M., Tasic, V., Lee, M. G., & Hildebrandt, F. (2016). Mutations in SLC26A1 Cause Nephrolithiasis. The American Journal of Human Genetics, 98(6), 1228–1234. https://doi.org/10.1016/j.ajhg.2016.03.026

Journal of the American Society of Nephrology / Jun 29, 2018

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., … Hildebrandt, F. (2018). GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal of the American Society of Nephrology, 29(8), 2123–2138. https://doi.org/10.1681/asn.2017121312

Kidney International / Mar 01, 2020

Jobst-Schwan, T., Klämbt, V., Tarsio, M., Heneghan, J. F., Majmundar, A. J., Shril, S., Buerger, F., Ottlewski, I., Shmukler, B. E., Topaloglu, R., Hashmi, S., Hafeez, F., Emma, F., Greco, M., Laube, G. F., Fathy, H. M., Pohl, M., Gellermann, J., Milosevic, D., … Hildebrandt, F. (2020). Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney International, 97(3), 567–579. https://doi.org/10.1016/j.kint.2019.09.026

Journal of the American Society of Nephrology / Apr 05, 2017

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., … Hildebrandt, F. (2017). A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. Journal of the American Society of Nephrology, 28(8), 2364–2376. https://doi.org/10.1681/asn.2016060694

Journal of Clinical Investigation / Oct 23, 2017

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., … Hildebrandt, F. (2017). Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome. Journal of Clinical Investigation, 127(12), 4257–4269. https://doi.org/10.1172/jci94138

Human Genetics / Feb 18, 2019

Amar, A., Majmundar, A. J., Ullah, I., Afzal, A., Braun, D. A., Shril, S., Daga, A., Jobst-Schwan, T., Ahmad, M., Sayer, J. A., Gee, H. Y., Halbritter, J., Knöpfel, T., Hernando, N., Werner, A., Wagner, C., Khaliq, S., & Hildebrandt, F. (2019). Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Human Genetics, 138(3), 211–219. https://doi.org/10.1007/s00439-019-01978-x

Pediatric Nephrology / Apr 17, 2019

Vivante, A., Chacham, O. S., Shril, S., Schreiber, R., Mane, S. M., Pode-Shakked, B., Soliman, N. A., Koneth, I., Schiffer, M., Anikster, Y., & Hildebrandt, F. (2019). Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children. Pediatric Nephrology, 34(9), 1607–1613. https://doi.org/10.1007/s00467-019-04256-0

Pediatric Nephrology / Sep 18, 2017

Tan, W., Lovric, S., Ashraf, S., Rao, J., Schapiro, D., Airik, M., Shril, S., Gee, H. Y., Baum, M., Daouk, G., Ferguson, M. A., Rodig, N., Somers, M. J. G., Stein, D. R., Vivante, A., Warejko, J. K., Widmeier, E., & Hildebrandt, F. (2017). Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center. Pediatric Nephrology, 33(2), 305–314. https://doi.org/10.1007/s00467-017-3801-6

The American Journal of Human Genetics / Jan 01, 2019

Choi, Y. J., Halbritter, J., Braun, D. A., Schueler, M., Schapiro, D., Rim, J. H., Nandadasa, S., Choi, W., 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. The American Journal of Human Genetics, 104(1), 45–54. https://doi.org/10.1016/j.ajhg.2018.11.003

Pediatric Nephrology / Aug 05, 2017

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. (2017). Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatric Nephrology, 32(12), 2273–2282. https://doi.org/10.1007/s00467-017-3755-8

Kidney International / Oct 01, 2019

Solanki, A. K., Widmeier, E., Arif, E., Sharma, S., Daga, A., Srivastava, P., Kwon, S.-H., Hugo, H., Nakayama, M., Mann, N., Majmundar, A. J., Tan, W., Gee, H. Y., Sadowski, C. E., Rinat, C., Becker-Cohen, R., Bergmann, C., Rosen, S., Somers, M., … Nihalani, D. (2019). Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney International, 96(4), 883–889. https://doi.org/10.1016/j.kint.2019.06.016

Nephrology Dialysis Transplantation / Mar 09, 2018

Braun, D. A., Warejko, J. K., Ashraf, S., Tan, W., Daga, A., Schneider, R., Hermle, T., Jobst-Schwan, T., Widmeier, E., Majmundar, A. J., Nakayama, M., Schapiro, D., Rao, J., Schmidt, J. M., Hoogstraten, C. A., Hugo, H., Bakkaloglu, S. A., Kari, J. A., El Desoky, S., … Hildebrandt, F. (2018). Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology Dialysis Transplantation, 34(3), 485–493. https://doi.org/10.1093/ndt/gfy028

The American Journal of Human Genetics / Oct 01, 2020

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., … Hildebrandt, F. (2020). Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. The American Journal of Human Genetics, 107(4), 727–742. https://doi.org/10.1016/j.ajhg.2020.08.013

Science Advances / Jan 01, 2021

Majmundar, A. J., Buerger, F., Forbes, T. A., Klämbt, V., Schneider, R., Deutsch, K., Kitzler, T. M., Howden, S. E., Scurr, M., Tan, K. S., Krzeminski, M., Widmeier, E., Braun, D. A., Lai, E., Ullah, I., Amar, A., Kolb, A., Eddy, K., Chen, C. H., … Hildebrandt, F. (2021). Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Science Advances, 7(1). https://doi.org/10.1126/sciadv.abe1386

Proceedings of the National Academy of Sciences / Dec 26, 2019

Ramsbottom, S. A., Thelwall, P. E., Wood, K. M., Clowry, G. J., Devlin, L. A., Silbermann, F., Spiewak, H. L., Shril, S., Molinari, E., Hildebrandt, F., Gunay-Aygun, M., Saunier, S., Cordell, H. J., Sayer, J. A., & Miles, C. G. (2019). Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome. Proceedings of the National Academy of Sciences, 117(2), 1113–1118. https://doi.org/10.1073/pnas.1912602117

The American Journal of Human Genetics / Dec 01, 2019

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., … Hildebrandt, F. (2019). CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. The American Journal of Human Genetics, 105(6), 1286–1293. https://doi.org/10.1016/j.ajhg.2019.10.004

Hypertension / Apr 01, 2018

Warejko, J. K., Schueler, M., Vivante, A., Tan, W., Daga, A., Lawson, J. A., Braun, D. A., Shril, S., Amann, K., Somers, M. J. G., Rodig, N. M., Baum, M. A., Daouk, G., Traum, A. Z., Kim, H. B., Vakili, K., Porras, D., Lock, J., Rivkin, M. J., … Hildebrandt, F. (2018). Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome. Hypertension, 71(4), 691–699. https://doi.org/10.1161/hypertensionaha.117.10296

PLOS ONE / Jan 18, 2018

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(1), e0191503. https://doi.org/10.1371/journal.pone.0191503

Nephrology Dialysis Transplantation / Mar 21, 2018

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., … Hildebrandt, F. (2018). Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrology Dialysis Transplantation, 34(3), 474–485. https://doi.org/10.1093/ndt/gfy050

Nephrology Dialysis Transplantation / Jan 29, 2016

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. (2016). Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. Nephrology Dialysis Transplantation, 31(8), 1280–1283. https://doi.org/10.1093/ndt/gfv447

Human Genetics / Jun 22, 2019

Kitzler, T. M., Schneider, R., Kohl, S., Kolvenbach, C. M., Connaughton, D. M., Dai, R., Mann, N., Nakayama, M., Majmundar, A. J., Wu, C.-H. W., Kari, J. A., El Desoky, S. M., Senguttuvan, P., Bogdanovic, R., Stajic, N., Valivullah, Z., Lek, M., Mane, S., Lifton, R. P., … Hildebrandt, F. (2019). COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Human Genetics, 138(10), 1105–1115. https://doi.org/10.1007/s00439-019-02042-4

The American Journal of Human Genetics / Dec 01, 2020

Schneider, R., Deutsch, K., Hoeprich, G. J., Marquez, J., Hermle, T., Braun, D. A., Seltzsam, S., Kitzler, T. M., Mao, Y., Buerger, F., Majmundar, A. J., Onuchic-Whitford, A. C., Kolvenbach, C. M., Schierbaum, L., Schneider, S., Halawi, A. A., Nakayama, M., Mann, N., Connaughton, D. M., … Hildebrandt, F. (2020). DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. The American Journal of Human Genetics, 107(6), 1113–1128. https://doi.org/10.1016/j.ajhg.2020.11.008

Genetics in Medicine / Oct 01, 2020

Wu, C.-H. W., Mann, N., Nakayama, M., Connaughton, D. M., Dai, R., Kolvenbach, C. M., Kause, F., Ottlewski, I., Wang, C., Klämbt, V., Seltzsam, S., Lai, E. W., Selvin, A., Senguttuva, P., Bodamer, O., Stein, D. R., El Desoky, S., Kari, J. A., Tasic, V., … Hildebrandt, F. (2020). Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genetics in Medicine, 22(10), 1673–1681. https://doi.org/10.1038/s41436-020-0844-z

BMC Medical Genetics / Mar 29, 2019

Pode-Shakked, B., Vivante, A., Barel, O., Padeh, S., Marek-Yagel, D., Veber, A., Abudi, S., Eliyahu, A., Tirosh, I., Shpilman, S., Shril, S., Hildebrandt, F., Shohat, M., & Anikster, Y. (2019). Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature. BMC Medical Genetics, 20(1). https://doi.org/10.1186/s12881-019-0787-x

Journal of the American Society of Nephrology / Feb 17, 2021

Verbitsky, M., Krithivasan, P., Batourina, E., Khan, A., Graham, S. E., Marasà, M., Kim, H., Lim, T. Y., Weng, P. L., Sánchez-Rodríguez, E., Mitrotti, A., Ahram, D. F., Zanoni, F., Fasel, D. A., Westland, R., Sampson, M. G., Zhang, J. Y., Bodria, M., Kil, B. H., … Gharavi, A. G. (2021). Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. Journal of the American Society of Nephrology, 32(4), 805–820. https://doi.org/10.1681/asn.2020050681

Journal of the American Society of Nephrology / Feb 16, 2021

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., … Hildebrandt, F. (2021). Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. Journal of the American Society of Nephrology, 32(3), 580–596. https://doi.org/10.1681/asn.2020040490

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature / Feb 03, 2021

Kato, M. (2021). Faculty Opinions recommendation of De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature. https://doi.org/10.3410/f.739448408.793582554

Aug 05, 2021

Saitoh, S. (2021). Review of: “A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.” https://doi.org/10.32388/pq2khn

Molecular Syndromology / Jan 01, 2017

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. (2017). Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report. Molecular Syndromology, 8(5), 272–277. Portico. https://doi.org/10.1159/000477750

Genetics in Medicine / Feb 01, 2022

Seltzsam, S., Wang, C., Zheng, B., Mann, N., Connaughton, D. M., Wu, C.-H. W., Schneider, S., Schierbaum, L., Kause, F., Kolvenbach, C. M., Nakayama, M., Dai, R., Ottlewski, I., Schneider, R., Deutsch, K., Buerger, F., Klämbt, V., Mao, Y., Onuchic-Whitford, A. C., … Hildebrandt, F. (2022). Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genetics in Medicine, 24(2), 307–318. https://doi.org/10.1016/j.gim.2021.09.010

Human Mutation / Jul 26, 2021

Olinger, E., Alawi, I. A., Al Riyami, M. S., Salmi, I. A., Molinari, E., Faqeih, E. A., Al‐Hamed, M. H., Barroso‐Gil, M., Powell, L., Al‐Hussaini, A. A., Rahim, K. A., Almontashiri, N. A. M., Miles, C., Shril, S., Hildebrandt, F., Consortium, G. E. R., Wilson, I. J., & Sayer, J. A. (2021). A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families. Human Mutation, 42(10), 1221–1228. Portico. https://doi.org/10.1002/humu.24251

PLOS ONE / Jan 19, 2018

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., … Hildebrandt, F. (2018). A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLOS ONE, 13(1), e0191224. https://doi.org/10.1371/journal.pone.0191224

Kidney International / May 01, 2022

Münch, J., Engesser, M., Schönauer, R., Hamm, J. A., Hartig, C., Hantmann, E., Akay, G., Pehlivan, D., Mitani, T., Coban Akdemir, Z., Tüysüz, B., Shirakawa, T., Dateki, S., Claus, L. R., van Eerde, A. M., Smol, T., Devisme, L., Franquet, H., Attié-Bitach, T., … Halbritter, J. (2022). Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract. Kidney International, 101(5), 1039–1053. https://doi.org/10.1016/j.kint.2022.01.028

Scientific Reports / Sep 14, 2021

Yang, C., Harafuji, N., O’Connor, A. K., Kesterson, R. A., Watts, J. A., Majmundar, A. J., Braun, D. A., Lek, M., Laricchia, K. M., Fathy, H. M., Mane, S., Shril, S., Hildebrandt, F., & Guay-Woodford, L. M. (2021). Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-97046-4

Nephrology Dialysis Transplantation / Sep 02, 2021

Zheng, B., Seltzsam, S., Wang, C., Schierbaum, L., Schneider, S., Wu, C.-H. W., Dai, R., Connaughton, D. M., Nakayama, M., Mann, N., Stajic, N., Mane, S., Bauer, S. B., Tasic, V., Nam, H. J., Shril, S., & Hildebrandt, F. (2021). Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Nephrology Dialysis Transplantation, 37(10), 1833–1843. https://doi.org/10.1093/ndt/gfab253

American Journal of Medical Genetics Part A / Aug 02, 2021

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., … Hildebrandt, F. (2021). Exome survey of individuals affected by <scp>VATER</scp>/<scp>VACTERL</scp> with renal phenotypes identifies phenocopies and novel candidate genes. American Journal of Medical Genetics Part A, 185(12), 3784–3792. Portico. https://doi.org/10.1002/ajmg.a.62447

Kidney International Reports / Feb 01, 2021

Mao, Y., Schneider, R., van der Ven, P. F. M., Assent, M., Lohanadan, K., Klämbt, V., Buerger, F., Kitzler, T. M., Deutsch, K., Nakayama, M., Majmundar, A. J., Mann, N., Hermle, T., Onuchic-Whitford, A. C., Zhou, W., Margam, N. N., Duncan, R., Marquez, J., Khokha, M., … Hildebrandt, F. (2021). Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney International Reports, 6(2), 472–483. https://doi.org/10.1016/j.ekir.2020.10.040

American Journal of Medical Genetics Part A / Jun 19, 2021

Lemire, G., Zheng, B., Ediae, G. U., Zou, R., Bhola, P. T., Chisholm, C., de Nanassy, J., Lo, B., Wang, C., Shril, S., El Desoky, S., Shalaby, M., Kari, J. A., Wang, X., Kernohan, K. D., Boycott, K. M., Hildebrandt, F., & Sawyer, S. L. (2021). Homozygous <scp>WNT9B</scp> variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. American Journal of Medical Genetics Part A, 185(10), 3005–3011. Portico. https://doi.org/10.1002/ajmg.a.62398

Kidney International / Oct 01, 2020

Schönauer, R., Jin, W., Ertel, A., Nemitz-Kliemchen, M., Panitz, N., Hantmann, E., Seidel, A., Braun, D. A., Shril, S., Hansen, M., Shahzad, K., Sandford, R., Saunier, S., Benmerah, A., Bergmann, C., Hildebrandt, F., & Halbritter, J. (2020). Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment. Kidney International, 98(4), 958–969. https://doi.org/10.1016/j.kint.2020.05.027

Nature Genetics / Feb 27, 2019

Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., … Sanna-Cherchi, S. (2019). Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature Genetics, 51(4), 764–764. https://doi.org/10.1038/s41588-019-0376-0

Kidney International / Sep 01, 2023

Boyer, O., & Dorval, G. (2023). Multipopulation genome-wide association meta-analysis in pediatric steroid-sensitive nephrotic syndrome. Kidney International. https://doi.org/10.1016/j.kint.2023.08.022

Biochemical Journal / Jan 14, 2022

Lüdtke, T. H.-W., Kleppa, M.-J., Rivera-Reyes, R., Qasrawi, F., Connaughton, D. M., Shril, S., Hildebrandt, F., & Kispert, A. (2022). Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. Biochemical Journal, 479(1), 91–109. https://doi.org/10.1042/bcj20210642

American Journal of Medical Genetics Part A / Sep 15, 2021

Zheng, B., Wang, C., Seltzsam, S., Schneider, S., Schierbaum, L., Wu, W., Dai, R., Connaughton, D. M., Nakayama, M., Mann, N., Bauer, S. B., Awad, H. S., Eid, L. A., Tasic, V., Shril, S., & Hildebrandt, F. (2021). A truncating <scp>NRIP1</scp> variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. American Journal of Medical Genetics Part A, 188(1), 310–313. Portico. https://doi.org/10.1002/ajmg.a.62502

Journal of the American Society of Nephrology / Jul 01, 2021

Lane, B. M., Murray, S., Benson, K., Bierzynska, A., Chryst-Stangl, M., Wang, L., Wu, G., Cavalleri, G., Doyle, B., Fennelly, N., Dorman, A., Conlon, S., Vega-Warner, V., Fermin, D., Vijayan, P., Qureshi, M. A., Shril, S., Barua, M., Hildebrandt, F., … Gbadegesin, R. (2021). A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS. Journal of the American Society of Nephrology, 32(7), 1682–1695. https://doi.org/10.1681/asn.2020081234

European Urology Open Science / Oct 01, 2022

Wu, C.-H. W., Lim, T. Y., Wang, C., Seltzsam, S., Zheng, B., Schierbaum, L., Schneider, S., 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., … Hildebrandt, F. (2022). Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. European Urology Open Science, 44, 106–112. https://doi.org/10.1016/j.euros.2022.08.004

American Journal of Medical Genetics Part A / Jan 18, 2022

Wang, C., Seltzsam, S., Zheng, B., Wu, C. W., Nicolas‐Frank, C., Yousef, K., Au, K. S., Mann, N., Pantel, D., Schneider, S., Schierbaum, L., Kitzler, T. M., Connaughton, D. M., Mao, Y., Dai, R., Nakayama, M., Kari, J. A., El Desoky, S., Shalaby, M., … Hildebrandt, F. (2022). Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. American Journal of Medical Genetics Part A, 188(5), 1355–1367. Portico. https://doi.org/10.1002/ajmg.a.62644

Kidney International Reports / Feb 01, 2021

Klämbt, V., Mao, Y., Schneider, R., Buerger, F., Shamseldin, H., Onuchic-Whitford, A. C., Deutsch, K., Kitzler, T. M., Nakayama, M., Majmundar, A. J., Mann, N., Hugo, H., Widmeier, E., Tan, W., Rehm, H. L., Mane, S., Lifton, R. P., Alkuraya, F. S., Shril, S., & Hildebrandt, F. (2021). Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney International Reports, 6(2), 460–471. https://doi.org/10.1016/j.ekir.2020.11.013

Nature Reviews Nephrology / Jul 31, 2023

Kolvenbach, C. M., Shril, S., & Hildebrandt, F. (2023). The genetics and pathogenesis of CAKUT. Nature Reviews Nephrology, 19(11), 709–720. https://doi.org/10.1038/s41581-023-00742-9

Journal of the American Society of Nephrology / Feb 01, 2023

Klämbt, V., Buerger, F., Wang, C., Naert, T., Richter, K., Nauth, T., Weiss, A.-C., Sieckmann, T., Lai, E., Connaughton, D. M., Seltzsam, S., Mann, N., Majmundar, A. J., Wu, C.-H. W., Onuchic-Whitford, A. C., Shril, S., Schneider, S., Schierbaum, L., Dai, R., … Hildebrandt, F. (2023). Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Journal of the American Society of Nephrology, 34(2), 273–290. https://doi.org/10.1681/asn.2022010050

BMC Medical Genomics / Nov 12, 2021

Ullah, I., Ottlewski, I., Shehzad, W., Riaz, A., Ijaz, S., Tufail, A., Ammara, H., Mane, S., Shril, S., Hildebrandt, F., Zahoor, M. Y., & Majmundar, A. J. (2021). Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC Medical Genomics, 14(1). https://doi.org/10.1186/s12920-021-01116-5

Nephrology Dialysis Transplantation / Oct 23, 2020

Klämbt, V., Werth, M., Onuchic-Whitford, A. C., Getwan, M., Kitzler, T. M., Buerger, F., Mao, Y., Deutsch, K., Mann, N., Majmundar, A. J., Kaminski, M. M., Shen, T., Schmidt-Ott, K. M., Shalaby, M., El Desoky, S., Kari, J. A., Shril, S., Lienkamp, S. S., Barasch, J., & Hildebrandt, F. (2020). Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrology Dialysis Transplantation, 36(2), 237–246. https://doi.org/10.1093/ndt/gfaa215

Feb 19, 2020

Yang, C., O’Connor, A. K., Kesterson, R. A., Watts, J. A., Majmundar, A. J., Braun, D. A., Lek, M., Laricchia, K. M., Fathy, H. M., Shril, S., Hildebrandt, F., & Guay-Woodford, L. M. (2020). Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with alteredMycexpression. https://doi.org/10.1101/2020.02.18.946285

Genes & Diseases / Sep 01, 2023

Deutsch, K., Klämbt, V., Kitzler, T. M., Jobst-Schwan, T., Schneider, R., Buerger, F., Seltzsam, S., El Desoky, S., Kari, J. A., Hafeez, F., Szczepańska, M., Eid, L. A., Awad, H. S., Al-Saffar, M., Soliman, N. A., Tasic, V., Nicolas-Frank, C., Yousef, K., Schierbaum, L. M., … Hildebrandt, F. (2023). Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions. Genes &amp; Diseases, 101111. https://doi.org/10.1016/j.gendis.2023.101111

Pediatric Nephrology / Sep 05, 2023

Pantel, D., Mertens, N. D., Schneider, R., Hölzel, S., Kari, J. A., Desoky, S. E., Shalaby, M. A., Lim, T. Y., Sanna-Cherchi, S., Shril, S., & Hildebrandt, F. (2023). Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families. Pediatric Nephrology. https://doi.org/10.1007/s00467-023-06134-2

Nephron / Jan 01, 2023

Schierbaum, L. M., Schneider, S., Buerger, F., Halawi, A. A., Seltzsam, S., Wang, C., Zheng, B., Wu, C.-H. W., Dai, R., Connaughton, D. M., Salmanullah, D., Nakayama, M., Mann, N., Shril, S., & Hildebrandt, F. (2023). Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney. Nephron, 147(11), 685–692. Portico. https://doi.org/10.1159/000531770

Acta Paediatrica / Mar 06, 2023

Elshafey, S. A., Thabet, M. A. E. H., Abo Elwafa, R. A. H., Schneider, R., Shril, S., Buerger, F., Hildebrandt, F., & Fathy, H. M. (2023). Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life. Acta Paediatrica, 112(6), 1324–1332. Portico. https://doi.org/10.1111/apa.16732

American Journal of Medical Genetics Part A / May 22, 2023

Schneider, S., Schierbaum, L., Burger, W. A. C., Seltzsam, S., Wang, C., Zheng, B., Wu, C. W., Nakayama, M., Connaughton, D. M., Mann, N., Shalaby, M. A., Kari, J. A., ElDesoky, S., Tasic, V., Eid, L. A., Shril, S., Thal, D. M., & Hildebrandt, F. (2023). Recessive <scp>CHRM5</scp> variant as a potential cause of neurogenic bladder. American Journal of Medical Genetics Part A, 191(8), 2083–2091. Portico. https://doi.org/10.1002/ajmg.a.63241

American Journal of Medical Genetics Part A / Jan 24, 2023

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. (2023). A homozygous truncating <scp>ETV4</scp> variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. American Journal of Medical Genetics Part A, 191(5), 1355–1359. Portico. https://doi.org/10.1002/ajmg.a.63127

Kidney International Reports / Mar 01, 2023

MERTENS, N. D., Kano, K., Merz, L. M., El Desoky, S., A Kari, J., Gyung Kang, H., Cingöz, S., Shril, S., Aoki, J., & Hildebrandt, F. (2023). WCN23-0159 ENPP6 IS A POTENTIAL NOVEL CANDIDATE GENE FOR MONOGENIC CONGENITAL ANOMALIES OF THE KIDNEYS AND URINARY TRACT. Kidney International Reports, 8(3), S242. https://doi.org/10.1016/j.ekir.2023.02.545

Genetics in Medicine / Mar 01, 2023

Majmundar, A. J., Widmeier, E., Heneghan, J. F., Daga, A., Wu, C.-H. W., Buerger, F., Hugo, H., Ullah, I., Amar, A., Ottlewski, I., Braun, D. A., Jobst-Schwan, T., Lawson, J. A., Zahoor, M. Y., Rodig, N. M., Tasic, V., Nelson, C. P., Khaliq, S., Schönauer, R., … Hildebrandt, F. (2023). OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genetics in Medicine, 25(3), 100351. https://doi.org/10.1016/j.gim.2022.11.019

Oct 05, 2023

Lemire, G., Sanchis-Juan, A., Russell, K., Baxter, S., Chao, K. R., Singer-Berk, M., Groopman, E., Wong, I., England, E., Goodrich, J., Pais, L., Austin-Tse, C., DiTroia, S., O’Heir, E., Ganesh, V. S., Wojcik, M. H., Evangelista, E., Snow, H., Osei-Owusu, I., … O’Donnell-Luria, A. (2023). Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. https://doi.org/10.1101/2023.10.05.23296595

Molecular Genetics and Metabolism / Apr 01, 2021

Wojcik, M., Chao, K., Goodrich, J., Pais, L., DiTroia, S., O’Heir, E., Ganesh, V., Weisburd, B., Beggs, A., Baxter, S., Agrawal, P., Pajusalu, S., Ounap, K., MacArthur, D., Rehm, H., & O’Donnell-Luria, A. (2021). More than a fancy exome: unique capabilities of genome sequencing for pediatric rare disease diagnosis. Molecular Genetics and Metabolism, 132, S88. https://doi.org/10.1016/s1096-7192(21)00217-1

Sep 14, 2022

Barry, A., McNulty, M. T., Jia, X., Gupta, Y., Debiec, H., Luo, Y., Nagano, C., Horinouchi, T., Jung, S., Colucci, M., Ahram, D. F., Mitrotti, A., Sinha, A., Teeninga, N., Jin, G., Shril, S., Caridi, G., Bodria, M., Lim, T. Y., … Sampson, M. G. (2022). Multi-population genome-wide association study implicates both immune and non-immune factors in the etiology of pediatric steroid sensitive nephrotic syndrome. https://doi.org/10.1101/2022.09.13.22279644

The Journal of Clinical Endocrinology & Metabolism / Feb 09, 2022

Habiby, R., Bichet, D. G., Arthus, M.-F., Connaughton, D., Shril, S., Mane, S., Majmundar, A. J., Hildebrandt, F., & Robertson, G. L. (2022). A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. The Journal of Clinical Endocrinology &amp; Metabolism, 107(6), e2513–e2522. https://doi.org/10.1210/clinem/dgac076