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Page 1
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Vivante A, Hwang DY, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman NA, Kumar AS, Senguttuvan P, Kehinde EO, Tasic V, Hildebrandt F. Vivante A, et al. Among authors: daouk g. J Am Soc Nephrol. 2017 Jan;28(1):69-75. doi: 10.1681/ASN.2015080962. Epub 2016 May 5. J Am Soc Nephrol. 2017. PMID: 27151922 Free PMC article.
Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.
Warejko JK, Tan W, Daga A, Schapiro D, Lawson JA, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Schneider R, Gee HY, Schmidt JM, Vivante A, van der Ven AT, Ityel H, Chen J, Sadowski CE, Kohl S, Pabst WL, Nakayama M, Somers MJG, Rodig NM, Daouk G, Baum M, Stein DR, Ferguson MA, Traum AZ, Soliman NA, Kari JA, El Desoky S, Fathy H, Zenker M, Bakkaloglu SA, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai MA, Hashmi S, Hopcian J, Kopp JB, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz RL, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton RP, Braun DA, Hildebrandt F. Warejko JK, et al. Among authors: daouk g. Clin J Am Soc Nephrol. 2018 Jan 6;13(1):53-62. doi: 10.2215/CJN.04120417. Epub 2017 Nov 10. Clin J Am Soc Nephrol. 2018. PMID: 29127259 Free PMC article.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. Among authors: daouk gh. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N, Braun DA, Amann K, Tan W, Shril S, Connaughton DM, Nakayama M, Schneider R, Kitzler TM, van der Ven AT, Chen J, Ityel H, Vivante A, Majmundar AJ, Daga A, Warejko JK, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane SM, Spaneas L, Somers MJG, Ferguson MA, Traum AZ, Stein DR, Baum MA, Daouk GH, Lifton RP, Manzi S, Vakili K, Kim HB, Rodig NM, Hildebrandt F. Mann N, et al. Among authors: daouk gh. J Am Soc Nephrol. 2019 Feb;30(2):201-215. doi: 10.1681/ASN.2018060575. Epub 2019 Jan 17. J Am Soc Nephrol. 2019. PMID: 30655312 Free PMC article.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton DM, Wu CW, Schneider S, Schierbaum L, Kause F, Kolvenbach CM, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford AC, Nicolas-Frank C, Yousef K, Pantel D, Lai EW, Salmanullah D, Majmundar AJ, Bauer SB, Rodig NM, Somers MJG, Traum AZ, Stein DR, Daga A, Baum MA, Daouk GH, Tasic V, Awad HS, Eid LA, El Desoky S, Shalaby M, Kari JA, Fathy HM, Soliman NA, Mane SM, Shril S, Ferguson MA, Hildebrandt F. Seltzsam S, et al. Among authors: daouk gh. Genet Med. 2022 Feb;24(2):307-318. doi: 10.1016/j.gim.2021.09.010. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906515 Free PMC article.
Whole Exome Sequencing Reveals a Monogenic Cause of Disease in ≈43% of 35 Families With Midaortic Syndrome.
Warejko JK, Schueler M, Vivante A, Tan W, Daga A, Lawson JA, Braun DA, Shril S, Amann K, Somers MJG, Rodig NM, Baum MA, Daouk G, Traum AZ, Kim HB, Vakili K, Porras D, Lock J, Rivkin MJ, Chaudry G, Smoot LB, Singh MN, Smith ER, Mane SM, Lifton RP, Stein DR, Ferguson MA, Hildebrandt F. Warejko JK, et al. Among authors: daouk g. Hypertension. 2018 Apr;71(4):691-699. doi: 10.1161/HYPERTENSIONAHA.117.10296. Epub 2018 Feb 26. Hypertension. 2018. PMID: 29483232 Free PMC article.
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Daga A, et al. Among authors: daouk gh. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12. Kidney Int. 2018. PMID: 28893421 Free PMC article.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Connaughton DM, Dai R, Owen DJ, Marquez J, Mann N, Graham-Paquin AL, Nakayama M, Coyaud E, Laurent EMN, St-Germain JR, Blok LS, Vino A, Klämbt V, Deutsch K, Wu CW, Kolvenbach CM, Kause F, Ottlewski I, Schneider R, Kitzler TM, Majmundar AJ, Buerger F, Onuchic-Whitford AC, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven AT, Rao J, Ityel H, Seltzsam S, Rieke JM, Chen J, Vivante A, Hwang DY, Kohl S, Dworschak GC, Hermle T, Alders M, Bartolomaeus T, Bauer SB, Baum MA, Brilstra EH, Challman TD, Zyskind J, Costin CE, Dipple KM, Duijkers FA, Ferguson M, Fitzpatrick DR, Fick R, Glass IA, Hulick PJ, Kline AD, Krey I, Kumar S, Lu W, Marco EJ, Wentzensen IM, Mefford HC, Platzer K, Povolotskaya IS, Savatt JM, Shcherbakova NV, Senguttuvan P, Squire AE, Stein DR, Thiffault I, Voinova VY, Somers MJG, Ferguson MA, Traum AZ, Daouk GH, Daga A, Rodig NM, Terhal PA, van Binsbergen E, Eid LA, Tasic V, Rasouly HM, Lim TY, Ahram DF, Gharavi AG, Reutter HM, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Lifton RP, Xu H, Mane SM, Sanna-Cherchi S, Sharrocks AD, Raught B, Fisher SE, Bouchard M, Khokha MK, Shril S, Hildebrandt F. Connaughton DM, et al. Among authors: daouk gh. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4. Am J Hum Genet. 2020. PMID: 32891193 Free PMC article.
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Tan W, Lovric S, Ashraf S, Rao J, Schapiro D, Airik M, Shril S, Gee HY, Baum M, Daouk G, Ferguson MA, Rodig N, Somers MJG, Stein DR, Vivante A, Warejko JK, Widmeier E, Hildebrandt F. Tan W, et al. Among authors: daouk g. Pediatr Nephrol. 2018 Feb;33(2):305-314. doi: 10.1007/s00467-017-3801-6. Epub 2017 Sep 18. Pediatr Nephrol. 2018. PMID: 28921387 Free PMC article.
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome.
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, El Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Braun DA, et al. Among authors: daouk g. Nephrol Dial Transplant. 2019 Mar 1;34(3):485-493. doi: 10.1093/ndt/gfy028. Nephrol Dial Transplant. 2019. PMID: 29534211 Free PMC article.
22 results