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A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA. Shao DD, et al. Among authors: shril s. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, Shril S, Hwang DY, Weiss AC, Kaminski MM, Shukrun R, Kemper MJ, Lehnhardt A, Beetz R, Sanna-Cherchi S, Verbitsky M, Gharavi AG, Stuart HM, Feather SA, Goodship JA, Goodship TH, Woolf AS, Westra SJ, Doody DP, Bauer SB, Lee RS, Adam RM, Lu W, Reutter HM, Kehinde EO, Mancini EJ, Lifton RP, Tasic V, Lienkamp SS, Jüppner H, Kispert A, Hildebrandt F. Vivante A, et al. Among authors: shril s. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235987 Free PMC article.
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.
Braun DA, Lawson JA, Gee HY, Halbritter J, Shril S, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Fisher B, Spaneas L, Varner J, Sayer JA, Milosevic D, Baum M, Tasic V, Hildebrandt F. Braun DA, et al. Among authors: shril s. Clin J Am Soc Nephrol. 2016 Apr 7;11(4):664-72. doi: 10.2215/CJN.07540715. Epub 2016 Jan 19. Clin J Am Soc Nephrol. 2016. PMID: 26787776 Free PMC article.
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 DY, Shril S, Dworschak GC, Van Der Ven A, Sanna-Cherchi S, Bauer SB, Lee RS, Soliman NA, Kehinde EO, Reutter HM, Tasic V, Hildebrandt F. Kohl S, et al. Among authors: shril s. Nephrol Dial Transplant. 2016 Aug;31(8):1280-3. doi: 10.1093/ndt/gfv447. Epub 2016 Jan 29. Nephrol Dial Transplant. 2016. PMID: 26908769 Free PMC article.
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: shril s. 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.
Mutations in SLC26A1 Cause Nephrolithiasis.
Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Gee HY, et al. Among authors: shril s. Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19. Am J Hum Genet. 2016. PMID: 27210743 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: shril s. 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.
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG. Sanna-Cherchi S, et al. Among authors: shril s. Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Am J Hum Genet. 2017. PMID: 29100090 Free PMC article.
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model.
Jobst-Schwan T, Schmidt JM, Schneider R, Hoogstraten CA, Ullmann JFP, Schapiro D, Majmundar AJ, Kolb A, Eddy K, Shril S, Braun DA, Poduri A, Hildebrandt F. Jobst-Schwan T, et al. Among authors: shril s. PLoS One. 2018 Jan 18;13(1):e0191503. doi: 10.1371/journal.pone.0191503. eCollection 2018. PLoS One. 2018. PMID: 29346415 Free PMC article.
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
van der Ven AT, Kobbe B, Kohl S, Shril S, Pogoda HM, Imhof T, Ityel H, Vivante A, Chen J, Hwang DY, Connaughton DM, Mann N, Widmeier E, Taglienti M, Schmidt JM, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde EO, Mane SM, Lifton RP, Soliman N, Lu W, Bauer SB, Hammerschmidt M, Wagener R, Hildebrandt F. van der Ven AT, et al. Among authors: shril s. PLoS One. 2018 Jan 19;13(1):e0191224. doi: 10.1371/journal.pone.0191224. eCollection 2018. PLoS One. 2018. PMID: 29351342 Free PMC article.
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