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Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC, Lundie B, Hort Y, Schonrock N, Senum SR, Gayevskiy V, Minoche AE, Hollway G, Ohnesorg T, Hinchcliffe M, Patel C, Tchan M, Mallett A, Dinger ME, Rangan G, Cowley MJ, Harris PC, Burnett L, Shine J, Furlong TJ. Mallawaarachchi AC, et al. Among authors: senum sr. Eur J Hum Genet. 2021 May;29(5):760-770. doi: 10.1038/s41431-020-00796-4. Epub 2021 Jan 12. Eur J Hum Genet. 2021. PMID: 33437033 Free PMC article.
Polycystic Kidney Disease without an Apparent Family History.
Iliuta IA, Kalatharan V, Wang K, Cornec-Le Gall E, Conklin J, Pourafkari M, Ting R, Chen C, Borgo AC, He N, Song X, Heyer CM, Senum SR, Hwang YH, Paterson AD, Harris PC, Khalili K, Pei Y. Iliuta IA, et al. Among authors: senum sr. J Am Soc Nephrol. 2017 Sep;28(9):2768-2776. doi: 10.1681/ASN.2016090938. Epub 2017 May 18. J Am Soc Nephrol. 2017. PMID: 28522688 Free PMC article.
Can we further enrich autosomal dominant polycystic kidney disease clinical trials for rapidly progressive patients? Application of the PROPKD score in the TEMPO trial.
Cornec-Le Gall E, Blais JD, Irazabal MV, Devuyst O, Gansevoort RT, Perrone RD, Chapman AB, Czerwiec FS, Ouyang J, Heyer CM, Senum SR, Le Meur Y, Torres VE, Harris PC. Cornec-Le Gall E, et al. Among authors: senum sr. Nephrol Dial Transplant. 2018 Apr 1;33(4):645-652. doi: 10.1093/ndt/gfx188. Nephrol Dial Transplant. 2018. PMID: 28992127 Free PMC article. Clinical Trial.
The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.
Cornec-Le Gall E, Chebib FT, Madsen CD, Senum SR, Heyer CM, Lanpher BC, Patterson MC, Albright RC, Yu AS, Torres VE; HALT Progression of Polycystic Kidney Disease Group Investigators; Harris PC. Cornec-Le Gall E, et al. Among authors: senum sr. Am J Kidney Dis. 2018 Aug;72(2):302-308. doi: 10.1053/j.ajkd.2017.11.015. Epub 2018 Feb 1. Am J Kidney Dis. 2018. PMID: 29395486 Free PMC article.
Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease.
Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, Coulibaly JM, Yu AS, Khalili K, Pei Y, Somlo S, Le Meur Y, Torres VE; Genkyst Study Group; HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease; Harris PC. Cornec-Le Gall E, et al. Among authors: senum sr. Am J Hum Genet. 2018 May 3;102(5):832-844. doi: 10.1016/j.ajhg.2018.03.013. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706351 Free PMC article.
Long-Term Administration of Tolvaptan in Autosomal Dominant Polycystic Kidney Disease.
Edwards ME, Chebib FT, Irazabal MV, Ofstie TG, Bungum LA, Metzger AJ, Senum SR, Hogan MC, El-Zoghby ZM, Kline TL, Harris PC, Czerwiec FS, Torres VE. Edwards ME, et al. Among authors: senum sr. Clin J Am Soc Nephrol. 2018 Aug 7;13(8):1153-1161. doi: 10.2215/CJN.01520218. Epub 2018 Jul 19. Clin J Am Soc Nephrol. 2018. PMID: 30026287 Free PMC article. Clinical Trial.
Bacterial Cholangitis in Autosomal Dominant Polycystic Kidney and Liver Disease.
Martin WP, Vaughan LE, Yoshida K, Takahashi N, Edwards ME, Metzger A, Senum SR, Masyuk TV, LaRusso NF, Griffin MD, El-Zoghby Z, Harris PC, Kremers WK, Nagorney DM, Kamath PS, Torres VE, Hogan MC. Martin WP, et al. Among authors: senum sr. Mayo Clin Proc Innov Qual Outcomes. 2019 May 27;3(2):149-159. doi: 10.1016/j.mayocpiqo.2019.03.004. eCollection 2019 Jun. Mayo Clin Proc Innov Qual Outcomes. 2019. PMID: 31193902 Free PMC article.
Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County.
Suwabe T, Shukoor S, Chamberlain AM, Killian JM, King BF, Edwards M, Senum SR, Madsen CD, Chebib FT, Hogan MC, Cornec-Le Gall E, Harris PC, Torres VE. Suwabe T, et al. Among authors: senum sr. Clin J Am Soc Nephrol. 2020 Jan 7;15(1):69-79. doi: 10.2215/CJN.05900519. Epub 2019 Dec 2. Clin J Am Soc Nephrol. 2020. PMID: 31791998 Free PMC article.
Detection and characterization of mosaicism in autosomal dominant polycystic kidney disease.
Hopp K, Cornec-Le Gall E, Senum SR, Te Paske IBAW, Raj S, Lavu S, Baheti S, Edwards ME, Madsen CD, Heyer CM, Ong ACM, Bae KT, Fatica R, Steinman TI, Chapman AB, Gitomer B, Perrone RD, Rahbari-Oskoui FF, Torres VE; HALT Progression of Polycystic Kidney Disease Group, the ADPKD Modifier Study; Harris PC. Hopp K, et al. Among authors: senum sr. Kidney Int. 2020 Feb;97(2):370-382. doi: 10.1016/j.kint.2019.08.038. Epub 2019 Oct 9. Kidney Int. 2020. PMID: 31874800 Free PMC article.
25 results