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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: sampson mg. 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.
Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: sampson mg. Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159250 Free PMC article.
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR; Nephrotic Syndrome Study Network. Sampson MG, et al. J Am Soc Nephrol. 2016 Mar;27(3):814-23. doi: 10.1681/ASN.2014111131. Epub 2015 Jul 6. J Am Soc Nephrol. 2016. PMID: 26150607 Free PMC article.
tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.
Gillies CE, Otto EA, Vega-Warner V, Robertson CC, Sanna-Cherchi S, Gharavi A, Crawford B, Bhimma R, Winkler C; Nephrotic Syndrome Study Network (NEPTUNE); C-PROBE InvestigatorGroup of the Michigan Kidney Translational Core Center; Kang HM, Sampson MG. Gillies CE, et al. Among authors: sampson mg. BMC Bioinformatics. 2016 Jun 10;17(1):233. doi: 10.1186/s12859-016-1108-4. BMC Bioinformatics. 2016. PMID: 27287006 Free PMC article.
104 results