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Page 1
Genomic medicine for kidney disease.
Groopman EE, Rasouly HM, Gharavi AG. Groopman EE, et al. Nat Rev Nephrol. 2018 Feb;14(2):83-104. doi: 10.1038/nrneph.2017.167. Epub 2018 Jan 8. Nat Rev Nephrol. 2018. PMID: 29307893 Free PMC article. Review.
Genetic testing for kidney disease of unknown etiology.
Hays T, Groopman EE, Gharavi AG. Hays T, et al. Kidney Int. 2020 Sep;98(3):590-600. doi: 10.1016/j.kint.2020.03.031. Epub 2020 Apr 24. Kidney Int. 2020. PMID: 32739203 Free PMC article. Review.
Rare genetic causes of complex kidney and urological diseases.
Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Groopman EE, et al. Nat Rev Nephrol. 2020 Nov;16(11):641-656. doi: 10.1038/s41581-020-0325-2. Epub 2020 Aug 17. Nat Rev Nephrol. 2020. PMID: 32807983 Free PMC article. Review.
The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Verbitsky M, et al. Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Nat Genet. 2019. PMID: 30578417 Free PMC article.
Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.
Martino J, Liu Q, Vukojevic K, Ke J, Lim TY, Khan A, Gupta Y, Perez A, Yan Z, Milo Rasouly H, Vena N, Lippa N, Giordano JL, Saraga M, Saraga-Babic M, Westland R, Bodria M, Piaggio G, Bendapudi PK, Iglesias AD, Wapner RJ, Tasic V, Wang F, Ionita-Laza I, Ghiggeri GM, Kiryluk K, Sampogna RV, Mendelsohn CL, D'Agati VD, Gharavi AG, Sanna-Cherchi S. Martino J, et al. Genet Med. 2023 Dec;25(12):100983. doi: 10.1016/j.gim.2023.100983. Epub 2023 Sep 21. Genet Med. 2023. PMID: 37746849
Genomic Disorders in CKD across the Lifespan.
Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
Not all proteinuria is created equal.
Beenken A, Barasch JM, Gharavi AG. Beenken A, et al. J Clin Invest. 2020 Jan 2;130(1):74-76. doi: 10.1172/JCI133250. J Clin Invest. 2020. PMID: 31793908 Free PMC article.
Diverse genetic causes of polymicrogyria with epilepsy.
Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsy Phenome/Genome Project, Epi4K Consortium. Epilepsia. 2021 Apr;62(4):973-983. doi: 10.1111/epi.16854. Epub 2021 Apr 5. Epilepsia. 2021. PMID: 33818783 Free PMC article.
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