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Year Number of Results
2012 1
2013 1
2016 2
2017 2
2018 5
2019 5
2020 10
2021 7
2022 7
2023 11
2024 3

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46 results

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Page 1
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF, Bogyo K, Kapoor S, Shea PR, Groopman EE, Thomas-Wilson A, Cocchi E, Milo Rasouly H, Zheng B, Sun S, Zhang J, Martinez M, Vittorio JM, Dove LM, Marasa M, Wang TC, Verna EC, Worman HJ, Gharavi AG, Goldstein DB, Wattacheril J. Kong XF, et al. Among authors: milo rasouly h. Sci Rep. 2023 Dec 6;13(1):21540. doi: 10.1038/s41598-023-42202-1. Sci Rep. 2023. PMID: 38057357 Free PMC article.
The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.
Dahl NK, Bloom MS, Chebib FT, Clark D, Westemeyer M, Jandeska S, Zhang Z, Milo-Rasouly H, Kolupaeva V, Marasa M, Broumand V, Fatica RA, Raj DS, Demko ZP, Marshall K, Punj S, Tabriziani H, Bhorade S, Gharavi AG. Dahl NK, et al. Among authors: milo rasouly h. J Am Soc Nephrol. 2023 Dec 1;34(12):2039-2050. doi: 10.1681/ASN.0000000000000249. Epub 2023 Oct 5. J Am Soc Nephrol. 2023. PMID: 37794564
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. Among authors: milo rasouly h. Genet Med. 2023 Dec;25(12):100983. doi: 10.1016/j.gim.2023.100983. Epub 2023 Sep 21. Genet Med. 2023. PMID: 37746849
Association of COVID-19 Versus COVID-19 Vaccination With Kidney Function and Disease Activity in Primary Glomerular Disease: A Report of the Cure Glomerulonephropathy Study.
Wang CS, Glenn DA, Helmuth M, Smith AR, Bomback AS, Canetta PA, Coppock GM, Khalid M, Tuttle KR, Bou-Matar R, Greenbaum LA, Robinson BM, Holzman LB, Smoyer WE, Rheault MN, Gipson D, Mariani LH; Cure Glomerulonephropathy (CureGN) Study Consortium. Wang CS, et al. Am J Kidney Dis. 2024 Jan;83(1):37-46. doi: 10.1053/j.ajkd.2023.07.008. Epub 2023 Aug 31. Am J Kidney Dis. 2024. PMID: 37657635
Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes.
Elliott MD, Marasa M, Cocchi E, Vena N, Zhang JY, Khan A, Krishna Murthy S, Bheda S, Milo Rasouly H, Povysil G, Kiryluk K, Gharavi AG. Elliott MD, et al. Among authors: milo rasouly h. J Am Soc Nephrol. 2023 May 1;34(5):909-919. doi: 10.1681/ASN.0000000000000094. Epub 2023 Feb 9. J Am Soc Nephrol. 2023. PMID: 36758113 Free PMC article.
Age of Onset and Disease Course in Biopsy-Proven Minimal Change Disease: An Analysis From the Cure Glomerulonephropathy Network.
Chen DP, Helmuth ME, Smith AR, Canetta PA, Ayoub I, Mucha K, Kallash M, Kopp JB, Gbadegesin R, Gillespie BW, Greenbaum LA, Parekh RS, Hunley TE, Sperati CJ, Selewski DT, Kidd J, Chishti A, Reidy K, Mottl AK, Gipson DS, Srivastava T, Twombley KE; CureGN Consortium. Chen DP, et al. Am J Kidney Dis. 2023 Jun;81(6):695-706.e1. doi: 10.1053/j.ajkd.2022.11.012. Epub 2023 Jan 3. Am J Kidney Dis. 2023. PMID: 36608921
46 results