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The copy number variation landscape of congenital anomalies of the kidney and urinary tract M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ... Nature genetics 51 (1), 117-127, 2019 | 211 | 2019 |
Whole-exome sequencing in adults with chronic kidney disease: a pilot study S Lata, M Marasa, Y Li, DA Fasel, E Groopman, V Jobanputra, H Rasouly, ... Annals of internal medicine 168 (2), 100-109, 2018 | 199 | 2018 |
Genetic drivers of kidney defects in the DiGeorge syndrome E Lopez-Rivera, YP Liu, M Verbitsky, BR Anderson, VP Capone, EA Otto, ... New England Journal of Medicine 376 (8), 742-754, 2017 | 148 | 2017 |
Exome-wide association study identifies GREB1L mutations in congenital kidney malformations S Sanna-Cherchi, K Khan, R Westland, P Krithivasan, L Fievet, ... The American Journal of Human Genetics 101 (5), 789-802, 2017 | 101 | 2017 |
The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing HM Rasouly, EE Groopman, R Heyman-Kantor, DA Fasel, A Mitrotti, ... Annals of internal medicine 170 (1), 11-21, 2019 | 74 | 2019 |
Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy K Kiryluk, E Sanchez-Rodriguez, XJ Zhou, F Zanoni, L Liu, N Mladkova, ... Nature genetics 55 (7), 1091-1105, 2023 | 50 | 2023 |
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease Y Gupta, DJ Friedman, MT McNulty, A Khan, B Lane, C Wang, J Ke, G Jin, ... Nature communications 14 (1), 7836, 2023 | 18 | 2023 |
Copy number variant analysis and genome-wide association study identify loci with large effect for vesicoureteral reflux M Verbitsky, P Krithivasan, E Batourina, A Khan, SE Graham, M Marasà, ... Journal of the American Society of Nephrology 32 (4), 805-820, 2021 | 18 | 2021 |
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis PL Weng, AJ Majmundar, K Khan, TY Lim, S Shril, G Jin, J Musgrove, ... The American Journal of Human Genetics 108 (2), 357-367, 2021 | 18 | 2021 |
Autoantibodies targeting nephrin in podocytopathies FE Hengel, S Dehde, M Lassé, G Zahner, L Seifert, A Schnarre, O Kretz, ... New England Journal of Medicine 391 (5), 422-433, 2024 | 16 | 2024 |
Duplication of the gene in an sry-negative 46, XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature V Tasic, A Mitrotti, FG Riepe, AE Kulle, N Laban, M Polenakovic, ... Balkan Journal of Medical Genetics 22 (1), 81-88, 2019 | 15 | 2019 |
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome A Barry, MT McNulty, X Jia, Y Gupta, H Debiec, Y Luo, C Nagano, ... Nature communications 14 (1), 2481, 2023 | 14 | 2023 |
The frequency of rare and monogenic diseases in pediatric organ transplant recipients in Italy T Vaisitti, D Peritore, P Magistroni, A Ricci, L Lombardini, E Gringeri, ... Orphanet Journal of Rare Diseases 16, 1-17, 2021 | 11 | 2021 |
GWAS defines pathogenic signaling pathways and prioritizes drug targets for IgA nephropathy K Kiryluk, E Sanchez-Rodriguez, X Zhou, F Zanoni, L Liu, N Mladkova, ... medRxiv, 2021.11. 19.21265383, 2021 | 6 | 2021 |
Rare single nucleotide and copy number variants and the etiology of congenital obstructive uropathy: implications for genetic diagnosis DF Ahram, TY Lim, J Ke, G Jin, M Verbitsky, M Bodria, BH Kil, ... Journal of the American Society of Nephrology 34 (6), 1105-1119, 2023 | 5 | 2023 |
P1084 Long term evaluation of the expanded hemodialysis (hdx) on dialysis adequacy, anemia and quality of life G Gernone, F Partipilo, F Detomaso, V Pepe, S Pietanza, A Mitrotti Nephrology Dialysis Transplantation 35 (Supplement_3), gfaa142. P1084, 2020 | 4 | 2020 |
Hidden genetics behind glomerular scars: an opportunity to understand the heterogeneity of focal segmental glomerulosclerosis? A Mitrotti, M Giliberti, V Di Leo, I di Bari, P Pontrelli, L Gesualdo Pediatric Nephrology 39 (6), 1685-1707, 2024 | 3 | 2024 |
The complement system in the pathogenesis and progression of kidney diseases: What doesn't kill you makes you older ED Stea, G D'Ettorre, A Mitrotti, L Gesualdo European Journal of Internal Medicine, 2024 | 3 | 2024 |
Implementation and feasibility of clinical genome sequencing embedded into the outpatient nephrology care for patients with proteinuric kidney disease M Marasa, DF Ahram, AU Rehman, A Mitrotti, A Abhyankar, NG Jain, ... Kidney International Reports 8 (8), 1638-1647, 2023 | 2 | 2023 |