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Adele Mitrotti
Adele Mitrotti
MD, Phd student
在 policlinico.ba.it 的电子邮件经过验证
标题
引用次数
引用次数
年份
Diagnostic utility of exome sequencing for kidney disease
EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ...
New England Journal of Medicine 380 (2), 142-151, 2019
6532019
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
2112019
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
1992018
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
1482017
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
1012017
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
742019
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
502023
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
182023
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
182021
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
182021
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
162024
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
152019
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
142023
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
112021
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
62021
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
52023
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
42020
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
32024
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
32024
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
22023
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