A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ... Journal of the American society of nephrology 26 (6), 1279-1289, 2015 | 629 | 2015 |
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling HY Gee, P Saisawat, S Ashraf, TW Hurd, V Vega-Warner, H Fang, ... The Journal of clinical investigation 123 (8), 3243-3253, 2013 | 254 | 2013 |
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome JK Warejko, W Tan, A Daga, D Schapiro, JA Lawson, S Shril, S Lovric, ... Clinical Journal of the American Society of Nephrology 13 (1), 53-62, 2018 | 220 | 2018 |
Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract AT van der Ven, DM Connaughton, H Ityel, N Mann, M Nakayama, J Chen, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 179 | 2018 |
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis A Daga, AJ Majmundar, DA Braun, HY Gee, JA Lawson, S Shril, ... Kidney international 93 (1), 204-213, 2018 | 169 | 2018 |
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria B Ovunc, EA Otto, V Vega-Warner, P Saisawat, S Ashraf, G Ramaswami, ... Journal of the American Society of Nephrology 22 (10), 1815-1820, 2011 | 109 | 2011 |
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome DA Braun, S Lovric, D Schapiro, R Schneider, J Marquez, M Asif, ... The Journal of clinical investigation 128 (10), 4313-4328, 2018 | 106 | 2018 |
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies HY Gee, EA Otto, TW Hurd, S Ashraf, M Chaki, A Cluckey, V Vega-Warner, ... Kidney international 85 (4), 880-887, 2014 | 84 | 2014 |
Adult systemic lupus erythematosus in Egypt: The nation-wide spectrum of 3661 patients and world-wide standpoint TA Gheita, RA Noor, E Abualfadl, OS Abousehly, II El-Gazzar, ... Lupus 30 (9), 1526-1535, 2021 | 60 | 2021 |
Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis T Jobst-Schwan, V Klämbt, M Tarsio, JF Heneghan, AJ Majmundar, ... Kidney international 97 (3), 567-579, 2020 | 52 | 2020 |
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype I Perrault, J Halbritter, JD Porath, X Gérard, DA Braun, HY Gee, HM Fathy, ... Journal of medical genetics 52 (10), 657-665, 2015 | 44 | 2015 |
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT S Seltzsam, C Wang, B Zheng, N Mann, DM Connaughton, CHW Wu, ... Genetics in Medicine 24 (2), 307-318, 2022 | 16 | 2022 |
Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression C Yang, N Harafuji, AK O’Connor, RA Kesterson, JA Watts, AJ Majmundar, ... Scientific Reports 11 (1), 18274, 2021 | 11 | 2021 |
Systemic lupus erythematosus children in Egypt: Homeland spectrum amid the global situation NN Eesa, H Abdel Nabi, RE Owaidy, I Khalifa, AR Radwan, ... Lupus 30 (13), 2135-2143, 2021 | 9 | 2021 |
Recessive mutations in SYNPO2 as a candidate of monogenic nephrotic syndrome Y Mao, R Schneider, PFM van der Ven, M Assent, K Lohanadan, V Klämbt, ... Kidney International Reports 6 (2), 472-483, 2021 | 8 | 2021 |
Lupus nephritis: correlation of immunohistochemical expression of C4d, CD163-positive M2c-like macrophages and Foxp3-expressing regulatory T cells with disease activity and … MAES Maram Allam, Hanan Fathy, Dina Abd Allah Lupus 29 (8), 943-953, 2020 | 8 | 2020 |
Copy number variation analysis facilitates identification of genetic Causation in patients with congenital anomalies of the kidney and urinary tract CHW Wu, TY Lim, C Wang, S Seltzsam, B Zheng, L Schierbaum, ... European Urology Open Science 44, 106-112, 2022 | 5 | 2022 |
Clinical and laboratory study of infants and children with Bartter syndrome attending Alexandria University Children’s Hospital (10 years experience) M Thabet, OA Sharaki, HM Fathy, AZZ Ayoub Alexandria Journal of Pediatrics 30 (1), 1-10, 2017 | 3 | 2017 |
Hildebrandt F (2014) A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome CE Sadowski, S Lovric, S Ashraf, WL Pabst, HY Gee, S Kohl, ... J Am Soc Nephrol. doi 10, 0 | 3 | |
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first two years of life SA Elshafey, MAEH Thabet, RAH Abo Elwafa, R Schneider, S Shril, ... Acta Paediatrica 112 (6), 1324-1332, 2023 | 2 | 2023 |