| 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 | 652 | 2015 |
| Monogenic causes of chronic kidney disease in adults DM Connaughton, C Kennedy, S Shril, N Mann, SL Murray, PA Williams, ... Kidney international 95 (4), 914-928, 2019 | 238 | 2019 |
| 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 | 233 | 2018 |
| 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 | 206 | 2019 |
| Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ... Nature genetics 49 (10), 1529-1538, 2017 | 199 | 2017 |
| Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 195 | 2017 |
| 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, ... Journal of the American Society of Nephrology 29 (9), 2348-2361, 2018 | 189 | 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 | 186 | 2018 |
| Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome DA Braun, CE Sadowski, S Kohl, S Lovric, SA Astrinidis, WL Pabst, ... Nature genetics 48 (4), 457-465, 2016 | 185 | 2016 |
| Prevalence of monogenic causes in pediatric patients with nephrolithiasis or nephrocalcinosis DA Braun, JA Lawson, HY Gee, J Halbritter, S Shril, W Tan, D Stein, ... Clinical Journal of the American Society of Nephrology 11 (4), 664-672, 2016 | 144 | 2016 |
| Whole-exome sequencing enables a precision medicine approach for kidney transplant recipients N Mann, DA Braun, K Amann, W Tan, S Shril, DM Connaughton, ... Journal of the American Society of Nephrology 30 (2), 201-215, 2019 | 139 | 2019 |
| Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment S Ashraf, H Kudo, J Rao, A Kikuchi, E Widmeier, JA Lawson, W Tan, ... Nature communications 9 (1), 1960, 2018 | 121 | 2018 |
| 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 | 120 | 2018 |
| Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity DA Braun, M Schueler, J Halbritter, HY Gee, JD Porath, JA Lawson, ... Kidney international 89 (2), 468-475, 2016 | 105 | 2016 |
| Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract A Vivante, DY Hwang, S Kohl, J Chen, S Shril, J Schulz, A Van Der Ven, ... Journal of the American Society of Nephrology 28 (1), 69-75, 2017 | 102 | 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 |
| Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development A Vivante, MJ Kleppa, J Schulz, S Kohl, A Sharma, J Chen, S Shril, ... The American Journal of Human Genetics 97 (2), 291-301, 2015 | 90 | 2015 |
| Mutations in WDR4 as a new cause of Galloway–Mowat syndrome DA Braun, S Shril, A Sinha, R Schneider, W Tan, S Ashraf, T Hermle, ... American journal of medical genetics Part A 176 (11), 2460-2465, 2018 | 73 | 2018 |
| Mutations in SLC26A1 cause nephrolithiasis HY Gee, I Jun, DA Braun, JA Lawson, J Halbritter, S Shril, CP Nelson, ... The American Journal of Human Genetics 98 (6), 1228-1234, 2016 | 63 | 2016 |
| GAPVD1 and ANKFY1 mutations implicate RAB5 regulation in nephrotic syndrome T Hermle, R Schneider, D Schapiro, DA Braun, AT Van Der Ven, ... Journal of the American Society of Nephrology 29 (8), 2123-2138, 2018 | 57 | 2018 |
