| 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 | 683 | 2015 |
| Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy J Halbritter, JD Porath, KA Diaz, DA Braun, S Kohl, M Chaki, SJ Allen, ... Human genetics 132, 865-884, 2013 | 267 | 2013 |
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 249 | 2013 |
| Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis J Halbritter, M Baum, AM Hynes, SJ Rice, DT Thwaites, ZS Gucev, ... Journal of the American Society of Nephrology 26 (3), 543-551, 2015 | 243 | 2015 |
| Zebrafish ciliopathy screen plus human mutational analysis identifies C21orf59 and CCDC65 defects as causing primary ciliary dyskinesia C Austin-Tse, J Halbritter, MA Zariwala, RM Gilberti, HY Gee, N Hellman, ... The American Journal of Human Genetics 93 (4), 672-686, 2013 | 240 | 2013 |
| Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype MR Knowles, LE Ostrowski, MW Leigh, PR Sears, SD Davis, WE Wolf, ... American journal of respiratory and critical care medicine 189 (6), 707-717, 2014 | 239 | 2014 |
| ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 MA Zariwala, HY Gee, M Kurkowiak, DA Al-Mutairi, MW Leigh, TW Hurd, ... The American Journal of Human Genetics 93 (2), 336-345, 2013 | 226 | 2013 |
| ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 S Hoff, J Halbritter, D Epting, V Frank, TMT Nguyen, J Van Reeuwijk, ... Nature genetics 45 (8), 951-956, 2013 | 223 | 2013 |
| 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 | 191 | 2018 |
| Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms MR Knowles, LE Ostrowski, NT Loges, T Hurd, MW Leigh, L Huang, ... The American Journal of Human Genetics 93 (4), 711-720, 2013 | 173 | 2013 |
| 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 | 145 | 2016 |
| DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling M Schueler, DA Braun, G Chandrasekar, HY Gee, TD Klasson, J Halbritter, ... The American Journal of Human Genetics 96 (1), 81-92, 2015 | 143 | 2015 |
| High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation … J Halbritter, K Diaz, M Chaki, JD Porath, B Tarrier, C Fu, JL Innis, SJ Allen, ... Journal of medical genetics 49 (12), 756-767, 2012 | 142 | 2012 |
| Mutations of CEP83 cause infantile nephronophthisis and intellectual disability M Failler, HY Gee, P Krug, K Joo, J Halbritter, L Belkacem, E Filhol, ... The American Journal of Human Genetics 94 (6), 905-914, 2014 | 135 | 2014 |
| FAT1 mutations cause a glomerulotubular nephropathy HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ... Nature communications 7 (1), 10822, 2016 | 129 | 2016 |
| TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone EC Roberson, WE Dowdle, A Ozanturk, FR Garcia-Gonzalo, C Li, ... Journal of Cell Biology 209 (1), 129-142, 2015 | 120 | 2015 |
| 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 | 110 | 2016 |
| Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization AA Bizet, A Becker-Heck, R Ryan, K Weber, E Filhol, P Krug, J Halbritter, ... Nature communications 6 (1), 8666, 2015 | 107 | 2015 |
| Mutations in CSPP1 lead to classical Joubert syndrome N Akizu, JL Silhavy, RO Rosti, E Scott, AG Fenstermaker, J Schroth, ... The American Journal of Human Genetics 94 (1), 80-86, 2014 | 98 | 2014 |
| Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype TW Hurd, EA Otto, E Mishima, HY Gee, H Inoue, M Inazu, H Yamada, ... Journal of the American Society of Nephrology 24 (6), 967-977, 2013 | 92 | 2013 |
John SayerProfessor of Renal MedicineVerified email at ncl.ac.uk
