| Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397-1405, 2006 | 665 | 2006 |
| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness SF Heeringa, G Chernin, M Chaki, W Zhou, AJ Sloan, Z Ji, LX Xie, ... The Journal of clinical investigation 121 (5), 2013-2024, 2011 | 434 | 2011 |
| Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012 | 419 | 2012 |
| Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840-850, 2010 | 384 | 2010 |
| Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3 C Wiese, T Grieskamp, R Airik, MTM Mommersteeg, A Gardiwal, ... Circulation research 104 (3), 388-397, 2009 | 368 | 2009 |
| ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption S Ashraf, HY Gee, S Woerner, LX Xie, V Vega-Warner, S Lovric, H Fang, ... The Journal of clinical investigation 123 (12), 5179-5189, 2013 | 367 | 2013 |
| FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair W Zhou, EA Otto, A Cluckey, R Airik, TW Hurd, M Chaki, K Diaz, FP Lach, ... Nature genetics 44 (8), 910-915, 2012 | 268 | 2012 |
| 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 | 237 | 2013 |
| 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 | 234 | 2013 |
| 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 | 213 | 2013 |
| The Tbx2+ Primary Myocardium of the Atrioventricular Canal Forms the Atrioventricular Node and the Base of the Left Ventricle WTJ Aanhaanen, JF Brons, JN Domínguez, MS Rana, J Norden, R Airik, ... Circulation research 104 (11), 1267-1274, 2009 | 193 | 2009 |
| Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy EA Otto, G Ramaswami, S Janssen, M Chaki, SJ Allen, W Zhou, R Airik, ... Journal of medical genetics 48 (2), 105-116, 2011 | 167 | 2011 |
| Tbx18 regulates the development of the ureteral mesenchyme R Airik, M Bussen, MK Singh, M Petry, A Kispert The Journal of clinical investigation 116 (3), 663-674, 2006 | 167 | 2006 |
| 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 | 129 | 2015 |
| The prepattern transcription factor Irx3 directs nephron segment identity L Reggiani, D Raciti, R Airik, A Kispert, AW Brändli Genes & development 21 (18), 2358-2370, 2007 | 128 | 2007 |
| FAT1 mutations cause a glomerulotubular nephropathy HY Gee, CE Sadowski, PK Aggarwal, JD Porath, TA Yakulov, M Schueler, ... Nature communications 7 (1), 10822, 2016 | 121 | 2016 |
| Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals S Janssen, G Ramaswami, EE Davis, T Hurd, R Airik, JM Kasanuki, ... Human genetics 129, 79-90, 2011 | 116 | 2011 |
| Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis P Saisawat, V Tasic, V Vega-Warner, EO Kehinde, B Günther, R Airik, ... Kidney international 81 (2), 196-200, 2012 | 108 | 2012 |
| 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 | 101 | 2016 |
| Tbx18 expression demarcates multipotent precursor populations in the developing urogenital system but is exclusively required within the ureteric mesenchymal lineage to … T Bohnenpoll, E Bettenhausen, AC Weiss, AB Foik, MO Trowe, P Blank, ... Developmental biology 380 (1), 25-36, 2013 | 94 | 2013 |
