| 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, 2011 | 435 | 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 | 413 | 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 | 379 | 2010 |
| Genetic landscape of the people of India: a canvas for disease gene exploration SK Brahmachari, PP Majumder, M Mukerji, S Habib, D Dash, K Ray, ... Journal of genetics 87 (1), 3-20, 2008 | 324* | 2008 |
| 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 | 261 | 2012 |
| 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 | 248 | 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 | 231 | 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 | 211 | 2013 |
| EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda S Aggarwal, S Negi, P Jha, PK Singh, T Stobdan, MAQ Pasha, S Ghosh, ... Proceedings of the National Academy of Sciences 107 (44), 18961-18966, 2010 | 197 | 2010 |
| 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 | 162 | 2011 |
| Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) EA Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, EL Wise, ... Journal of medical genetics 46 (10), 663-670, 2009 | 162 | 2009 |
| 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 | 156 | 2013 |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy JF O’Toole, Y Liu, EE Davis, CJ Westlake, M Attanasio, EA Otto, D Seelow, ... The Journal of clinical investigation 120 (3), 791, 2010 | 150 | 2010 |
| The Indian genome variation database (IGVdb): a project overview H Genet Hum Genet, 1-11, 2005 | 146 | 2005 |
| 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 |
| Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies M Chaki, J Hoefele, SJ Allen, G Ramaswami, S Janssen, C Bergmann, ... Kidney international 80 (11), 1239-1245, 2011 | 135 | 2011 |
| A novel chromosome 19p13. 12 deletion in a child with multiple congenital anomalies DR Jensen, DM Martin, S Gebarski, T Sahoo, EK Brundage, AC Chinault, ... American Journal of Medical Genetics Part A 149 (3), 396-402, 2009 | 117 | 2009 |
| Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1 K Ray, M Chaki, M Sengupta Progress in retinal and eye research 26 (4), 323-358, 2007 | 110 | 2007 |
| Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping HM Harville, S Held, A Diaz-Font, EE Davis, BH Diplas, RA Lewis, ... Journal of medical genetics 47 (4), 262-267, 2010 | 94 | 2010 |
| 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 |
