|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
|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
|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
|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
|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
|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 (8), 865-884, 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
|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
|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
|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
|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
|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
|The Indian genome variation database (IGVdb): a project overview|
Hum Genet, 1-11, 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
|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
|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
|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
|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
|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
|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