M. Chaki

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Aliases
M. Chaki, Moumita Chaki
Publication record
53 papers · 3,847 citations · H-index 28

PAPERS

Barriers to gBRCA Testing in High-Risk HER2-Negative Early Breast Cancer
20233 citationsauthor #6
Explorer FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair
20170 citationsauthor #6
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.
201623 citationsauthor #2
Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease.
201639 citationsauthor #7
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
201441 citationsauthor #8
FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair
201317 citationsauthor #6
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
2013227 citationsauthor #6
Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
201376 citationsauthor #5
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
2013142 citationsauthor #27
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
2013195 citationsauthor #9
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.
2013191 citationsauthor #16
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
2012226 citationsauthor #6
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing
2012117 citationsauthor #3
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
2012386 citationsauthor #1
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
2011125 citationsauthor #1
Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion
201129 citationsauthor #3
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
2011373 citationsauthor #3
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
201153 citationsauthor #1
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
2010124 citationsauthor #29
Comprehensive analysis of the molecular bases of OCA in Indians
20101 citationsauthor #3
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
2010147 citationsauthor #4
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)
20101 citationsauthor #26
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
2010330 citationsauthor #4
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene
201017 citationsauthor #5
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies
200932 citationsauthor #8
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
200976 citationsauthor #10
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
2009134 citationsauthor #5
Genetic landscape of the people of India: a canvas for disease gene exploration
2008283 citationsauthor #116
Gene symbol: SLC45A2.
20070 citationsauthor #2
Molecular Genetic Studies on Oculocutaneous Albinism (OCA) with Special Reference to Tyrosinase – the Causal Gene for OCA type 1
20070 citationsauthor #1
Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
20070 citationsauthor #2
Novel human pathological mutations. Gene symbol: TYR. Disease: tyrosinase deficiency.
20070 citationsauthor #2
Gene symbol: SLC45A2.
20070 citationsauthor #2
Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1.
200791 citationsauthor #2
Novel human pathological mutations. Gene symbol: TYR. Disease: tyrosinase deficiency.
20070 citationsauthor #2
Gene symbol: SLC45A2.
20070 citationsauthor #2
SLC45A2 variations in Indian oculocutaneous albinism patients.
200732 citationsauthor #2
Novel human pathological mutations. Gene symbol: TYR. Disease: tyrosinase deficiency.
20071 citationsauthor #2
Gene symbol: SLC45A2.
20070 citationsauthor #2
Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
20060 citationsauthor #2
OCA1 in Different Ethnic Groups of India is Primarily Due to Founder Mutations in the Tyrosinase Gene
200632 citationsauthor #1
The Indian Genome Variation database (IGVdb): a project overview
2005144 citationsauthor #89
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
20050 citationsauthor #2
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
200528 citationsauthor #1
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
20050 citationsauthor #2
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
20052 citationsauthor #2
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
20050 citationsauthor #2
Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
20050 citationsauthor #2
Consortium IGVThe Indian Genome Variation database (IGVdb): a project overview. Hum Genet 118:1-11
200536 citationsauthor #87
Determination of variants in the 3′‐region of the Tyrosinase gene requires locus specific amplification
200530 citationsauthor #1
Contents Vol. 104, 2004
20040 citationsauthor #197
Chromosomal aberrations in arsenic-exposed human populations: a review with special reference to a comprehensive study in West Bengal, India
200445 citationsauthor #2
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia Ciliary Dyskinesia
year unknown0 citationsauthor #17

TIMELINE

2004 45 citations

2005 240 citations

2006 32 citations

2007 124 citations

2008 283 citations

2009 242 citations

2010 620 citations

2011 580 citations

2012 729 citations

2013 848 citations

2014 41 citations

2016 62 citations

2017 0 citations

2023 3 citations

Unknown 0 citations

M. Chaki

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