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exaly
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Department of Medical Genetics
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top-articles
Department of Medical Genetics
18
(top 2%)
papers
258
(top 5%)
citations
8
(top 5%)
h
-index
17
(top 2%)
g
-index
19
all documents
283
doc citations
142
citing journals
Top Articles
#
Title
Journal
Year
Citations
1
Analysis of the
WISP3
gene in Indian families with progressive pseudorheumatoid dysplasia
American Journal of Medical Genetics, Part A
2012
63
2
A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
PLoS ONE
2013
61
3
GALNS
mutations in Indian patients with mucopolysaccharidosis IVA
American Journal of Medical Genetics, Part A
2014
31
4
Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy
American Journal of Medical Genetics, Part A
2016
31
5
Recurrent and novel GLB1 mutations in India
Gene
2015
22
6
Novel and recurrent mutations in
WISP3
and an atypical phenotype
American Journal of Medical Genetics, Part A
2015
21
7
Spectrum of
SMPD1
mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease
American Journal of Medical Genetics, Part A
2016
15
8
Association of
ACE
and
MDR1
Gene Polymorphisms with Steroid Resistance in Children with Idiopathic Nephrotic Syndrome
Genetic Testing and Molecular Biomarkers
2015
9
9
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children
Clinical and Experimental Nephrology
2017
7
10
Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)
Indian Journal of Medical Research
2016
5
11
Crossed polydactyly and Greig cephalopolysyndactyly syndrome
Indian Pediatrics
2013
4
12
Genetic disorders with heterotopic ossificans
Indian Journal of Orthopaedics
2015
3
13
Class II Analphoid Chromosome in a Child with Aberrant Chromosome 7: A Rare Cytogenetic Association
Cytogenetic and Genome Research
2015
3
14
Novel variations in NPHS1 gene in children of South Indian population and its association with primary nephrotic syndrome
Journal of Cellular Biochemistry
2018
2
15
Application of Fluorescence in situ Hybridization (FISH) Technique to Discern Complete/Partial Monosomy 21
International Journal of Human Genetics
2011
1
16
Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association
Indian Journal of Human Genetics
2011
1
17
Lethal Restrictive Dermopathy with
ZMPSTE24
Mutation
Pediatric and Developmental Pathology
2022
1
18
A de novo marker chromosome 15 in a child with isolated developmental delay
Journal of Genetics
2020
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