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Shagun Aggarwal
Observed name:
S. Aggarwal
Institutions:
Nizam's Institute of Medical Sciences,
Government of India,
Centre for DNA Fingerprinting and Diagnostics
Observed institutions:
Nizam's Institute of Medical Sciences,
Sanjay Gandhi Post Graduate Institute of Medical Sciences,
Government of India,
National Institute of Medical Statistics,
Institute of Liver and Biliary Sciences,
Centre for DNA Fingerprinting and Diagnostics
show all 6
ORCID:
0000-0001-8738-9888
Observed ORCID:
0000-0001-8738-9888
OpenAlex ID:
A5021778115
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology
2022
·
Ferdinand Dhombres
, Patricia Morgan
, et al.
·
American Journal of Medical Genetics Part C Seminars in Medical Genetics
·
66
PDF
Preeclampsia in North Indian women: the contribution of genetic polymorphisms
2011
·
Shagun Aggarwal
, Nalini Dimri
, et al.
·
Journal of obstetrics and gynaecology research
·
49
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum
2016
·
Shagun Aggarwal
, Aneek Das Bhowmik
, et al.
·
American Journal of Medical Genetics Part A
·
41
Medical genetics and genomic medicine in India: current status and opportunities ahead
2015
·
Shagun Aggarwal
, Shubha R Phadke
·
Molecular Genetics & Genomic Medicine
·
41
PDF
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping
2019
·
Shagun Aggarwal
, Venugopal Satidevi Vineeth
, et al.
·
Prenatal Diagnosis
·
37
Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages
2010
·
Shagun Aggarwal
, Farah Parveen
, et al.
·
Reproductive BioMedicine Online
·
34
PDF
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype
2018
·
Karthik Tallapaka
, Vineeth Venugopal
, et al.
·
American Journal of Medical Genetics Part A
·
29
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
2023
·
Gillian V. Blayney
, Eoghan Laffan
, et al.
·
Prenatal Diagnosis
·
28
PDF
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
2016
·
A. Uttarilli
, P. Ranganath
, et al.
·
Clinical Genetics
·
28
Novel and recurrent mutations in WISP3 and an atypical phenotype
2015
·
Gandham SriLakshmi Bhavani
, Hitesh Shah
, et al.
·
American Journal of Medical Genetics Part A
·
27
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
2019
·
Dhanya Lakshmi Narayanan
, Divya Matta
, et al.
·
Journal of Human Genetics
·
26
Ghosal hematodiaphyseal dysplasia—a concise review including an illustrative patient
2014
·
Richa Arora
, Shagun Aggarwal
, et al.
·
Skeletal Radiology
·
26
Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children
2019
·
Dhanya Lakshmi Narayanan
, Prajnya Ranganath
, et al.
·
Indian Pediatrics
·
25
Recurrent and novel GLB1 mutations in India
2015
·
Abdul Mueed Bidchol
, Ashwin Dalal
, et al.
·
Gene
·
25
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.
2011
·
Shagun Aggarwal
, Worapoj Jinda
, et al.
·
PubMed Central
·
25
PDF
Exome Sequencing in 403 Indian Children with Neurodevelopmental Disorders: Diagnostic Yield, Utility and Challenges in a Resource-Limited Setting
2022
·
Rayabarapu Pranav Chand
, Wankhede Vinit
, et al.
·
European Journal of Medical Genetics
·
24
Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease
2016
·
Prajnya Ranganath
, Divya Matta
, et al.
·
American Journal of Medical Genetics Part A
·
22
PDF
Role of whole exome sequencing for unidentified genetic syndromes
2021
·
Shagun Aggarwal
·
Current Opinion in Obstetrics & Gynecology
·
20
Skeletal dysplasias with increased bone density: Evolution of molecular pathogenesis in the last century
2013
·
Shagun Aggarwal
·
Gene
·
19
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis
2021
·
Karen M. Knapp
, Bridget Fellows
, et al.
·
European Journal of Medical Genetics
·
18
Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature
2015
·
Shagun Aggarwal
, Ashish Bahal
, et al.
·
European Journal of Medical Genetics
·
18
Novel nonsense mutation of ABHD5 in Dorfman–Chanarin syndrome with unusual findings: A challenge for genotype–phenotype correlation
2012
·
Shagun Aggarwal
, Jaswinder Singh Maras
, et al.
·
European Journal of Medical Genetics
·
18
Recurrence of urorectal septum malformation sequence spectrum anomalies in siblings: Time to explore the genetics
2013
·
Shagun Aggarwal
, Shubha R. Phadke
·
American Journal of Medical Genetics Part A
·
17
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism
2018
·
Venugopal S. Vineeth
, Aneek Das Bhowmik
, et al.
·
Journal of Human Genetics
·
15
Late termination of pregnancy for fetal abnormalities: The perspective of Indian lay persons and medical practitioners
2011
·
Shubha R. Phadke
, Meenal Agarwal
, et al.
·
Prenatal Diagnosis
·
15
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Works count:
95
Citation count:
910
H-index:
19
I10-index:
33
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