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S. Kapoor · SciRah

Researcher profile · Semantic Scholar

S. Kapoor

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S. Kapoor — researcher profile on SciRah

h-index: 26
Works: 254
Citations: 2,499

Most-cited papers

Expanding the phenome and variome of skeletal dysplasia
S. Maddirevula, S. Alsahli, Lamees Alhabeeb, N. Patel +52 more
2018Genetics in Medicine71 citations Open access
Semantic Scholar
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F. Sekiguchi, Y. Tsurusaki, N. Okamoto, K. W. Teik +75 more
2019Journal of Human Genetics64 citations Open access
Semantic Scholar
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
J. Sheth, Riddhi Bhavsar, M. Mistri, Dhairya Pancholi +19 more
2019BMC Medical Genetics51 citations Open access
Semantic Scholar
Diagnosis and Management of Global Development Delay: Consensus Guidelines of Growth, Development and Behavioral Pediatrics Chapter, Neurology Chapter and Neurodevelopment Pediatrics Chapter of the Indian Academy of Pediatrics
M. Juneja, Arpita Gupta, Smitha Sairam, Ridhimaa Jain +26 more
2022Indian Pediatrics42 citations
Semantic Scholar
Mapping of the benzoate metabolism by human gut microbiome indicates food-derived metagenome evolution
Monika Yadav, A. Lomash, S. Kapoor, R. Pandey +1 more
2021Scientific Reports41 citations Open access
Semantic Scholar
Endocrinopathies in adolescents with thalassaemia major receiving oral iron chelation therapy
Rajni Sharma, A. Seth, J. Chandra, S. Gohain +3 more
2016Paediatrics and International Child Health37 citations
Semantic Scholar
Status of Newborn Screening and Inborn Errors of Metabolism in India
S. Kapoor, B. K. Thelma
2018Indian Journal of Pediatrics35 citations
Semantic Scholar
Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics
R. Puri, S. Kapoor, P. Kishnani, A. Dalal +7 more
2018Indian Pediatrics32 citations Open access
Semantic Scholar
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
A. Uttarilli, P. Ranganath, D. Matta, J. M. N. Jain +17 more
2016Clinical Genetics31 citations
Semantic Scholar
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
S. Elsea, A. Sólyom, Kirt Martin, P. Harmatz +20 more
2020Human Mutation21 citations Open access
Semantic Scholar
Role of melatonin mediated G-CSF induction in hematopoietic system of gamma-irradiated mice.
Arun Kumar, S. Choudhary, Somesh Kumar, J. Adhikari +2 more
2021Life Science17 citations
Semantic Scholar
Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia
Pallavi Vats, Aashima Dabas, V. Jain, A. Seth +10 more
2020Indian Pediatrics17 citations
Semantic Scholar
Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia
Francisca Díaz-González, Saruchi Wadhwa, Maria Rodriguez-Zabala, Somesh Kumar +15 more
2020Journal of Medical Genetics15 citations
Semantic Scholar
CAH Newborn Screening in India: Challenges and Opportunities
Aashima Dabas, Meenakshi Bothra, S. Kapoor
2020International Journal of Neonatal Screening15 citations Open access
Semantic Scholar
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
N. Agrawal, G. Verma, D. Saxena, M. Kabra +16 more
2022European Journal of Medical Genetics13 citations
Semantic Scholar
Split hand-foot malformation and a novel WNT10B mutation.
P. Kantaputra, S. Kapoor, P. Verma, W. Intachai +1 more
2018European Journal of Medical Genetics13 citations
Semantic Scholar
Testing Modalities for Inborn Errors of Metabolism — What a Clinician Needs to Know?
S. Bijarnia-Mahay, S. Kapoor
2019Indian Pediatrics12 citations
Semantic Scholar
Vitamin B12 Deficiency in Children With Infantile Spasms: A Case-Control Study
M. Meena, Suvasini Sharma, Himani Bhasin, P. Jain +3 more
2018Journal of Child Neurology12 citations
Semantic Scholar
Duchenne Muscular Dystrophy: Genetic and Clinical Profile in the Population of Rajasthan, India
Manisha Goyal, A. Gupta, K. Agarwal, S. Kapoor +1 more
2021Annals of Indian Academy of Neurology11 citations Open access
Semantic Scholar
Loes Score: Clinical and Radiological Profile of 22 Patients of X-Linked Adrenoleukodystrophy: Case Series from a Single Center
Somesh Kumar, Haseena Sait, S. Polipalli, G. Pradhan +2 more
2021Indian Journal of Radiology and Imaging11 citations Open access
Semantic Scholar
Management of Infants with Congenital Adrenal Hyperplasia
Aashima Dabas, Pallavi Vats, Rajni Sharma, Preeti Singh +8 more
2020Indian Pediatrics11 citations
Semantic Scholar
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis
Ankur Singh, R. Prasad, A. Gupta, Anil Sharma +4 more
2017Indian Journal of Pediatrics11 citations Open access
Semantic Scholar
Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
A. Patial, A. Saini, R. Kaur, S. Kapoor +11 more
2022Indian Journal of Pediatrics10 citations
Semantic Scholar
Phenotypic and genotypic spectrum of CTSK variants in a cohort of Twenty-Five Indian patients with Pycnodysostosis.
Haseena Sait, Priyanka Srivastava, N. Gupta, M. Kabra +9 more
2021European Journal of Medical Genetics10 citations
Semantic Scholar
Autism Spectrum Disorders and Celiac Disease: Is there an Association?
M. Juneja, Abhinaya Venkatakrishnan, S. Kapoor, R. Jain
2018Indian Pediatrics10 citations
Semantic Scholar
Is Omicron really mild? – Comparative analysis of comorbidities and disease outcomes associated with SARS-CoV-2 Omicron (B.1.1.529) and Delta (B.1.617.2) variants
V. Manchanda, Srestha Mitra, Iram Rafique, A. Sharma +4 more
2023Indian Journal of Medical Microbiology9 citations Open access
Semantic Scholar
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
P. Kantaputra, S. Kapoor, P. Verma, M. Kaewgahya +3 more
2017European Journal of Medical Genetics9 citations
Semantic Scholar
Evaluation of the Utility of Amino Acid Citrulline as a Surrogate Metabolomic Biomarker for the Diagnosis of Celiac Disease
A. Lomash, Anupa Prasad, Raghvendra Singh, Somesh Kumar +6 more
2021Nutrition and Metabolic Insights8 citations Open access
Semantic Scholar
Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population
Shruthi Sudarshan, Atin Kumar, Arun Gupta, N. Bhari +15 more
2020Journal of Pediatric Genetics8 citations Open access
Semantic Scholar
Assessment of Interleukin‐18 gene polymorphism and serum levels in oral lichen planus in an Indian population
Deepika Negi, A. Urs, Priya Kumar, Bhawna Mahajan +3 more
2019Journal of Oral Pathology & Medicine8 citations
Semantic Scholar
Genetic alteration of Exon 5 of the PTEN gene in Indian patients with ameloblastoma.
Bhaskar Narayan, A. Urs, J. Augustine, Hanspal Singh +3 more
2019Oral surgery, oral medicine, oral pathology and oral radiology7 citations
Semantic Scholar
An Optimal Capillary Screen Cut-off of Thyroid Stimulating Hormone for Diagnosing Congenital Hypothyroidism: Data from a Pilot Newborn Screening Program in Delhi
P. Verma, S. Kapoor, M. Kalaivani, Pallavi Vats +4 more
2019Indian Pediatrics7 citations
Semantic Scholar
Inborn Errors of Ketogenesis: Novel Variants, Clinical Presentation, and Follow-Up in a Series of Four Patients
Haseena Sait, Somya Srivastava, Somesh Kumar, B. Varughese +6 more
2021Journal of Pediatric Genetics6 citations Open access
Semantic Scholar
Diagnostic utility of serology and polymerase chain reaction for detection of Mycoplasma pneumoniae and Chlamydophila pneumoniae in paediatric community-acquired lower respiratory tract infections
Sanchit Kumar, Bineeta Kashyap, Surinder Kumar, S. Kapoor
2020Indian Journal of Medical Microbiology6 citations Open access
Semantic Scholar
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review
S. Grover, Aanchal Bhayana, H. Grover, S. Kapoor +1 more
2019Indian Journal of Radiology and Imaging6 citations Open access
Semantic Scholar
Consensus Statement of the Indian Academy of Pediatrics on Diagnosis and Management of Fragile X Syndrome in India
A. Sachdeva, Prachi Jain, V. Gunasekaran, Sunita Bijarnia Mahay +5 more
2019Indian Pediatrics6 citations
Semantic Scholar
Cardiovascular Disease Prognosis and Analysis Using Machine Learning Techniques
Anmol Kapoor, S. Kapoor, Kamal Upreti, Prashant Singh +3 more
2022ICACIS5 citations
Semantic Scholar
Identification of Essential, Equivocal and Complex Autism by the Autism Dysmorphology Measure: An Observational Study
S. Mukherjee, Neelam, S. Kapoor, Suvasini Sharma
2020Journal of Autism and Developmental Disorders5 citations
Semantic Scholar
Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a.
Sellamuthu Karthi, P. Manimaran, P. Varalakshmi, R. Ganesh +3 more
2019Gene5 citations
Semantic Scholar
Factors Associated with Transient Neonatal Hyperthyrotropinemia
Ritika Garg, Haseena Sait, A. Jindal, M. Juneja +3 more
2019Indian Journal of Pediatrics5 citations
Semantic Scholar
Clinicoradiologic follow up of cherubism with aggressive characteristics: a series of 3 cases.
Sunita Gupta, Khushboo Singh, A. Garg, P. Bhandari +5 more
2019Oral surgery, oral medicine, oral pathology and oral radiology5 citations
Semantic Scholar
Indian childhood cirrhosis – down but not out: Report of a rare case with a practical clinicopathological diagnostic approach
K. Gaur, P. Sakhuja, R. Mandal, S. Kapoor
2018Journal of Postgraduate Medicine5 citations Open access
Semantic Scholar
Research Letters
K. Jagadishkumar, Naresh Yerraguntla, Manjunath Gopalakrishna Vaddambal, M. Juneja +8 more
2018Indian Pediatrics4 citations
Semantic Scholar
Biotin supplementation in children with symptomatic profound biotinidase deficiency and their pregnant mothers
S. Mukherjee, R. Mishra, M. Gupta, A. Lomash +2 more
2022Indian Pediatrics Case Reports3 citations Open access
Semantic Scholar
Coeliac disease presenting atypically: A much wider spectrum
A. Lomash, Abhinaya Venkatakrishnan, Meenakshi Bothra, Bhavna Dhingra +2 more
2021Tropical doctor3 citations
Semantic Scholar
Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).
Manish Kumar, Saruchi Wadhwa, Nishu Tyagi, I. Ahmad +7 more
2021Stem Cell Research3 citations Open access
Semantic Scholar
STAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia
Aashima Dabas, P. Arora, Somesh Kumar, S. Kapoor +1 more
2021Pediatric Allergy and Immunology3 citations
Semantic Scholar
Dental phenotype of multiple impacted supernumerary teeth in Wiedemann–Steiner syndrome
Priyanka Verma, S. Kapoor, Haseena Sait, Sujoy Ghosh +1 more
20203 citations Open access
Semantic Scholar
Gingival manifestations of tuberculosis in pediatric patients: series of 4 cases.
Sunita Gupta, Puneet Vats, Abhishek Jha, Khushboo Singh +5 more
2019Oral surgery, oral medicine, oral pathology and oral radiology3 citations
Semantic Scholar
Utility of Detecting sof Gene as Evidence of Streptococcus pyogenes Infection in Acute Rheumatic Fever
Nikki Agarwal, S. Kapoor, Ankit Mangla, Ashok Kumar +3 more
2019Indian Pediatrics3 citations
Semantic Scholar

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S. Phadke×6
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M. Kabra×6
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M. Kabra — researcher profile on SciRah
N. Gupta×6
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Haseena Sait — researcher profile on SciRah

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K. Girisha — researcher profile on SciRah

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Manisha Goyal — researcher profile on SciRah

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A. Dalal — researcher profile on SciRah

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S. Danda — researcher profile on SciRah

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M. Juneja — researcher profile on SciRah

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A. Lomash — researcher profile on SciRah