Researcher profile · Semantic Scholar

S. Bijarnia

h-index: 11
Works: 30
Citations: 484

Most-cited papers

The Burden of Genetic Disorders in India and a Framework for Community Control
I. Verma, S. Bijarnia
2002Public Health Genomics95 citations
Semantic Scholar
Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test
S. Bijarnia, B. Wilcken, V. Wiley
2011Journal of Inherited Metabolic Disease70 citations
Semantic Scholar
Glutaric aciduria type I: outcome following detection by newborn screening
S. Bijarnia, V. Wiley, K. Carpenter, J. Christodoulou +2 more
2008Journal of Inherited Metabolic Disease63 citations
Semantic Scholar
Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital
I. Verma, R. Saxena, M. Lall, S. Bijarnia +1 more
2003Indian Journal of Pediatrics41 citations
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Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders
Jyotsna Verma, Divya C. Thomas, Sandeepika Sharma, Geetu Jhingan +5 more
2015Prenatal Diagnosis32 citations Open access
Semantic Scholar
Mutation Analysis of the CFTR Gene in 225 Children: Identification of Five Novel Severe and Seven Reported Severe Mutations
K. Sachdeva, R. Saxena, R. Puri, S. Bijarnia +2 more
2012Genetic Testing and Molecular Biomarkers22 citations
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Tyrosinemia type I—Diagnostic issues and prenatal diagnosis
S. Bijarnia, R. Puri, J. Ruel, G. Gray +2 more
2006Indian Journal of Pediatrics21 citations
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Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
M. Kehar, S. Bijarnia, S. Ellard, J. Houghton +3 more
2014Indian Journal of Pediatrics19 citations Open access
Semantic Scholar
Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome
S. Bijarnia, Peter Shaw, A. Vimpani, Robert L. Smith +4 more
2009Journal of Paediatrics and Child Health14 citations
Semantic Scholar
Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia
N. Sambuughin, Xinyue Liu, S. Bijarnia, T. Wallace +5 more
2013Journal of Human Genetics13 citations
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Leber's hereditary optic neuropathy with molecular characterization in two Indian families.
I. Verma, S. Bijarnia, R. Saxena, S. Kohli +5 more
2005Indian Journal of Ophthalmology12 citations Open access
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Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian Subcontinent
S. Bijarnia, S. Kohli, R. Puri, Rintu J Jacob +5 more
2012Indian Journal of Pediatrics11 citations
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Using Noninvasive Prenatal Testing for Aneuploidies in a Developing Country: Lessons Learnt
Pratima Dash, R. Puri, Udhaya H. Kotecha, S. Bijarnia +2 more
2014Journal of Fetal Medicine10 citations Open access
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Acute brucellosis of childhood: a case report with unusual features.
A. Sachdev, R. Vohra, S. Bijarnia
2001Indian Pediatrics10 citations
Semantic Scholar
Screening for Inborn Errors of Metabolism
I. Verma, S. Bijarnia, Ratna D Purl
2005Journal of Neonatology9 citations
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Genetic counseling in acrocallosal syndrome
S. Bijarnia, A. Baijal, I. Verma
2003Indian Journal of Pediatrics9 citations
Semantic Scholar
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, M. Kamate +38 more
2024Human Genomics6 citations Open access
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Inborn Errors of Metabolism in the Neonatal Period – Is it Time to Change our Practice?
I. Verma, S. Bijarnia
2012Indian Journal of Pediatrics5 citations
Semantic Scholar
Mutation studies in X-linked myotubular myopathy in three Indian families
S. Bijarnia, R. Puri, Monika Jain, N. Kler +4 more
2010Indian Journal of Pediatrics5 citations
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Molecular characterization of supernumerary marker chromosomes found as unexpected chromosome abnormalities in nine prenatal and nine postnatal samples
M. Lall, Anju Joshi, S. Agarwal, P. Paliwal +5 more
2019Obstetrics & Gynecology International Journal4 citations Open access
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Current Status of Noninvasive Prenatal Testing and Counselling Considerations: An Indian Perspective
J. D. Massa, V. Arora, M. Lallar, S. Bijarnia +2 more
2019Journal of Fetal Medicine4 citations Open access
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Absent/Hypoplastic Fetal Nasal Bone and Its Association with Aneuploidies
Pratima Dash, R. Puri, Manisha Goyal, S. Bijarnia +3 more
2015Journal of Fetal Medicine4 citations Open access
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Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
V. Arora, S. Aggarwal, S. Bijarnia, M. Lall +4 more
2018Molecular Syndromology3 citations Open access
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Evaluating the Utility of Next Generation Sequencing Technology in the Diagnosis and Prevention of Genetic Disorders in India, the Early Experiences
Udhaya H. Kotecha, R. Puri, S. Bijarnia, S. Kohli +2 more
2019Journal of Fetal Medicine1 citations Open access
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Gerodermia Osteodysplastica.
R. Paul, S. Kapoor, R. Puri, S. Bijarnia
2004Indian Journal of Pediatrics1 citations
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Table of Contents, Volume 182A, Number 5, May 2020
V. Arora, R. Puri, S. Bijarnia, Mahay +52 more
2020American Journal of Medical Genetics. Part A0 citations Open access
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Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene
M. Kehar, S. Bijarnia, S. Ellard, J. Houghton +3 more
2016Indian Journal of Pediatrics0 citations Open access
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Recurrence of Esophageal Atresia with Tracheoesophageal Fistula in Consequent Pregnancy with Co-existence of Defect in Twins
B. Lyngdoh, S. Lal, A. Kriplani, Meenakshi Sharma +5 more
20060 citations
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Triple A syndrome — diagnostic and management issues
S. Bijarnia, I. C. Venna
2003Indian Journal of Pediatrics0 citations
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Public Health Genomics: Author Index and Subject Index
I. Verma, S. Bijarnia, N. K. Mehra, G. Kaur +33 more
2002Public Health Genomics0 citations Open access
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S. Kohli

×5

Udhaya H. Kotecha×3

V. Arora×3

B. Wilcken×2

V. Wiley×2

J. Christodoulou×2

R. Puri×2

I. Verma×2