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Asodu Sandeep Sarma

Observed names: Asodu S. Sarma, Sandeep Sarma Asodu
ORCID: 0000-0001-9960-9622
Observed ORCID: 0000-0001-9960-9622
OpenAlex ID: A5002202933
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
2026 · Mathieu Quinodoz, Kim Rodenburg, et al. · Nature Genetics · 36
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Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment
2020 · Kuldeep Shetty, Asodu Sandeep Sarma, et al. · Journal of Movement Disorders · 21
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency
2021 · Dipti Deshpande, Shailesh Kumar Gupta, et al. · Human Mutation · 12
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
2023 · Jessica R.C. Priestley, Ashish R. Deshwar, et al. · Genetics in Medicine · 8
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A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
2024 · Maria Abu Elasal, Samer Khateb, et al. · Genes · 7
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A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81
2023 · Asodu Sandeep Sarma, Bathula Siddardha, et al. · The Journal of Gene Medicine · 5
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect
2019 · Pandiarajan Vignesh, Madhubala Sharma, et al. · Journal of Clinical Immunology · 5
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
2025 · Miriam Ehrenberg, Maayan Avraham, et al. · Genetics in Medicine · 4
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A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth–Lazarus syndrome
2022 · Asodu Sandeep Sarma, Lavanya Banda, et al. · European Journal of Medical Genetics · 4
DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
2024 · Alinoë Lavillaureix, Paul Rollier, et al. · Genetics in Medicine · 3
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The potential use of anti-codon engineered tRNAs (ACE-tRNAs) to treat nonsense variants causing inherited retinal diseases
2025 · Asodu Sandeep Sarma, Dror Sharon · Molecular Aspects of Medicine · 2
Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
2023 · Asodu Sandeep Sarma, Rohan Peter Mathew, et al. · European Journal of Medical Genetics · 2
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population
2024 · Asodu Sandeep Sarma, Ankush Desai, et al. · Hormone Research in Paediatrics · 1
A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans
2026 · Asodu Sandeep Sarma, Neta Barnoy, et al. · Clinical Genetics
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Single anticodon-edited tRNA therapy targeting highly prevalent Arg>Ter premature termination codons causing inherited retinal diseases
2026 · Asodu Sandeep Sarma, Alaa Saleh, et al. · bioRxiv (Cold Spring Harbor Laboratory)
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RNA editing of pathogenic variants causing inherited retinal diseases using endogenous ADAR-current and future perspectives
2026 · Manar Salameh, Nina Schneider, et al. · Molecular Aspects of Medicine
Works count: 16
Citation count: 110
H-index: 5
I10-index: 3
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