Sourabh kumar

Employment

• Metropolis Healthcare Senior Scientific Officer
  2025 - Present
• All India Institute of Medical Sciences Research Scientist
  2024 - 2025
• Genomiki Solutions Bioinformatics Engineer
  2022 - 2024

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (9)

• FREM2 as a candidate gene for posterior urethral valves: Evidence from a case-parent cohort
  Journal of Pediatric Urology 2026 DOI: 10.1016/j.jpurol.2026.105880
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• Novel CTNNB1 gene mutations reveal critical pathogenic mechanisms in pediatric hepatoblastoma
  Pediatric Surgery International 2025 DOI: 10.1007/s00383-025-06116-5
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• Chromosomal Microarray Analysis in Spina Bifida: Genetic Heterogeneity and Its Clinical Implications.
  Journal of Indian Association of Pediatric Surgeons 2025 DOI: 10.4103/jiaps.jiaps_217_24
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• Genetic Markers of Spina Bifida: Enrichment of Pathogenic Variants and Variants of Uncertain Significance.
  Journal of Indian Association of Pediatric Surgeons 2025 DOI: 10.4103/jiaps.jiaps_193_24
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• KMT2C Polymorphism in Familial Hypospadias.
  Indian journal of pediatrics 2025 DOI: 10.1007/s12098-024-05384-8
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• Deep Genomics: Deep Learning-Based Analysis of Genome-Sequenced Data for Identification of Gene Alterations.
  Methods in molecular biology (Clifton, N.J.) 2025 DOI: 10.1007/978-1-0716-4690-8_20
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• Genetic landscape of congenital pouch colon: systematic review and functional enrichment study.
  Pediatric surgery international 2024 DOI: 10.1007/s00383-024-05878-8
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• Exploring Familial Hypospadias: Genetic Insights from Copy Number Variants in a Quad Family
  2024 DOI: 10.21203/rs.3.rs-4843906/v1
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• Genetic Markers of Spina Bifida in an Indian Cohort
  Journal of Indian Association of Pediatric Surgeons 2024 DOI: 10.4103/jiaps.jiaps_64_24
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