renu saxena

Employment

• Sir Ganga Ram Hospital SENIOR CONSULTANT, INCHARGE, MOLECULAR GENETICS
  1997 - Present
• All India Institute of Medical Sciences SCIENTIST, SENIOR SCIENTIST
  1990 - 1996

Education

• Osmania University MSc, PHd ( GENETICS)
  1978 - 1987

Projects & Funding

Projects & funding information is unavailable.

Publications (112)

• Experience of Prenatal Diagnosis for β-Thalassemia and Major Hemoglobinopathies in the Last Decade from Seven Tertiary-Care Referral Centers in India
  Indian Journal of Pediatrics 2026 DOI: 10.1007/s12098-026-06099-8
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• The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-023-01496-5
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• Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-024-01569-z
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• CEDNIK Syndrome – A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis
  Indian Journal of Pediatrics 2024 DOI: 10.1007/s12098-024-05086-1
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• Role of Next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
  2023 DOI: 10.21203/rs.3.rs-3220389/v1
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• COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum
  American Journal of Medical Genetics Part A 2022 DOI: 10.1002/ajmg.a.62768
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• Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy.
  Clinical dysmorphology 2021 DOI: 10.1097/mcd.0000000000000361
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• NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study
  BMC Medical Genetics 2020 DOI: 10.1186/s12881-020-01153-4
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• Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population
  Indian Journal of Gastroenterology 2020 DOI: 10.1007/s12664-020-01096-x
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• NGS based expanded pilot carrier screening study in North Indian population reveals unexpected results.
  2020 DOI: 10.21203/rs.3.rs-23712/v4
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