Shagun Aggarwal

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Publications (18)

• Prenatal Diagnosis and Genomics in India – Historical Review, Current Status and Road Ahead
  Indian Journal of Pediatrics 2026 DOI: 10.1007/s12098-026-06239-0
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• 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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• Empowering Patients’ Knowledge, Attitude, and Practices in Low Resource Settings: A Study of Pictorial Tools for Pretest Counseling of Invasive Prenatal Diagnostic Procedures
  Prenatal Diagnosis 2025 DOI: 10.1002/pd.6795
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• Featured Cover
  Clinical Genetics 2024 DOI: 10.1111/cge.14607
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• SERPINA11 related novel serpinopathy – A perinatal lethal disorder
  Clinical Genetics 2024 DOI: 10.1111/cge.14564
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• Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!
  Fetal and Pediatric Pathology 2023 DOI: 10.1080/15513815.2022.2058660
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• Muscle spasms as presenting feature of Nivelon‐Nivelon‐Mabile syndrome
  American Journal of Medical Genetics Part A 2023 DOI: 10.1002/ajmg.a.63000
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• Fetal phenotypes of Mendelian disorders: A descriptive study from India
  Prenatal Diagnosis 2022 DOI: 10.1002/pd.6172
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• Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia
  Molecular Syndromology 2022 DOI: 10.1159/000522352
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• Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants
  American Journal of Medical Genetics Part A 2022 DOI: 10.1002/ajmg.a.62622
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