Shruti Pande

Employment

• Kasturba Medical College Research Scholar
  2019 - 2023

Education

• Shri Sharad Pawar Dental College and Hospital Bachelor of Dental Surgery
  2013 - 2018

Projects & Funding

Projects & funding information is unavailable.

Publications (6)

• Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
  European Journal of Human Genetics 2026 DOI: 10.1038/s41431-026-02158-y
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• Complex Genomic Rearrangement Involving the TBX4 Promoter Manifesting With Variable Expressivity in a Five‐Generation Family
  Human Mutation 2026 DOI: 10.1155/humu/7278477
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• De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
  European Journal of Human Genetics 2024 DOI: 10.1038/s41431-023-01513-7
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• Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy
  American Journal of Medical Genetics Part A 2023 DOI: 10.1002/ajmg.a.63330
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• Nuclear proteostasis imbalance in laminopathy‐associated premature aging diseases
  The FASEB Journal 2023 DOI: 10.1096/fj.202300878R
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• The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging
  Aging Cell 2022 DOI: 10.1111/acel.13688
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