ANJALI AGGARWAL

Employment

• University of Minnesota Faculty, Assistant Professor
  2019 - 2026
• University of Minnesota Faculty, Associate Professor
  2019 - 2019

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (17)

• An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure
  Human Genetics and Genomics Advances 2025 DOI: 10.1016/j.xhgg.2024.100386
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• Successful Simultaneous Heart-Kidney Transplant in a Patient With MT-TL1 MELAS Cardiomyopathy
  JACC: Case Reports 2024 DOI: 10.1016/j.jaccas.2024.102523
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• Intracranial MRI Findings in a Patient with FBXO11-Related Disorder
  Journal of Pediatric Neurology 2023 DOI: 10.1055/s-0043-1772491
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• Ophthalmic Findings Associated with NEDD4L-related Disorder
  Journal of AAPOS 2022 DOI: 10.1016/j.jaapos.2022.02.012
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• MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features
  American Journal of Medical Genetics Part A 2022 DOI: 10.1002/ajmg.a.62756
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• Third reported patient with RAP1B‐related syndromic thrombocytopenia and novel clinical findings
  American Journal of Medical Genetics Part A 2022 DOI: 10.1002/ajmg.a.62760
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• Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
  European Journal of Medical Genetics 2022 DOI: 10.1016/j.ejmg.2022.104607
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• Phenotype-autosomal recessive osteopetrosis
  Bone 2022 DOI: 10.1016/j.bone.2022.116577
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• Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
  Molecular Genetics and Metabolism Reports 2022 DOI: 10.1016/j.ymgmr.2022.100931
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• Bone Health in Adults with Phenylketonuria
  Journal of Inborn Errors of Metabolism and Screening 2021 DOI: 10.1590/2326-4594-JIEMS-2021-0017
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