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Peer-reviewedCC BYGenes

NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype–Phenotype Analysis of 7 Cases

  • Brett J. Hoskins1
  • Tiziano Pramparo2
  • Shannon M. Vandriel2
  • Chaowapong Jarasvaraparn1
  • Michael J. Wilsey3
  • Voytek Slowik4
  • Lakshmi Kunam4
  • Janis M. Stoll5
  • Ruben E. Quiros-Tejeira6
  • Simon Lam7
  • Wikrom Karnsakul8
8 affiliations
  1. 1Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Riley Hospital for Children, , Indianapolis, IN 46202, USA;
  2. 2Mirum Pharmaceuticals, Inc., Foster City, CA 94404, USA; (T.P.); (S.M.V.)
  3. 3Department of Gastroenterology, , St. Petersburg, FL 33701, USA;
  4. 4Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Mercy—Kansas City, Kansas City, MO 64108, USA; (V.S.); (L.K.)
  5. 5Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, , St. Louis, MO 63110, USA;
  6. 6Division of Pediatric Gastroenterology, Hepatology and Nutrition, , Omaha, NE 68198, USA;
  7. 7Department of Pediatrics, Cumming School of Medicine, , Calgary, AB T2N 4N1, Canada;
  8. 8Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The School of Medicine, Baltimore, MD 21205, USA;
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Cite

BibTeXRIS
BibTeX
@article{hoskins2026notch2,
  title = {{NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype–Phenotype Analysis of 7 Cases}},
  author = {Brett J. Hoskins and Tiziano Pramparo and Shannon M. Vandriel and Chaowapong Jarasvaraparn and Michael J. Wilsey and Voytek Slowik and Lakshmi Kunam and Janis M. Stoll and Ruben E. Quiros-Tejeira and Simon Lam and Wikrom Karnsakul},
  journal = {Genes},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13704217},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - NOTCH2 VUS Interpretation in Pediatric Cholestasis: A 365-Variant Landscape and Genotype–Phenotype Analysis of 7 Cases
AU  - Brett J. Hoskins
AU  - Tiziano Pramparo
AU  - Shannon M. Vandriel
AU  - Chaowapong Jarasvaraparn
AU  - Michael J. Wilsey
AU  - Voytek Slowik
AU  - Lakshmi Kunam
AU  - Janis M. Stoll
AU  - Ruben E. Quiros-Tejeira
AU  - Simon Lam
AU  - Wikrom Karnsakul
PY  - 2026
DA  - 2026/10/01
JO  - Genes
UR  - https://europepmc.org/article/PMC/PMC13704217
SN  - 2073-4425
ER  -