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Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert, Melissa A; Keefer-Jacques, Ernest; Jadhav, Tanaya; Antfolk, Daniel; Ming, Qianqian; Valente, Nicolette; Shaw, Grace Tzun-Wen; Sottolano, Christopher J; Matwijec, Grace; Luca, Vincent C; Loomes, Kathleen M; Rajagopalan, Ramakrishnan; Hayeck, Tristan J; Spinner, Nancy B.
Affiliation
  • Gilbert MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA; Div
  • Keefer-Jacques E; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Jadhav T; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Antfolk D; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
  • Ming Q; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
  • Valente N; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Shaw GT; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Sottolano CJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Matwijec G; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Luca VC; Department of Immunology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA.
  • Loomes KM; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Rajagopalan R; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Hayeck TJ; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA 19104, USA.
Am J Hum Genet ; 111(8): 1656-1672, 2024 Aug 08.
Article in En | MEDLINE | ID: mdl-39043182
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alagille Syndrome / Mutation, Missense / Jagged-1 Protein Limits: Humans Language: En Journal: Am J Hum Genet Year: 2024 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alagille Syndrome / Mutation, Missense / Jagged-1 Protein Limits: Humans Language: En Journal: Am J Hum Genet Year: 2024 Document type: Article Country of publication: United States