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The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.

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Title: The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.
Authors: Kotch C; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA. kotchc@chop.edu.; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. kotchc@chop.edu., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Schatz KS; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Dombi E; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA., Brown S; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA., Gross AM; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA., Alves M; Division of Child Neurology, Sainte-Justine's University Health Center, Montreal, QC, Canada., Perreault S; Division of Child Neurology, Sainte-Justine's University Health Center, Montreal, QC, Canada., Mueller S; Departments of Neurology, Neurosurgery and Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Department of Pediatrics, University of Zurich, Zurich, Switzerland., Reddy AT; Departments of Neurology, Neurosurgery and Pediatrics, University of California San Francisco, San Francisco, CA, USA., Romo C; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA., Bornhorst M; Center for Cancer & Blood Disorders, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Tonsgard J; University of Chicago, Chicago, IL, USA., Weiss BD; Division of Oncology, Cancer and Blood Disease Institute, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH, USA., Widemann B; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA., Fisher MJ; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA.; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Source: Human genetics [Hum Genet] 2025 Dec; Vol. 144 (11-12), pp. 1199-1206. Date of Electronic Publication: 2025 Oct 15.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Kotch+C%22">Kotch C</searchLink>; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA. kotchc@chop.edu.; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. kotchc@chop.edu.<br /><searchLink fieldCode="AU" term="%22Gomes+A%22">Gomes A</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Schatz+KS%22">Schatz KS</searchLink>; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Dombi+E%22">Dombi E</searchLink>; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Brown+S%22">Brown S</searchLink>; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA.<br /><searchLink fieldCode="AU" term="%22Gross+AM%22">Gross AM</searchLink>; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Alves+M%22">Alves M</searchLink>; Division of Child Neurology, Sainte-Justine's University Health Center, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Perreault+S%22">Perreault S</searchLink>; Division of Child Neurology, Sainte-Justine's University Health Center, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Mueller+S%22">Mueller S</searchLink>; Departments of Neurology, Neurosurgery and Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Department of Pediatrics, University of Zurich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Reddy+AT%22">Reddy AT</searchLink>; Departments of Neurology, Neurosurgery and Pediatrics, University of California San Francisco, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Romo+C%22">Romo C</searchLink>; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Bornhorst+M%22">Bornhorst M</searchLink>; Center for Cancer & Blood Disorders, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Tonsgard+J%22">Tonsgard J</searchLink>; University of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Weiss+BD%22">Weiss BD</searchLink>; Division of Oncology, Cancer and Blood Disease Institute, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH, USA.<br /><searchLink fieldCode="AU" term="%22Widemann+B%22">Widemann B</searchLink>; Pediatric Oncology Branch, National Cancer Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Fisher+MJ%22">Fisher MJ</searchLink>; Division of Oncology, Children's Hospital of Philadelphia, 3500 Civic Center Blvd, Philadelphia, PA, 19104, USA.; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
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              Text: 2025 Dec
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