Collection
Chromatinopathies
- Submission status
- Closed
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Editors
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Bianca Russell, MD, University of California, USA
Assistant Clinical Professor
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Wen-Hann Tan, MD, Boston Children's Hospital, USA
Associate Professor of Pediatrics Harvard Medical School
Articles (9 in this collection)
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Functional categorization of gene regulatory variants that cause Mendelian conditions
Authors
- Y. H. Hank Cheng
- Stephanie C. Bohaczuk
- Andrew B. Stergachis
- Content type: Review
- Open Access
- Published: 04 March 2024
- Pages: 559 - 605
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The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Authors
- Aileen A. Nava
- Valerie A. Arboleda
- Content type: Review
- Open Access
- Published: 28 April 2023
- Pages: 475 - 495
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H2A monoubiquitination: insights from human genetics and animal models
Authors (first, second and last of 5)
- Charles W. Ryan
- Emily R. Peirent
- Stephanie L. Bielas
- Content type: Review
- Published: 22 April 2023
- Pages: 511 - 527
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DNA methylation signatures for chromatinopathies: current challenges and future applications
Authors (first, second and last of 4)
- Zain Awamleh
- Sarah Goodman
- Rosanna Weksberg
- Content type: Perspective
- Open Access
- Published: 06 April 2023
- Pages: 551 - 557
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Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Authors (first, second and last of 6)
- Jacqueline R. Harris
- Christine W. Gao
- Jill A. Fahrner
- Content type: Original Investigation
- Published: 23 March 2023
- Pages: 607 - 624
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Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Authors
- Kelly E. Regan-Fendt
- Kosuke Izumi
- Content type: Review
- Published: 16 March 2023
- Pages: 529 - 544
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Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species
Authors (first, second and last of 4)
- Laura Bryant
- Annabel Sangree
- Elizabeth Bhoj
- Content type: Review
- Published: 03 March 2023
- Pages: 497 - 510
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Interpreting variants in genes affected by clonal hematopoiesis in population data
Authors
- Sanna Gudmundsson
- Colleen M. Carlston
- Anne O’Donnell-Luria
- Content type: Review
- Published: 04 February 2023
- Pages: 545 - 549