Volume 143, Issue 4 | Human Genetics

Search all Human Genetics articles

Volume 143, Issue 4

April 2024

Special Issue: Chromatinopathies

Issue Editors:

Bianca Russell,
Wen-Hann Tan

9 articles in this issue

Chromatinopathies – from discovery to clinical diagnosis in the real world
Bianca E. Russell
Wen-Hann Tan
Editorial 26 April 2024 Pages: 471 - 473
Part of 1 collection:

Chromatinopathies
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Aileen A. Nava
Valerie A. Arboleda
Review Open access 28 April 2023 Pages: 475 - 495
Part of 2 collections:

Chromatinopathies

Chromatinopathies
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species
Laura Bryant
Annabel Sangree
Elizabeth Bhoj
Review 03 March 2023 Pages: 497 - 510
Part of 2 collections:

Chromatinopathies

Chromatinopathies
H2A monoubiquitination: insights from human genetics and animal models
Charles W. Ryan
Emily R. Peirent
Stephanie L. Bielas
Review 22 April 2023 Pages: 511 - 527
Part of 2 collections:

Chromatinopathies

Chromatinopathies
Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins
Kelly E. Regan-Fendt
Kosuke Izumi
Review 16 March 2023 Pages: 529 - 544
Part of 2 collections:

Chromatinopathies

Chromatinopathies
Interpreting variants in genes affected by clonal hematopoiesis in population data
Sanna Gudmundsson
Colleen M. Carlston
Anne O’Donnell-Luria
Review 04 February 2023 Pages: 545 - 549
Part of 2 collections:

Chromatinopathies

Chromatinopathies
DNA methylation signatures for chromatinopathies: current challenges and future applications
Zain Awamleh
Sarah Goodman
Rosanna Weksberg
Perspective Open access 06 April 2023 Pages: 551 - 557
Part of 2 collections:

Chromatinopathies

Chromatinopathies
Functional categorization of gene regulatory variants that cause Mendelian conditions
Y. H. Hank Cheng
Stephanie C. Bohaczuk
Andrew B. Stergachis
Review Open access 04 March 2024 Pages: 559 - 605
Part of 2 collections:

Chromatinopathies

Chromatinopathies
Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
Jacqueline R. Harris
Christine W. Gao
Jill A. Fahrner
Original Investigation 23 March 2023 Pages: 607 - 624
Part of 2 collections:

Chromatinopathies

Chromatinopathies