The DOI matches its Crossref record; 92 of the 92 references it cites were found in a registry or an index.
Mutation update on the CHD7 gene involved in CHARGE syndrome
Open accessAbstract
CHD7 is a member of the chromodomain helicase DNA-binding (CHD) protein family that plays a role in transcription regulation by chromatin remodeling. Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved. In this article, we review all the currently described CHD7 variants, including 183 new pathogenic mutations found by our laboratories. In total, we compiled 528 different pathogenic CHD7 alterations from 508 previously published patients with CHARGE syndrome and 294 unpublished patients analyzed by our laboratories. The mutations are equally distributed along the coding region of CHD7 and most are nonsense or frameshift mutations. Most mutations are unique, but we identified 94 recurrent mutations, predominantly arginine to stop codon mutations. We built a locus-specific database listing all the variants that is easily accessible at www.CHD7.org. In addition, we summarize the latest data on CHD7 expression studies, animal models, and functional studies, and we discuss the latest clinical insights into CHARGE syndrome.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
1 retracted
Takada, I., Mihara, M., Suzawa, M., Ohtake, F., Kobayashi, S., Igarashi, M., Youn, M.-Y., Takeyama, K.-I., Nakamura, T., Mezaki, Y., et al. (2007) · Nature Cell Biology · doi:10.1038/ncb1647 · Cited by 424
RetractedMutations in a new member of the chromodomain gene family cause CHARGE syndrome
Vissers, L. E. L. M., van Ravenswaaij, C. M. A., Admiraal, R., Hurst, J. A., de Vries, B. B. A., Janssen, I. M., van der Vliet, W. A., Huys, E. H. L. P. G., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,285
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
Pagon, R. A., Graham, J. M., Zonana, J., & Yong, S.-L. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80454-4 · Cited by 842
CHD7 cooperates with PBAF to control multipotent neural crest formation
Bajpai, R., Chen, D. A., Rada-Iglesias, A., Zhang, J., Xiong, Y., Helms, J., Chang, C.-P., Zhao, Y., Swigut, T., & Wysocka, J. (2010) · Nature · doi:10.1038/nature08733 · Cited by 616
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
Jongmans, M. C. J., Admiraal, R. J., van der Donk, K. P., Vissers, L. E. L. M., Baas, A. F., Kapusta, L., van Hagen, J. M., Donnai, D., de Ravel, T. J., Veltman, J. A., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036061 · Cited by 465
Self-citationCHARGE Association: An Update and Review for the Primary Pediatrician
Blake, K. D., Davenport, S. L. H., Hall, B. D., Hefner, M. A., Pagon, R. A., Williams, M. S., Lin, A. E., & Graham, J. M. (1998) · Clinical Pediatrics · doi:10.1177/000992289803700302 · Cited by 456
The Chd family of chromatin remodelers
Marfella, C. G. A., & Imbalzano, A. N. (2007) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2006.07.012 · Cited by 432
Lalani, S. R., Safiullah, A. M., Fernbach, S. D., Harutyunyan, K. G., Thaller, C., Peterson, L. E., McPherson, J. D., Gibbs, R. A., White, L. D., Hefner, M., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/500273 · Cited by 396
Updated diagnostic criteria for CHARGE syndrome: A proposal
Verloes, A. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30559 · Cited by 380
Kim, H.-G., Kurth, I., Lan, F., Meliciani, I., Wenzel, W., Eom, S. H., Kang, G. B., Rosenberger, G., Tekin, M., Ozata, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.005 · Cited by 338
Cited by
Clinical Management of Congenital Hypogonadotropic Hypogonadism
Young, J., Xu, C., Papadakis, G. E., Acierno, J. S., Maione, L., Hietamäki, J., Raivio, T., & Pitteloud, N. (2019) · Endocrine Reviews · doi:10.1210/er.2018-00116 · Cited by 396
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Balasubramanian, R., Choi, J.-H., Francescatto, L., Willer, J., Horton, E. R., Asimacopoulos, E. P., Stankovic, K. M., Plummer, L., Buck, C. L., Quinton, R., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1417438111 · Cited by 83
Williams, R. M., Taylor, G., Ling, I. T. C., Candido-Ferreira, I., Fountain, D. M., Mayes, S., Ateş-Kalkan, P. S., Haug, J. O., Price, A. J., McKinney, S. A., et al. (2024) · PLOS Biology · doi:10.1371/journal.pbio.3002786 · Cited by 12
Metadata
- Authors
- Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A., & Hoefsloot, L. H.
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2012-04-16
- Volume
- 33
- Issue
- 8
- Pages
- 1149-1160
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2045539393
- Cited by
- 261
- References
- 92
- FWCI
- 10.13
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Mutation update on the CHD7 gene involved in CHARGE syndrome. https://app.cochat.ai/papers/10.1002/humu.22086
- The paper
- Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A., & Hoefsloot, L. H. (2012). Mutation update on the CHD7 gene involved in CHARGE syndrome. Human Mutation. https://doi.org/10.1002/humu.22086
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
