Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

Wang Q, Sobering AK, Tirrito C, Haghshenas S, Hjortshøj TD, Platzer K, Redler S, March ME, Matsuoka LS, Xi H, Zoodsma J, Chen Y, Mori M, Leung ML, Couque N, Verloes A, Pouzet A, Giesbertz NA, Simon ME, Yearwood AK, Assing DL, Hsieh TC, Li JM, Levy MA, Kerkhof J, McConkey H, Rzasa J, Lauzon-Young C, Sulaiman RA, Abdulwahab F, Shamseldin HE, Almontashiri NA, Afqi M, Vedanarayanan V, Guillen Sacoto MJ, Wentzensen IM, Damseh NS, Birnbaum R, van Ommeren B, Hopman SM, Zaki MS, Elmakkawy G, Afzal E, Kim J, Efthymiou S, Houlden H, Nusrat A, Toft M, Abdullah U, Iqbal Z, Terek S, Alkuraya FS, Bhoj EJ, Maroofian R, Sadikovic B, Hakonarson H, Song Y, Li D

Open source

DOI: 10.1172/jci198229
Published: 2026 Aug 3
Container: The Journal of clinical investigation
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer

Cite this work

BibTeX

@article{allodium:10.1172/jci198229,
  title = {Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.},
  author = {Wang Q and Sobering AK and Tirrito C and Haghshenas S and Hjortshøj TD and Platzer K and Redler S and March ME and Matsuoka LS and Xi H and Zoodsma J and Chen Y and Mori M and Leung ML and Couque N and Verloes A and Pouzet A and Giesbertz NA and Simon ME and Yearwood AK and Assing DL and Hsieh TC and Li JM and Levy MA and Kerkhof J and McConkey H and Rzasa J and Lauzon-Young C and Sulaiman RA and Abdulwahab F and Shamseldin HE and Almontashiri NA and Afqi M and Vedanarayanan V and Guillen Sacoto MJ and Wentzensen IM and Damseh NS and Birnbaum R and van Ommeren B and Hopman SM and Zaki MS and Elmakkawy G and Afzal E and Kim J and Efthymiou S and Houlden H and Nusrat A and Toft M and Abdullah U and Iqbal Z and Terek S and Alkuraya FS and Bhoj EJ and Maroofian R and Sadikovic B and Hakonarson H and Song Y and Li D},
  year = {2026},
  journal = {The Journal of clinical investigation},
  doi = {10.1172/jci198229},
  url = {https://doi.org/10.1172/jci198229}
}

RIS

TY  - JOUR
TI  - Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
AU  - Wang Q
AU  - Sobering AK
AU  - Tirrito C
AU  - Haghshenas S
AU  - Hjortshøj TD
AU  - Platzer K
AU  - Redler S
AU  - March ME
AU  - Matsuoka LS
AU  - Xi H
AU  - Zoodsma J
AU  - Chen Y
AU  - Mori M
AU  - Leung ML
AU  - Couque N
AU  - Verloes A
AU  - Pouzet A
AU  - Giesbertz NA
AU  - Simon ME
AU  - Yearwood AK
AU  - Assing DL
AU  - Hsieh TC
AU  - Li JM
AU  - Levy MA
AU  - Kerkhof J
AU  - McConkey H
AU  - Rzasa J
AU  - Lauzon-Young C
AU  - Sulaiman RA
AU  - Abdulwahab F
AU  - Shamseldin HE
AU  - Almontashiri NA
AU  - Afqi M
AU  - Vedanarayanan V
AU  - Guillen Sacoto MJ
AU  - Wentzensen IM
AU  - Damseh NS
AU  - Birnbaum R
AU  - van Ommeren B
AU  - Hopman SM
AU  - Zaki MS
AU  - Elmakkawy G
AU  - Afzal E
AU  - Kim J
AU  - Efthymiou S
AU  - Houlden H
AU  - Nusrat A
AU  - Toft M
AU  - Abdullah U
AU  - Iqbal Z
AU  - Terek S
AU  - Alkuraya FS
AU  - Bhoj EJ
AU  - Maroofian R
AU  - Sadikovic B
AU  - Hakonarson H
AU  - Song Y
AU  - Li D
PY  - 2026
JO  - The Journal of clinical investigation
DO  - 10.1172/jci198229
UR  - https://doi.org/10.1172/jci198229
ER  -

APA

Q, W., AK, S., C, T., S, H., TD, H., K, P., S, R., ME, M., LS, M., H, X., J, Z., Y, C., M, M., ML, L., N, C., A, V., A, P., NA, G., ME, S., AK, Y., DL, A., TC, H., JM, L., MA, L., J, K., H, M., J, R., C, L., RA, S., F, A., HE, S., NA, A., M, A., V, V., MJ, G. S., IM, W., NS, D., R, B., B, V. O., SM, H., MS, Z., G, E., E, A., J, K., S, E., H, H., A, N., M, T., U, A., Z, I., S, T., FS, A., EJ, B., R, M., B, S., H, H., Y, S., & D, L. (2026). Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.. The Journal of clinical investigation. https://doi.org/10.1172/jci198229

Source records

pubmed · retrieved 2026-09-24T22:09:30.261Z
europe-pmc · retrieved 2026-09-24T22:09:30.300Z