Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Boon M, Mulligan MR, Verseput JJA, Šakić B, Schreurs P, Coll-Tané M, Accogli A, Alderman E, Athey T, Boerkoel C, Boni A, Caumes R, Gerkes E, Haase S, Jaillard S, Jeffries L, Kannu P, Konstantino M, Lévy J, Lokchine A, Massink M, Samra NN, Oegema R, Scala M, Schieving J, Schwartzmann S, Sczakiel HL, Smol T, Striano P, Verloes A, Begtrup A, Pfundt R, Franke B, Klein M, Schenck A, Bicknell LS, de Vries BBA

Open source

DOI: 10.1016/j.ajhg.2026.07.007
Published: 2026 Sep 3
Container: American journal of human genetics
Publisher: Not recorded
Open access: unknown

Credibility signals

limited evidence Score 43/100 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
not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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:10.1016/j.ajhg.2026.07.007,
  title = {Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.},
  author = {Boon M and Mulligan MR and Verseput JJA and Šakić B and Schreurs P and Coll-Tané M and Accogli A and Alderman E and Athey T and Boerkoel C and Boni A and Caumes R and Gerkes E and Haase S and Jaillard S and Jeffries L and Kannu P and Konstantino M and Lévy J and Lokchine A and Massink M and Samra NN and Oegema R and Scala M and Schieving J and Schwartzmann S and Sczakiel HL and Smol T and Striano P and Verloes A and Begtrup A and Pfundt R and Franke B and Klein M and Schenck A and Bicknell LS and de Vries BBA},
  year = {2026},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2026.07.007},
  url = {https://doi.org/10.1016/j.ajhg.2026.07.007}
}

RIS

TY  - JOUR
TI  - Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
AU  - Boon M
AU  - Mulligan MR
AU  - Verseput JJA
AU  - Šakić B
AU  - Schreurs P
AU  - Coll-Tané M
AU  - Accogli A
AU  - Alderman E
AU  - Athey T
AU  - Boerkoel C
AU  - Boni A
AU  - Caumes R
AU  - Gerkes E
AU  - Haase S
AU  - Jaillard S
AU  - Jeffries L
AU  - Kannu P
AU  - Konstantino M
AU  - Lévy J
AU  - Lokchine A
AU  - Massink M
AU  - Samra NN
AU  - Oegema R
AU  - Scala M
AU  - Schieving J
AU  - Schwartzmann S
AU  - Sczakiel HL
AU  - Smol T
AU  - Striano P
AU  - Verloes A
AU  - Begtrup A
AU  - Pfundt R
AU  - Franke B
AU  - Klein M
AU  - Schenck A
AU  - Bicknell LS
AU  - de Vries BBA
PY  - 2026
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2026.07.007
UR  - https://doi.org/10.1016/j.ajhg.2026.07.007
ER  -

APA

M, B., MR, M., JJA, V., B, Š., P, S., M, C., A, A., E, A., T, A., C, B., A, B., R, C., E, G., S, H., S, J., L, J., P, K., M, K., J, L., A, L., M, M., NN, S., R, O., M, S., J, S., S, S., HL, S., T, S., P, S., A, V., A, B., R, P., B, F., M, K., A, S., LS, B., & BBA, D. V. (2026). Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2026.07.007

Source records

pubmed · retrieved 2026-09-25T23:53:21.935Z