De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, GEM HUGO, Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S

Open source

DOI: 10.1016/j.ajhg.2017.10.003
Published: 2017 Nov 2
Container: American journal of human genetics
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:10.1016/j.ajhg.2017.10.003,
  title = {De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.},
  author = {Küry S and van Woerden GM and Besnard T and Proietti Onori M and Latypova X and Towne MC and Cho MT and Prescott TE and Ploeg MA and Sanders S and Stessman HAF and Pujol A and Distel B and Robak LA and Bernstein JA and Denommé-Pichon AS and Lesca G and Sellars EA and Berg J and Carré W and Busk ØL and van Bon BWM and Waugh JL and Deardorff M and Hoganson GE and Bosanko KB and Johnson DS and Dabir T and Holla ØL and Sarkar A and Tveten K and de Bellescize J and Braathen GJ and Terhal PA and Grange DK and van Haeringen A and Lam C and Mirzaa G and Burton J and Bhoj EJ and Douglas J and Santani AB and Nesbitt AI and Helbig KL and Andrews MV and Begtrup A and Tang S and van Gassen KLI and Juusola J and Foss K and Enns GM and Moog U and Hinderhofer K and Paramasivam N and Lincoln S and Kusako BH and Lindenbaum P and Charpentier E and Nowak CB and Cherot E and Simonet T and Ruivenkamp CAL and Hahn S and Brownstein CA and Xia F and Schmitt S and Deb W and Bonneau D and Nizon M and Quinquis D and Chelly J and Rudolf G and Sanlaville D and Parent P and Gilbert-Dussardier B and Toutain A and Sutton VR and Thies J and Peart-Vissers LELM and Boisseau P and Vincent M and Grabrucker AM and Dubourg C and Undiagnosed Diseases Network and Tan WH and Verbeek NE and Granzow M and Santen GWE and Shendure J and Isidor B and Pasquier L and Redon R and Yang Y and State MW and Kleefstra T and Cogné B and GEM HUGO and Deciphering Developmental Disorders Study and Petrovski S and Retterer K and Eichler EE and Rosenfeld JA and Agrawal PB and Bézieau S and Odent S and Elgersma Y and Mercier S},
  year = {2017},
  journal = {American journal of human genetics},
  doi = {10.1016/j.ajhg.2017.10.003},
  url = {https://doi.org/10.1016/j.ajhg.2017.10.003}
}

RIS

TY  - JOUR
TI  - De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
AU  - Küry S
AU  - van Woerden GM
AU  - Besnard T
AU  - Proietti Onori M
AU  - Latypova X
AU  - Towne MC
AU  - Cho MT
AU  - Prescott TE
AU  - Ploeg MA
AU  - Sanders S
AU  - Stessman HAF
AU  - Pujol A
AU  - Distel B
AU  - Robak LA
AU  - Bernstein JA
AU  - Denommé-Pichon AS
AU  - Lesca G
AU  - Sellars EA
AU  - Berg J
AU  - Carré W
AU  - Busk ØL
AU  - van Bon BWM
AU  - Waugh JL
AU  - Deardorff M
AU  - Hoganson GE
AU  - Bosanko KB
AU  - Johnson DS
AU  - Dabir T
AU  - Holla ØL
AU  - Sarkar A
AU  - Tveten K
AU  - de Bellescize J
AU  - Braathen GJ
AU  - Terhal PA
AU  - Grange DK
AU  - van Haeringen A
AU  - Lam C
AU  - Mirzaa G
AU  - Burton J
AU  - Bhoj EJ
AU  - Douglas J
AU  - Santani AB
AU  - Nesbitt AI
AU  - Helbig KL
AU  - Andrews MV
AU  - Begtrup A
AU  - Tang S
AU  - van Gassen KLI
AU  - Juusola J
AU  - Foss K
AU  - Enns GM
AU  - Moog U
AU  - Hinderhofer K
AU  - Paramasivam N
AU  - Lincoln S
AU  - Kusako BH
AU  - Lindenbaum P
AU  - Charpentier E
AU  - Nowak CB
AU  - Cherot E
AU  - Simonet T
AU  - Ruivenkamp CAL
AU  - Hahn S
AU  - Brownstein CA
AU  - Xia F
AU  - Schmitt S
AU  - Deb W
AU  - Bonneau D
AU  - Nizon M
AU  - Quinquis D
AU  - Chelly J
AU  - Rudolf G
AU  - Sanlaville D
AU  - Parent P
AU  - Gilbert-Dussardier B
AU  - Toutain A
AU  - Sutton VR
AU  - Thies J
AU  - Peart-Vissers LELM
AU  - Boisseau P
AU  - Vincent M
AU  - Grabrucker AM
AU  - Dubourg C
AU  - Undiagnosed Diseases Network
AU  - Tan WH
AU  - Verbeek NE
AU  - Granzow M
AU  - Santen GWE
AU  - Shendure J
AU  - Isidor B
AU  - Pasquier L
AU  - Redon R
AU  - Yang Y
AU  - State MW
AU  - Kleefstra T
AU  - Cogné B
AU  - GEM HUGO
AU  - Deciphering Developmental Disorders Study
AU  - Petrovski S
AU  - Retterer K
AU  - Eichler EE
AU  - Rosenfeld JA
AU  - Agrawal PB
AU  - Bézieau S
AU  - Odent S
AU  - Elgersma Y
AU  - Mercier S
PY  - 2017
JO  - American journal of human genetics
DO  - 10.1016/j.ajhg.2017.10.003
UR  - https://doi.org/10.1016/j.ajhg.2017.10.003
ER  -

APA

S, K., GM, V. W., T, B., M, P. O., X, L., MC, T., MT, C., TE, P., MA, P., S, S., HAF, S., A, P., B, D., LA, R., JA, B., AS, D., G, L., EA, S., J, B., W, C., ØL, B., BWM, V. B., JL, W., M, D., GE, H., KB, B., DS, J., T, D., ØL, H., A, S., K, T., J, D. B., GJ, B., PA, T., DK, G., A, V. H., C, L., G, M., J, B., EJ, B., J, D., AB, S., AI, N., KL, H., MV, A., A, B., S, T., KLI, V. G., J, J., K, F., GM, E., U, M., K, H., N, P., S, L., BH, K., P, L., E, C., CB, N., E, C., T, S., CAL, R., S, H., CA, B., F, X., S, S., W, D., D, B., M, N., D, Q., J, C., G, R., D, S., P, P., B, G., A, T., VR, S., J, T., LELM, P., P, B., M, V., AM, G., C, D., Network, U. D., WH, T., NE, V., M, G., GWE, S., J, S., B, I., L, P., R, R., Y, Y., MW, S., T, K., B, C., HUGO, G., Study, D. D. D., S, P., K, R., EE, E., JA, R., PB, A., S, B., S, O., Y, E., & S, M. (2017). De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.. American journal of human genetics. https://doi.org/10.1016/j.ajhg.2017.10.003

Source records

pubmed · retrieved 2026-09-25T07:27:48.819Z