Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
- DOI
- 10.1016/j.ajhg.2019.01.010
- Published
- 2019-03
- Container
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- 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.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- 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.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.1016/j.ajhg.2019.01.010,
title = {Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability},
author = {Benjamin Cogné and Sophie Ehresmann and Eliane Beauregard-Lacroix and Justine Rousseau and Thomas Besnard and Thomas Garcia and Slavé Petrovski and Shiri Avni and Kirsty McWalter and Patrick R. Blackburn and Stephan J. Sanders and Kévin Uguen and Jacqueline Harris and Julie S. Cohen and Moira Blyth and Anna Lehman and Jonathan Berg and Mindy H. Li and Usha Kini and Shelagh Joss and Charlotte von der Lippe and Christopher T. Gordon and Jennifer B. Humberson and Laurie Robak and Daryl A. Scott and Vernon R. Sutton and Cara M. Skraban and Jennifer J. Johnston and Annapurna Poduri and Magnus Nordenskjöld and Vandana Shashi and Erica H. Gerkes and Ernie M.H.F. Bongers and Christian Gilissen and Yuri A. Zarate and Malin Kvarnung and Kevin P. Lally and Peggy A. Kulch and Brina Daniels and Andres Hernandez-Garcia and Nicholas Stong and Julie McGaughran and Kyle Retterer and Kristian Tveten and Jennifer Sullivan and Madeleine R. Geisheker and Asbjorg Stray-Pedersen and Jennifer M. Tarpinian and Eric W. Klee and Julie C. Sapp and Jacob Zyskind and Øystein L. Holla and Emma Bedoukian and Francesca Filippini and Anne Guimier and Arnaud Picard and Øyvind L. Busk and Jaya Punetha and Rolph Pfundt and Anna Lindstrand and Ann Nordgren and Fayth Kalb and Megha Desai and Ashley Harmon Ebanks and Shalini N. Jhangiani and Tammie Dewan and Zeynep H. Coban Akdemir and Aida Telegrafi and Elaine H. Zackai and Amber Begtrup and Xiaofei Song and Annick Toutain and Ingrid M. Wentzensen and Sylvie Odent and Dominique Bonneau and Xénia Latypova and Wallid Deb and Sylvia Redon and Frédéric Bilan and Marine Legendre and Caitlin Troyer and Kerri Whitlock and Oana Caluseriu and Marine I. Murphree and Pavel N. Pichurin and Katherine Agre and Ralitza Gavrilova and Tuula Rinne and Meredith Park and Catherine Shain and Erin L. Heinzen and Rui Xiao and Jeanne Amiel and Stanislas Lyonnet and Bertrand Isidor and Leslie G. Biesecker and Dan Lowenstein and Jennifer E. Posey and Anne-Sophie Denommé-Pichon and Claude Férec and Xiang-Jiao Yang and Jill A. Rosenfeld and Brigitte Gilbert-Dussardier and Séverine Audebert-Bellanger and Richard Redon and Holly A.F. Stessman and Christoffer Nellaker and Yaping Yang and James R. Lupski and David B. Goldstein and Evan E. Eichler and Francois Bolduc and Stéphane Bézieau and Sébastien Küry and Philippe M. Campeau},
year = {2019},
journal = {The American Journal of Human Genetics},
doi = {10.1016/j.ajhg.2019.01.010},
url = {https://doi.org/10.1016/j.ajhg.2019.01.010}
}RIS
TY - JOUR TI - Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability AU - Benjamin Cogné AU - Sophie Ehresmann AU - Eliane Beauregard-Lacroix AU - Justine Rousseau AU - Thomas Besnard AU - Thomas Garcia AU - Slavé Petrovski AU - Shiri Avni AU - Kirsty McWalter AU - Patrick R. Blackburn AU - Stephan J. Sanders AU - Kévin Uguen AU - Jacqueline Harris AU - Julie S. Cohen AU - Moira Blyth AU - Anna Lehman AU - Jonathan Berg AU - Mindy H. Li AU - Usha Kini AU - Shelagh Joss AU - Charlotte von der Lippe AU - Christopher T. Gordon AU - Jennifer B. Humberson AU - Laurie Robak AU - Daryl A. Scott AU - Vernon R. Sutton AU - Cara M. Skraban AU - Jennifer J. Johnston AU - Annapurna Poduri AU - Magnus Nordenskjöld AU - Vandana Shashi AU - Erica H. Gerkes AU - Ernie M.H.F. Bongers AU - Christian Gilissen AU - Yuri A. Zarate AU - Malin Kvarnung AU - Kevin P. Lally AU - Peggy A. Kulch AU - Brina Daniels AU - Andres Hernandez-Garcia AU - Nicholas Stong AU - Julie McGaughran AU - Kyle Retterer AU - Kristian Tveten AU - Jennifer Sullivan AU - Madeleine R. Geisheker AU - Asbjorg Stray-Pedersen AU - Jennifer M. Tarpinian AU - Eric W. Klee AU - Julie C. Sapp AU - Jacob Zyskind AU - Øystein L. Holla AU - Emma Bedoukian AU - Francesca Filippini AU - Anne Guimier AU - Arnaud Picard AU - Øyvind L. Busk AU - Jaya Punetha AU - Rolph Pfundt AU - Anna Lindstrand AU - Ann Nordgren AU - Fayth Kalb AU - Megha Desai AU - Ashley Harmon Ebanks AU - Shalini N. Jhangiani AU - Tammie Dewan AU - Zeynep H. Coban Akdemir AU - Aida Telegrafi AU - Elaine H. Zackai AU - Amber Begtrup AU - Xiaofei Song AU - Annick Toutain AU - Ingrid M. Wentzensen AU - Sylvie Odent AU - Dominique Bonneau AU - Xénia Latypova AU - Wallid Deb AU - Sylvia Redon AU - Frédéric Bilan AU - Marine Legendre AU - Caitlin Troyer AU - Kerri Whitlock AU - Oana Caluseriu AU - Marine I. Murphree AU - Pavel N. Pichurin AU - Katherine Agre AU - Ralitza Gavrilova AU - Tuula Rinne AU - Meredith Park AU - Catherine Shain AU - Erin L. Heinzen AU - Rui Xiao AU - Jeanne Amiel AU - Stanislas Lyonnet AU - Bertrand Isidor AU - Leslie G. Biesecker AU - Dan Lowenstein AU - Jennifer E. Posey AU - Anne-Sophie Denommé-Pichon AU - Claude Férec AU - Xiang-Jiao Yang AU - Jill A. Rosenfeld AU - Brigitte Gilbert-Dussardier AU - Séverine Audebert-Bellanger AU - Richard Redon AU - Holly A.F. Stessman AU - Christoffer Nellaker AU - Yaping Yang AU - James R. Lupski AU - David B. Goldstein AU - Evan E. Eichler AU - Francois Bolduc AU - Stéphane Bézieau AU - Sébastien Küry AU - Philippe M. Campeau PY - 2019 JO - The American Journal of Human Genetics DO - 10.1016/j.ajhg.2019.01.010 UR - https://doi.org/10.1016/j.ajhg.2019.01.010 ER -
APA
Cogné, B., Ehresmann, S., Beauregard-Lacroix, E., Rousseau, J., Besnard, T., Garcia, T., Petrovski, S., Avni, S., McWalter, K., Blackburn, P. R., Sanders, S. J., Uguen, K., Harris, J., Cohen, J. S., Blyth, M., Lehman, A., Berg, J., Li, M. H., Kini, U., Joss, S., Lippe, C. V. D., Gordon, C. T., Humberson, J. B., Robak, L., Scott, D. A., Sutton, V. R., Skraban, C. M., Johnston, J. J., Poduri, A., Nordenskjöld, M., Shashi, V., Gerkes, E. H., Bongers, E. M., Gilissen, C., Zarate, Y. A., Kvarnung, M., Lally, K. P., Kulch, P. A., Daniels, B., Hernandez-Garcia, A., Stong, N., McGaughran, J., Retterer, K., Tveten, K., Sullivan, J., Geisheker, M. R., Stray-Pedersen, A., Tarpinian, J. M., Klee, E. W., Sapp, J. C., Zyskind, J., Holla, Ø. L., Bedoukian, E., Filippini, F., Guimier, A., Picard, A., Busk, Ø. L., Punetha, J., Pfundt, R., Lindstrand, A., Nordgren, A., Kalb, F., Desai, M., Ebanks, A. H., Jhangiani, S. N., Dewan, T., Akdemir, Z. H. C., Telegrafi, A., Zackai, E. H., Begtrup, A., Song, X., Toutain, A., Wentzensen, I. M., Odent, S., Bonneau, D., Latypova, X., Deb, W., Redon, S., Bilan, F., Legendre, M., Troyer, C., Whitlock, K., Caluseriu, O., Murphree, M. I., Pichurin, P. N., Agre, K., Gavrilova, R., Rinne, T., Park, M., Shain, C., Heinzen, E. L., Xiao, R., Amiel, J., Lyonnet, S., Isidor, B., Biesecker, L. G., Lowenstein, D., Posey, J. E., Denommé-Pichon, A., Férec, C., Yang, X., Rosenfeld, J. A., Gilbert-Dussardier, B., Audebert-Bellanger, S., Redon, R., Stessman, H. A., Nellaker, C., Yang, Y., Lupski, J. R., Goldstein, D. B., Eichler, E. E., Bolduc, F., Bézieau, S., Küry, S., & Campeau, P. M. (2019). Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2019.01.010
Source records
- crossref · retrieved 2026-09-25T07:05:28.364Z