BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
- DOI
- 10.1038/s41431-024-01701-z
- Published
- 2024-10-24
- Container
- European Journal of Human Genetics
- Publisher
- Springer Science and Business Media LLC
- 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:10.1038/s41431-024-01701-z,
title = {BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations},
author = {Angela Peron and Felice D’Arco and Kimberly A. Aldinger and Constance Smith-Hicks and Christiane Zweier and Gyri A. Gradek and Kimberley Bradbury and Andrea Accogli and Erica F. Andersen and Ping Yee Billie Au and Roberta Battini and Daniah Beleford and Lynne M. Bird and Arjan Bouman and Ange-Line Bruel and Øyvind Løvold Busk and Philippe M. Campeau and Valeria Capra and Colleen Carlston and Jenny Carmichael and Anna Chassevent and Jill Clayton-Smith and Michael J. Bamshad and Dawn L. Earl and Laurence Faivre and Christophe Philippe and Patrick Ferreira and Luitgard Graul-Neumann and Mary J. Green and Darrah Haffner and Parthiv Haldipur and Suhair Hanna and Gunnar Houge and Wendy D. Jones and Cornelia Kraus and Birgit Elisabeth Kristiansen and James Lespinasse and Karen J. Low and Sally Ann Lynch and Sofia Maia and Rong Mao and Ruta Kalinauskiene and Catherine Melver and Kimberly McDonald and Tara Montgomery and Manuela Morleo and Constance Motter and Amanda S. Openshaw and Janice Cox Palumbos and Aditi Shah Parikh and Yezmin Perilla-Young and Cynthia M. Powell and Richard Person and Megha Desai and Juliette Piard and Rolph Pfundt and Marcello Scala and Margaux Serey-Gaut and Deborah Shears and Anne Slavotinek and Mohnish Suri and Claire Turner and Tatiana Tvrdik and Karin Weiss and Ingrid M. Wentzensen and Marcella Zollino and Tzung-Chien Hsieh and Unknown and Keri Ramsey and Unknown and Angela Peron and Andrea Accogli and Valeria Capra and Manuela Morleo and Marcello Scala and Marcella Zollino and Unknown and Bert B. A. de Vries and Francois Guillemot and William B. Dobyns and David Viskochil and Cristina Dias},
year = {2024},
journal = {European Journal of Human Genetics},
doi = {10.1038/s41431-024-01701-z},
url = {https://doi.org/10.1038/s41431-024-01701-z}
}RIS
TY - JOUR TI - BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations AU - Angela Peron AU - Felice D’Arco AU - Kimberly A. Aldinger AU - Constance Smith-Hicks AU - Christiane Zweier AU - Gyri A. Gradek AU - Kimberley Bradbury AU - Andrea Accogli AU - Erica F. Andersen AU - Ping Yee Billie Au AU - Roberta Battini AU - Daniah Beleford AU - Lynne M. Bird AU - Arjan Bouman AU - Ange-Line Bruel AU - Øyvind Løvold Busk AU - Philippe M. Campeau AU - Valeria Capra AU - Colleen Carlston AU - Jenny Carmichael AU - Anna Chassevent AU - Jill Clayton-Smith AU - Michael J. Bamshad AU - Dawn L. Earl AU - Laurence Faivre AU - Christophe Philippe AU - Patrick Ferreira AU - Luitgard Graul-Neumann AU - Mary J. Green AU - Darrah Haffner AU - Parthiv Haldipur AU - Suhair Hanna AU - Gunnar Houge AU - Wendy D. Jones AU - Cornelia Kraus AU - Birgit Elisabeth Kristiansen AU - James Lespinasse AU - Karen J. Low AU - Sally Ann Lynch AU - Sofia Maia AU - Rong Mao AU - Ruta Kalinauskiene AU - Catherine Melver AU - Kimberly McDonald AU - Tara Montgomery AU - Manuela Morleo AU - Constance Motter AU - Amanda S. Openshaw AU - Janice Cox Palumbos AU - Aditi Shah Parikh AU - Yezmin Perilla-Young AU - Cynthia M. Powell AU - Richard Person AU - Megha Desai AU - Juliette Piard AU - Rolph Pfundt AU - Marcello Scala AU - Margaux Serey-Gaut AU - Deborah Shears AU - Anne Slavotinek AU - Mohnish Suri AU - Claire Turner AU - Tatiana Tvrdik AU - Karin Weiss AU - Ingrid M. Wentzensen AU - Marcella Zollino AU - Tzung-Chien Hsieh AU - Unknown AU - Keri Ramsey AU - Unknown AU - Angela Peron AU - Andrea Accogli AU - Valeria Capra AU - Manuela Morleo AU - Marcello Scala AU - Marcella Zollino AU - Unknown AU - Bert B. A. de Vries AU - Francois Guillemot AU - William B. Dobyns AU - David Viskochil AU - Cristina Dias PY - 2024 JO - European Journal of Human Genetics DO - 10.1038/s41431-024-01701-z UR - https://doi.org/10.1038/s41431-024-01701-z ER -
APA
Peron, A., D’Arco, F., Aldinger, K. A., Smith-Hicks, C., Zweier, C., Gradek, G. A., Bradbury, K., Accogli, A., Andersen, E. F., Au, P. Y. B., Battini, R., Beleford, D., Bird, L. M., Bouman, A., Bruel, A., Busk, Ø. L., Campeau, P. M., Capra, V., Carlston, C., Carmichael, J., Chassevent, A., Clayton-Smith, J., Bamshad, M. J., Earl, D. L., Faivre, L., Philippe, C., Ferreira, P., Graul-Neumann, L., Green, M. J., Haffner, D., Haldipur, P., Hanna, S., Houge, G., Jones, W. D., Kraus, C., Kristiansen, B. E., Lespinasse, J., Low, K. J., Lynch, S. A., Maia, S., Mao, R., Kalinauskiene, R., Melver, C., McDonald, K., Montgomery, T., Morleo, M., Motter, C., Openshaw, A. S., Palumbos, J. C., Parikh, A. S., Perilla-Young, Y., Powell, C. M., Person, R., Desai, M., Piard, J., Pfundt, R., Scala, M., Serey-Gaut, M., Shears, D., Slavotinek, A., Suri, M., Turner, C., Tvrdik, T., Weiss, K., Wentzensen, I. M., Zollino, M., Hsieh, T., Unknown, Ramsey, K., Unknown, Peron, A., Accogli, A., Capra, V., Morleo, M., Scala, M., Zollino, M., Unknown, Vries, B. B. A. D., Guillemot, F., Dobyns, W. B., Viskochil, D., & Dias, C. (2024). BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations. European Journal of Human Genetics. https://doi.org/10.1038/s41431-024-01701-z
Source records
- crossref · retrieved 2026-09-26T10:14:07.851Z