BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance Smith-Hicks, Christiane Zweier, Gyri A. Gradek, Kimberley Bradbury, Andrea Accogli, Erica F. Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange-Line Bruel, Øyvind Løvold Busk, Philippe M. Campeau, Valeria Capra, Colleen Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton-Smith, Michael J. Bamshad, Dawn L. Earl, Laurence Faivre, Christophe Philippe, Patrick Ferreira, Luitgard Graul-Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Wendy D. Jones, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen J. Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Kalinauskiene, Catherine Melver, Kimberly McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda S. Openshaw, Janice Cox Palumbos, Aditi Shah Parikh, Yezmin Perilla-Young, Cynthia M. Powell, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey-Gaut, Deborah Shears, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Tzung-Chien Hsieh, Unknown, Keri Ramsey, Unknown, Angela Peron, Andrea Accogli, Valeria Capra, Manuela Morleo, Marcello Scala, Marcella Zollino, Unknown, Bert B. A. de Vries, Francois Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

Open source

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

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