Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Alix Paulet, Cavan Bennett-Ness, Faustine Ageorges, Detlef Trost, Andrew Green, David Goudie, Rosalyn Jewell, Minna Kraatari-Tiri, Juliette PIARD, Christine Coubes, Wayne Lam, Sally Ann Lynch, Samuel Groeschel, Francis Ramond, Joël Fluss, Christina Fagerberg, Charlotte Brasch Andersen, Konstantinos Varvagiannis, Tjitske Kleefstra, Bénédicte Gérard, Mélanie Fradin, Antonio Vitobello, Romano Tenconi, Anne-Sophie Denommé-Pichon, Aline Vincent-Devulder, Tobias Haack, Joseph A Marsh, Lone Walentin Laulund, Mona Grimmel, Angelika Riess, Elke de Boer, Sergio Padilla-Lopez, Somayeh Bakhtiari, Adam Ostendorf, Christiane Zweier, Thomas Smol, Marjolaine Willems, Laurence Faivre, Marcello Scala, Pasquale Striano, Irene Bagnasco, Daniel Koboldt, Maria Iascone, Manon Suerink, Michael C Kruer, Jonathan Levy, Alain Verloes, Catherine M Abbott, Lyse Ruaud

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DOI: 10.1038/s41431-024-01560-8
Published: 2024-02-15
Container: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1038/s41431-024-01560-8,
  title = {Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study},
  author = {Alix Paulet and Cavan Bennett-Ness and Faustine Ageorges and Detlef Trost and Andrew Green and David Goudie and Rosalyn Jewell and Minna Kraatari-Tiri and Juliette PIARD and Christine Coubes and Wayne Lam and Sally Ann Lynch and Samuel Groeschel and Francis Ramond and Joël Fluss and Christina Fagerberg and Charlotte Brasch Andersen and Konstantinos Varvagiannis and Tjitske Kleefstra and Bénédicte Gérard and Mélanie Fradin and Antonio Vitobello and Romano Tenconi and Anne-Sophie Denommé-Pichon and Aline Vincent-Devulder and Tobias Haack and Joseph A Marsh and Lone Walentin Laulund and Mona Grimmel and Angelika Riess and Elke de Boer and Sergio Padilla-Lopez and Somayeh Bakhtiari and Adam Ostendorf and Christiane Zweier and Thomas Smol and Marjolaine Willems and Laurence Faivre and Marcello Scala and Pasquale Striano and Irene Bagnasco and Daniel Koboldt and Maria Iascone and Manon Suerink and Michael C Kruer and Jonathan Levy and Alain Verloes and Catherine M Abbott and Lyse Ruaud},
  year = {2024},
  journal = {European Journal of Human Genetics},
  doi = {10.1038/s41431-024-01560-8},
  url = {https://doi.org/10.1038/s41431-024-01560-8}
}

RIS

TY  - JOUR
TI  - Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
AU  - Alix Paulet
AU  - Cavan Bennett-Ness
AU  - Faustine Ageorges
AU  - Detlef Trost
AU  - Andrew Green
AU  - David Goudie
AU  - Rosalyn Jewell
AU  - Minna Kraatari-Tiri
AU  - Juliette PIARD
AU  - Christine Coubes
AU  - Wayne Lam
AU  - Sally Ann Lynch
AU  - Samuel Groeschel
AU  - Francis Ramond
AU  - Joël Fluss
AU  - Christina Fagerberg
AU  - Charlotte Brasch Andersen
AU  - Konstantinos Varvagiannis
AU  - Tjitske Kleefstra
AU  - Bénédicte Gérard
AU  - Mélanie Fradin
AU  - Antonio Vitobello
AU  - Romano Tenconi
AU  - Anne-Sophie Denommé-Pichon
AU  - Aline Vincent-Devulder
AU  - Tobias Haack
AU  - Joseph A Marsh
AU  - Lone Walentin Laulund
AU  - Mona Grimmel
AU  - Angelika Riess
AU  - Elke de Boer
AU  - Sergio Padilla-Lopez
AU  - Somayeh Bakhtiari
AU  - Adam Ostendorf
AU  - Christiane Zweier
AU  - Thomas Smol
AU  - Marjolaine Willems
AU  - Laurence Faivre
AU  - Marcello Scala
AU  - Pasquale Striano
AU  - Irene Bagnasco
AU  - Daniel Koboldt
AU  - Maria Iascone
AU  - Manon Suerink
AU  - Michael C Kruer
AU  - Jonathan Levy
AU  - Alain Verloes
AU  - Catherine M Abbott
AU  - Lyse Ruaud
PY  - 2024
JO  - European Journal of Human Genetics
DO  - 10.1038/s41431-024-01560-8
UR  - https://doi.org/10.1038/s41431-024-01560-8
ER  -

APA

Paulet, A., Bennett-Ness, C., Ageorges, F., Trost, D., Green, A., Goudie, D., Jewell, R., Kraatari-Tiri, M., PIARD, J., Coubes, C., Lam, W., Lynch, S. A., Groeschel, S., Ramond, F., Fluss, J., Fagerberg, C., Andersen, C. B., Varvagiannis, K., Kleefstra, T., Gérard, B., Fradin, M., Vitobello, A., Tenconi, R., Denommé-Pichon, A., Vincent-Devulder, A., Haack, T., Marsh, J. A., Laulund, L. W., Grimmel, M., Riess, A., Boer, E. D., Padilla-Lopez, S., Bakhtiari, S., Ostendorf, A., Zweier, C., Smol, T., Willems, M., Faivre, L., Scala, M., Striano, P., Bagnasco, I., Koboldt, D., Iascone, M., Suerink, M., Kruer, M. C., Levy, J., Verloes, A., Abbott, C. M., & Ruaud, L. (2024). Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study. European Journal of Human Genetics. https://doi.org/10.1038/s41431-024-01560-8

Source records

crossref · retrieved 2026-09-26T12:08:00.787Z