Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

Tassja Kalm, Claudia Schob, Hanna Völler, Thatjana Gardeitchik, Christian Gilissen, Rolph Pfundt, Chiara Klöckner, Konrad Platzer, Annick Klabunde-Cherwon, Markus Ries, Steffen Syrbe, Francesca Beccaria, Francesca Madia, Marcello Scala, Federico Zara, Floris Hofstede, Marleen E.H. Simon, Richard H. van Jaarsveld, Renske Oegema, Koen L.I. van Gassen, Sjoerd J.B. Holwerda, Tahsin Stefan Barakat, Arjan Bouman, Marjon van Slegtenhorst, Sara Álvarez, Alberto Fernández-Jaén, Javier Porta, Andrea Accogli, Margherita Maria Mancardi, Pasquale Striano, Michele Iacomino, Jong-Hee Chae, SeSong Jang, Soo Y. Kim, David Chitayat, Saadet Mercimek-Andrews, Christel Depienne, Antje Kampmeier, Alma Kuechler, Harald Surowy, Enrico Silvio Bertini, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Marco Tartaglia, Lucas Gauthier, David Genevieve, Mylène Tharreau, Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad, Naama Orenstein, Geneviève Bernard, Isabelle Thiffault, Jonas Denecke, Theresia Herget, Fanny Kortüm, Christian Kubisch, Robert Bähring, Stefan Kindler

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DOI
10.1016/j.ajhg.2024.04.019
Published
2024-06
Container
The American Journal of Human Genetics
Publisher
Elsevier BV
Open access
unknown

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BibTeX

@article{allodium:10.1016/j.ajhg.2024.04.019,
  title = {Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity},
  author = {Tassja Kalm and Claudia Schob and Hanna Völler and Thatjana Gardeitchik and Christian Gilissen and Rolph Pfundt and Chiara Klöckner and Konrad Platzer and Annick Klabunde-Cherwon and Markus Ries and Steffen Syrbe and Francesca Beccaria and Francesca Madia and Marcello Scala and Federico Zara and Floris Hofstede and Marleen E.H. Simon and Richard H. van Jaarsveld and Renske Oegema and Koen L.I. van Gassen and Sjoerd J.B. Holwerda and Tahsin Stefan Barakat and Arjan Bouman and Marjon van Slegtenhorst and Sara Álvarez and Alberto Fernández-Jaén and Javier Porta and Andrea Accogli and Margherita Maria Mancardi and Pasquale Striano and Michele Iacomino and Jong-Hee Chae and SeSong Jang and Soo Y. Kim and David Chitayat and Saadet Mercimek-Andrews and Christel Depienne and Antje Kampmeier and Alma Kuechler and Harald Surowy and Enrico Silvio Bertini and Francesca Clementina Radio and Cecilia Mancini and Simone Pizzi and Marco Tartaglia and Lucas Gauthier and David Genevieve and Mylène Tharreau and Noy Azoulay and Gal Zaks-Hoffer and Nesia K. Gilad and Naama Orenstein and Geneviève Bernard and Isabelle Thiffault and Jonas Denecke and Theresia Herget and Fanny Kortüm and Christian Kubisch and Robert Bähring and Stefan Kindler},
  year = {2024},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2024.04.019},
  url = {https://doi.org/10.1016/j.ajhg.2024.04.019}
}

RIS

TY  - JOUR
TI  - Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
AU  - Tassja Kalm
AU  - Claudia Schob
AU  - Hanna Völler
AU  - Thatjana Gardeitchik
AU  - Christian Gilissen
AU  - Rolph Pfundt
AU  - Chiara Klöckner
AU  - Konrad Platzer
AU  - Annick Klabunde-Cherwon
AU  - Markus Ries
AU  - Steffen Syrbe
AU  - Francesca Beccaria
AU  - Francesca Madia
AU  - Marcello Scala
AU  - Federico Zara
AU  - Floris Hofstede
AU  - Marleen E.H. Simon
AU  - Richard H. van Jaarsveld
AU  - Renske Oegema
AU  - Koen L.I. van Gassen
AU  - Sjoerd J.B. Holwerda
AU  - Tahsin Stefan Barakat
AU  - Arjan Bouman
AU  - Marjon van Slegtenhorst
AU  - Sara Álvarez
AU  - Alberto Fernández-Jaén
AU  - Javier Porta
AU  - Andrea Accogli
AU  - Margherita Maria Mancardi
AU  - Pasquale Striano
AU  - Michele Iacomino
AU  - Jong-Hee Chae
AU  - SeSong Jang
AU  - Soo Y. Kim
AU  - David Chitayat
AU  - Saadet Mercimek-Andrews
AU  - Christel Depienne
AU  - Antje Kampmeier
AU  - Alma Kuechler
AU  - Harald Surowy
AU  - Enrico Silvio Bertini
AU  - Francesca Clementina Radio
AU  - Cecilia Mancini
AU  - Simone Pizzi
AU  - Marco Tartaglia
AU  - Lucas Gauthier
AU  - David Genevieve
AU  - Mylène Tharreau
AU  - Noy Azoulay
AU  - Gal Zaks-Hoffer
AU  - Nesia K. Gilad
AU  - Naama Orenstein
AU  - Geneviève Bernard
AU  - Isabelle Thiffault
AU  - Jonas Denecke
AU  - Theresia Herget
AU  - Fanny Kortüm
AU  - Christian Kubisch
AU  - Robert Bähring
AU  - Stefan Kindler
PY  - 2024
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2024.04.019
UR  - https://doi.org/10.1016/j.ajhg.2024.04.019
ER  -

APA

Kalm, T., Schob, C., Völler, H., Gardeitchik, T., Gilissen, C., Pfundt, R., Klöckner, C., Platzer, K., Klabunde-Cherwon, A., Ries, M., Syrbe, S., Beccaria, F., Madia, F., Scala, M., Zara, F., Hofstede, F., Simon, M. E., Jaarsveld, R. H. V., Oegema, R., Gassen, K. L. V., Holwerda, S. J., Barakat, T. S., Bouman, A., Slegtenhorst, M. V., Álvarez, S., Fernández-Jaén, A., Porta, J., Accogli, A., Mancardi, M. M., Striano, P., Iacomino, M., Chae, J., Jang, S., Kim, S. Y., Chitayat, D., Mercimek-Andrews, S., Depienne, C., Kampmeier, A., Kuechler, A., Surowy, H., Bertini, E. S., Radio, F. C., Mancini, C., Pizzi, S., Tartaglia, M., Gauthier, L., Genevieve, D., Tharreau, M., Azoulay, N., Zaks-Hoffer, G., Gilad, N. K., Orenstein, N., Bernard, G., Thiffault, I., Denecke, J., Herget, T., Kortüm, F., Kubisch, C., Bähring, R., & Kindler, S. (2024). Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.04.019

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