<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer

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DOI: 10.1093/brain/awad301
Published: 2023-09-15
Container: Brain
Publisher: Oxford University Press (OUP)
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1093/brain/awad301,
  title = {<i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions},
  author = {Hashem Almousa and Sara A Lewis and Somayeh Bakhtiari and Sandra Hinz Nordlie and Alex Pagnozzi and Helen Magee and Stephanie Efthymiou and Jennifer A Heim and Patricia Cornejo and Maha S Zaki and Najwa Anwar and Shazia Maqbool and Fatima Rahman and Derek E Neilson and Anusha Vemuri and Sheng Chih Jin and Xiao-Ru Yang and Abolfazl Heidari and Koen van Gassen and Aurélien Trimouille and Christel Thauvin-Robinet and James Liu and Ange-Line Bruel and Hoda Tomoum and Mennatallah O Shata and Mais O Hashem and Mehran Beiraghi Toosi and Ehsan Ghayoor Karimiani and Gözde Yeşil and Lokesh Lingappa and Debangana Baruah and Farnoosh Ebrahimzadeh and Julien Van-Gils and Laurence Faivre and Mina Zamani and Hamid Galehdari and Saeid Sadeghian and Gholamreza Shariati and Rahema Mohammad and Jasper van der Smagt and Alya Qari and John B Vincent and A Micheil Innes and Ali Dursun and R Köksal Özgül and Halil Tuna Akar and Kaya Bilguvar and Cyril Mignot and Boris Keren and Claudia Raveli and Lydie Burglen and Alexandra Afenjar and Laura Donker Kaat and Marjon van Slegtenhorst and Fowzan Alkuraya and Henry Houlden and Sergio Padilla-Lopez and Reza Maroofian and Michael Sacher and Michael C Kruer},
  year = {2023},
  journal = {Brain},
  doi = {10.1093/brain/awad301},
  url = {https://doi.org/10.1093/brain/awad301}
}

RIS

TY  - JOUR
TI  - <i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions
AU  - Hashem Almousa
AU  - Sara A Lewis
AU  - Somayeh Bakhtiari
AU  - Sandra Hinz Nordlie
AU  - Alex Pagnozzi
AU  - Helen Magee
AU  - Stephanie Efthymiou
AU  - Jennifer A Heim
AU  - Patricia Cornejo
AU  - Maha S Zaki
AU  - Najwa Anwar
AU  - Shazia Maqbool
AU  - Fatima Rahman
AU  - Derek E Neilson
AU  - Anusha Vemuri
AU  - Sheng Chih Jin
AU  - Xiao-Ru Yang
AU  - Abolfazl Heidari
AU  - Koen van Gassen
AU  - Aurélien Trimouille
AU  - Christel Thauvin-Robinet
AU  - James Liu
AU  - Ange-Line Bruel
AU  - Hoda Tomoum
AU  - Mennatallah O Shata
AU  - Mais O Hashem
AU  - Mehran Beiraghi Toosi
AU  - Ehsan Ghayoor Karimiani
AU  - Gözde Yeşil
AU  - Lokesh Lingappa
AU  - Debangana Baruah
AU  - Farnoosh Ebrahimzadeh
AU  - Julien Van-Gils
AU  - Laurence Faivre
AU  - Mina Zamani
AU  - Hamid Galehdari
AU  - Saeid Sadeghian
AU  - Gholamreza Shariati
AU  - Rahema Mohammad
AU  - Jasper van der Smagt
AU  - Alya Qari
AU  - John B Vincent
AU  - A Micheil Innes
AU  - Ali Dursun
AU  - R Köksal Özgül
AU  - Halil Tuna Akar
AU  - Kaya Bilguvar
AU  - Cyril Mignot
AU  - Boris Keren
AU  - Claudia Raveli
AU  - Lydie Burglen
AU  - Alexandra Afenjar
AU  - Laura Donker Kaat
AU  - Marjon van Slegtenhorst
AU  - Fowzan Alkuraya
AU  - Henry Houlden
AU  - Sergio Padilla-Lopez
AU  - Reza Maroofian
AU  - Michael Sacher
AU  - Michael C Kruer
PY  - 2023
JO  - Brain
DO  - 10.1093/brain/awad301
UR  - https://doi.org/10.1093/brain/awad301
ER  -

APA

Almousa, H., Lewis, S. A., Bakhtiari, S., Nordlie, S. H., Pagnozzi, A., Magee, H., Efthymiou, S., Heim, J. A., Cornejo, P., Zaki, M. S., Anwar, N., Maqbool, S., Rahman, F., Neilson, D. E., Vemuri, A., Jin, S. C., Yang, X., Heidari, A., Gassen, K. V., Trimouille, A., Thauvin-Robinet, C., Liu, J., Bruel, A., Tomoum, H., Shata, M. O., Hashem, M. O., Toosi, M. B., Karimiani, E. G., Yeşil, G., Lingappa, L., Baruah, D., Ebrahimzadeh, F., Van-Gils, J., Faivre, L., Zamani, M., Galehdari, H., Sadeghian, S., Shariati, G., Mohammad, R., Smagt, J. V. D., Qari, A., Vincent, J. B., Innes, A. M., Dursun, A., Özgül, R. K., Akar, H. T., Bilguvar, K., Mignot, C., Keren, B., Raveli, C., Burglen, L., Afenjar, A., Kaat, L. D., Slegtenhorst, M. V., Alkuraya, F., Houlden, H., Padilla-Lopez, S., Maroofian, R., Sacher, M., & Kruer, M. C. (2023). <i>TRAPPC6B</i> biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain. https://doi.org/10.1093/brain/awad301

Source records

crossref · retrieved 2026-09-26T17:00:11.363Z