Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Eva Medico Salsench; Reza Maroofian; Ruizhi Deng; Kristina Lanko; Anita Nikoncuk; Belén Pérez; Obdulia Sánchez-Lijarcio; Salvador Ibáñez-Mico; Antonina Wojcik; Marcelo Vargas; Nouriya Abbas Al-Sannaa; Marian Y. Girgis; Tainá Regina Damaceno Silveira; Peter Bauer; Audrey Schroeder; Chin To Fong; Amber Begtrup; Meisam Babaei; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Mohammad Doosti; Najmeh Ahangari; Paria Najarzadeh Torbati; Ehsan Ghayoor Karimiani; David Murphy; Elisa Cali; Ibrahim H. Kaya; Mohammad Almuhaizea; Dilek Colak; Kelly J. Cardona-Londoño; Stefan T. Arold; Henry Houlden; Aida Bertoli-Avella; Namik Kaya; Tahsin Stefan Barakat

doi:10.1093/brain/awab297

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Eva Medico Salsench
, Reza Maroofian
, Ruizhi Deng
, Kristina Lanko
, Anita Nikoncuk
, Belén Pérez
, Obdulia Sánchez-Lijarcio
, Salvador Ibáñez-Mico
, Antonina Wojcik
, Marcelo Vargas
, Nouriya Abbas Al-Sannaa
, Marian Y. Girgis
, Tainá Regina Damaceno Silveira
, Peter Bauer
, Audrey Schroeder
, Chin To Fong
, Amber Begtrup
, Meisam Babaei
, Mehran Beiraghi Toosi
, Farah Ashrafzadeh

Shima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H. Kaya, Mohammad Almuhaizea, Dilek Colak, Kelly J. Cardona-Londoño, Stefan T. Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya^*, Tahsin Stefan Barakat^*

^*Corresponding author for this work

Clinical Genetics

University College London
Universidad Autónoma de Madrid
Arrixaca Universitary Hospital
Gillette Children's Specialty Healthcare
Saudi Arabian Oil Company
Cairo University
Centogene AG
University of Rochester
GeneDX Inc
North Khorasan University of Medical Sciences
Mashhad University of Medical Sciences
Next Generation Genetic Polyclinic
City St George's, University of London
Islamic Azad University
Alfaisal University
King Faisal Specialist Hospital and Research Centre
King Abdullah University of Science and Technology
Université de Montpellier

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

57 Downloads (Pure)

Original language	English
Article number	e86
Journal	Brain
Volume	144
Issue number	10
Early online date	9 Aug 2021
DOIs	https://doi.org/10.1093/brain/awab297
Publication status	Published - Oct 2021

Bibliographical note

Funding:
R.D. is supported by a China Scholarship Council (CSC) PhD
Fellowship (201906300026) for her PhD studies at the Erasmus
Medical Center, Rotterdam, the Netherlands. B.P. was funded by
PI19/01155 and B2017/BMD-3721. The work by K.J.C.L. and S.T.A. was
supported by the King Abdullah University of Science and
Technology (KAUST) through the baseline fund and the Award No.
FCC/1/1976–25 and REI/1/4446–01 from the Office of Sponsored
Research (OSR). N.K.’s laboratory is supported by KFSHRC seed
grants (RAC2120022), King Salman Center for Disability Research
(KSCDR#2180 004) and King Abdulaziz City for Science and
Technology (KACST#14-MED2007-20). T.S.B.’s laboratory is supported by the Netherlands Organization for Scientific Research
(ZonMw Veni, Grant 91617021), an Erasmus MC Fellowship 2017 and
Erasmus MC Human Disease Model Award 2018.

Access to Document

10.1093/brain/awab297Licence: CC BY-NC

awab297Final published version, 2.73 MBLicence: CC BY-NC

Cite this

Medico Salsench, E., Maroofian, R., Deng, R., Lanko, K., Nikoncuk, A., Pérez, B., Sánchez-Lijarcio, O., Ibáñez-Mico, S., Wojcik, A., Vargas, M., Abbas Al-Sannaa, N., Girgis, M. Y., Silveira, T. R. D., Bauer, P., Schroeder, A., Fong, C. T., Begtrup, A., Babaei, M., Toosi, M. B., ... Barakat, T. S. (2021). Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder. Brain, 144(10), Article e86. https://doi.org/10.1093/brain/awab297

@article{77f00f1c118a4a74801bb6ff0ccfefcb,

title = "Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder",

author = "\{Medico Salsench\}, Eva and Reza Maroofian and Ruizhi Deng and Kristina Lanko and Anita Nikoncuk and Bel{\'e}n P{\'e}rez and Obdulia S{\'a}nchez-Lijarcio and Salvador Ib{\'a}{\~n}ez-Mico and Antonina Wojcik and Marcelo Vargas and \{Abbas Al-Sannaa\}, Nouriya and Girgis, \{Marian Y.\} and Silveira, \{Tain{\'a} Regina Damaceno\} and Peter Bauer and Audrey Schroeder and Fong, \{Chin To\} and Amber Begtrup and Meisam Babaei and Toosi, \{Mehran Beiraghi\} and Farah Ashrafzadeh and Shima Imannezhad and Mohammad Doosti and Najmeh Ahangari and \{Najarzadeh Torbati\}, Paria and \{Ghayoor Karimiani\}, Ehsan and David Murphy and Elisa Cali and Kaya, \{Ibrahim H.\} and Mohammad Almuhaizea and Dilek Colak and Cardona-Londo{\~n}o, \{Kelly J.\} and Arold, \{Stefan T.\} and Henry Houlden and Aida Bertoli-Avella and Namik Kaya and Barakat, \{Tahsin Stefan\}",

note = "Funding: R.D. is supported by a China Scholarship Council (CSC) PhD Fellowship (201906300026) for her PhD studies at the Erasmus Medical Center, Rotterdam, the Netherlands. B.P. was funded by PI19/01155 and B2017/BMD-3721. The work by K.J.C.L. and S.T.A. was supported by the King Abdullah University of Science and Technology (KAUST) through the baseline fund and the Award No. FCC/1/1976–25 and REI/1/4446–01 from the Office of Sponsored Research (OSR). N.K.{\textquoteright}s laboratory is supported by KFSHRC seed grants (RAC2120022), King Salman Center for Disability Research (KSCDR\#2180 004) and King Abdulaziz City for Science and Technology (KACST\#14-MED2007-20). T.S.B.{\textquoteright}s laboratory is supported by the Netherlands Organization for Scientific Research (ZonMw Veni, Grant 91617021), an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.",

year = "2021",

month = oct,

doi = "10.1093/brain/awab297",

language = "English",

volume = "144",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

number = "10",

}

Medico Salsench, E, Maroofian, R, Deng, R, Lanko, K, Nikoncuk, A, Pérez, B, Sánchez-Lijarcio, O, Ibáñez-Mico, S, Wojcik, A, Vargas, M, Abbas Al-Sannaa, N, Girgis, MY, Silveira, TRD, Bauer, P, Schroeder, A, Fong, CT, Begtrup, A, Babaei, M, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Doosti, M, Ahangari, N, Najarzadeh Torbati, P, Ghayoor Karimiani, E, Murphy, D, Cali, E, Kaya, IH, Almuhaizea, M, Colak, D, Cardona-Londoño, KJ, Arold, ST, Houlden, H, Bertoli-Avella, A, Kaya, N & Barakat, TS 2021, 'Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder', Brain, vol. 144, no. 10, e86. https://doi.org/10.1093/brain/awab297

TY - JOUR

T1 - Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

AU - Medico Salsench, Eva

AU - Maroofian, Reza

AU - Deng, Ruizhi

AU - Lanko, Kristina

AU - Nikoncuk, Anita

AU - Pérez, Belén

AU - Sánchez-Lijarcio, Obdulia

AU - Ibáñez-Mico, Salvador

AU - Wojcik, Antonina

AU - Vargas, Marcelo

AU - Abbas Al-Sannaa, Nouriya

AU - Girgis, Marian Y.

AU - Silveira, Tainá Regina Damaceno

AU - Bauer, Peter

AU - Schroeder, Audrey

AU - Fong, Chin To

AU - Begtrup, Amber

AU - Babaei, Meisam

AU - Toosi, Mehran Beiraghi

AU - Ashrafzadeh, Farah

AU - Imannezhad, Shima

AU - Doosti, Mohammad

AU - Ahangari, Najmeh

AU - Najarzadeh Torbati, Paria

AU - Ghayoor Karimiani, Ehsan

AU - Murphy, David

AU - Cali, Elisa

AU - Kaya, Ibrahim H.

AU - Almuhaizea, Mohammad

AU - Colak, Dilek

AU - Cardona-Londoño, Kelly J.

AU - Arold, Stefan T.

AU - Houlden, Henry

AU - Bertoli-Avella, Aida

AU - Kaya, Namik

AU - Barakat, Tahsin Stefan

N1 - Funding: R.D. is supported by a China Scholarship Council (CSC) PhD Fellowship (201906300026) for her PhD studies at the Erasmus Medical Center, Rotterdam, the Netherlands. B.P. was funded by PI19/01155 and B2017/BMD-3721. The work by K.J.C.L. and S.T.A. was supported by the King Abdullah University of Science and Technology (KAUST) through the baseline fund and the Award No. FCC/1/1976–25 and REI/1/4446–01 from the Office of Sponsored Research (OSR). N.K.’s laboratory is supported by KFSHRC seed grants (RAC2120022), King Salman Center for Disability Research (KSCDR#2180 004) and King Abdulaziz City for Science and Technology (KACST#14-MED2007-20). T.S.B.’s laboratory is supported by the Netherlands Organization for Scientific Research (ZonMw Veni, Grant 91617021), an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

PY - 2021/10

Y1 - 2021/10

UR - https://www.scopus.com/pages/publications/85121122208

U2 - 10.1093/brain/awab297

DO - 10.1093/brain/awab297

M3 - Article

C2 - 34373908

AN - SCOPUS:85121122208

SN - 0006-8950

VL - 144

JO - Brain

JF - Brain

IS - 10

M1 - e86

ER -

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Bibliographical note

Access to Document

Other files and links

Cite this