THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly; Bogdan V. Polevoda; Kamel M. Awayda; Ning Tong; Jenna Lentini; Thomas Besnard; Wallid Deb; D O’Rourke; Julia Baptista; Sian Ellard; Mohammed Almannai; Mais Hashem; Ferdous Abdulwahab; Hanan Shamseldin; Saeed Al-Tala; Fowzan S. Alkuraya; Alberta Leon; Loon RLE van; Alessandra Ferlini; Mariabeatrice Sanchini; Stefania Bigoni; Andrea Ciorba; Bokhoven H van; Zafar Iqbal; Almundher Al-Maawali; Fathiya Al-Murshedi; Anuradha Ganesh; Watfa Al-Mamari; Sze Chern Lim; Lynn S. Pais; Natasha Brown; Saima Riazuddin; Stéphane Bézieau; Dragony Fu; Bertrand Isidor; Benjamin Cogné; MR O’Connell

doi:10.1016/j.ajhg.2022.02.001

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan V. Polevoda, Kamel M. Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, D O’Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S. Alkuraya, Alberta Leon, Loon RLE van, Alessandra Ferlini, Mariabeatrice SanchiniStefania Bigoni, Andrea Ciorba, Bokhoven H van, Zafar Iqbal, Almundher Al-Maawali, Fathiya Al-Murshedi, Anuradha Ganesh, Watfa Al-Mamari, Sze Chern Lim, Lynn S. Pais, Natasha Brown, Saima Riazuddin, Stéphane Bézieau, Dragony Fu, Bertrand Isidor, Benjamin Cogné^*, MR O’Connell

^*Corresponding author for this work

Peninsula Medical School

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

Original language	English
Pages (from-to)	587-600
Number of pages	0
Journal	The American Journal of Human Genetics
Volume	109
Issue number	4
DOIs	https://doi.org/10.1016/j.ajhg.2022.02.001
Publication status	Published - Apr 2022

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Cite this

Broly, M., Polevoda, B. V., Awayda, K. M., Tong, N., Lentini, J., Besnard, T., Deb, W., O’Rourke, D., Baptista, J., Ellard, S., Almannai, M., Hashem, M., Abdulwahab, F., Shamseldin, H., Al-Tala, S., Alkuraya, F. S., Leon, A., van, L. RLE., Ferlini, A., ... O’Connell, MR. (2022). THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(4), 587-600. https://doi.org/10.1016/j.ajhg.2022.02.001

@article{848febcffacf4cab86ab29f396baa4f4,

title = "THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder",

author = "Martin Broly and Polevoda, {Bogdan V.} and Awayda, {Kamel M.} and Ning Tong and Jenna Lentini and Thomas Besnard and Wallid Deb and D O{\textquoteright}Rourke and Julia Baptista and Sian Ellard and Mohammed Almannai and Mais Hashem and Ferdous Abdulwahab and Hanan Shamseldin and Saeed Al-Tala and Alkuraya, {Fowzan S.} and Alberta Leon and van, {Loon RLE} and Alessandra Ferlini and Mariabeatrice Sanchini and Stefania Bigoni and Andrea Ciorba and van, {Bokhoven H} and Zafar Iqbal and Almundher Al-Maawali and Fathiya Al-Murshedi and Anuradha Ganesh and Watfa Al-Mamari and Lim, {Sze Chern} and Pais, {Lynn S.} and Natasha Brown and Saima Riazuddin and St{\'e}phane B{\'e}zieau and Dragony Fu and Bertrand Isidor and Benjamin Cogn{\'e} and MR O{\textquoteright}Connell",

year = "2022",

month = apr,

doi = "10.1016/j.ajhg.2022.02.001",

language = "English",

volume = "109",

pages = "587--600",

journal = "The American Journal of Human Genetics",

issn = "0002-9297",

number = "4",

}

Broly, M, Polevoda, BV, Awayda, KM, Tong, N, Lentini, J, Besnard, T, Deb, W, O’Rourke, D, Baptista, J, Ellard, S, Almannai, M, Hashem, M, Abdulwahab, F, Shamseldin, H, Al-Tala, S, Alkuraya, FS, Leon, A, van, LRLE, Ferlini, A, Sanchini, M, Bigoni, S, Ciorba, A, van, BH, Iqbal, Z, Al-Maawali, A, Al-Murshedi, F, Ganesh, A, Al-Mamari, W, Lim, SC, Pais, LS, Brown, N, Riazuddin, S, Bézieau, S, Fu, D, Isidor, B, Cogné, B & O’Connell, MR 2022, 'THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder', The American Journal of Human Genetics, vol. 109, no. 4, pp. 587-600. https://doi.org/10.1016/j.ajhg.2022.02.001

TY - JOUR

T1 - THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

AU - Broly, Martin

AU - Polevoda, Bogdan V.

AU - Awayda, Kamel M.

AU - Tong, Ning

AU - Lentini, Jenna

AU - Besnard, Thomas

AU - Deb, Wallid

AU - O’Rourke, D

AU - Baptista, Julia

AU - Ellard, Sian

AU - Almannai, Mohammed

AU - Hashem, Mais

AU - Abdulwahab, Ferdous

AU - Shamseldin, Hanan

AU - Al-Tala, Saeed

AU - Alkuraya, Fowzan S.

AU - Leon, Alberta

AU - van, Loon RLE

AU - Ferlini, Alessandra

AU - Sanchini, Mariabeatrice

AU - Bigoni, Stefania

AU - Ciorba, Andrea

AU - van, Bokhoven H

AU - Iqbal, Zafar

AU - Al-Maawali, Almundher

AU - Al-Murshedi, Fathiya

AU - Ganesh, Anuradha

AU - Al-Mamari, Watfa

AU - Lim, Sze Chern

AU - Pais, Lynn S.

AU - Brown, Natasha

AU - Riazuddin, Saima

AU - Bézieau, Stéphane

AU - Fu, Dragony

AU - Isidor, Bertrand

AU - Cogné, Benjamin

AU - O’Connell, MR

PY - 2022/4

Y1 - 2022/4

U2 - 10.1016/j.ajhg.2022.02.001

DO - 10.1016/j.ajhg.2022.02.001

M3 - Article

SN - 0002-9297

VL - 109

SP - 587

EP - 600

JO - The American Journal of Human Genetics

JF - The American Journal of Human Genetics

IS - 4

ER -