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 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

^*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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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",

publisher = "Cell Press",

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

UR - https://pearl.plymouth.ac.uk/pms-research/1638/

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 -

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

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