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Pagnamenta, Alistair, T
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Online (265)
Mediatypes
Articles (Online) (85)
OpenAccess-fulltext (179)
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1
Biallelic NAA60 variants with impaired N-terminal acetylati..:
Chelban, Viorica
;
Aksnes, Henriette
;
Maroofian, Reza
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
2
The impact of inversions across 33,924 families with rare d..:
Pagnamenta, Alistair T.
;
Yu, Jing
;
Walker, Susan
...
The American Journal of Human Genetics. 111 (2024) 6 - p. 1140-1164 , 2024
Link:
https://doi.org/10.1016/..
?
3
RTN2 deficiency results in an autosomal recessive distal mo..:
Maroofian, Reza
;
Sarraf, Payam
;
O'Brien, Thomas J
...
Brain. 147 (2024) 7 - p. 2334-2343 , 2024
Link:
https://doi.org/10.1093/..
?
4
The prevalence and phenotypic range associated with biallel..:
Pagnamenta, Alistair T.
;
Belles, Rebecca S.
;
Salbert, Bonnie Anne
...
Clinical Genetics. 104 (2023) 1 - p. 121-126 , 2023
Link:
https://doi.org/10.1111/..
?
5
Pure cerebellar ataxia due to bi‐allelic PRDX3 variants inc..:
Efthymiou, Stephanie
;
Novis, Luiz E.
;
Koutsis, Georgios
...
Annals of Clinical and Translational Neurology. 10 (2023) 10 - p. 1910-1916 , 2023
Link:
https://doi.org/10.1002/..
?
6
CUX1-related neurodevelopmental disorder: deep insights int..:
Oppermann, Henry
;
Marcos-Grañeda, Elia
;
Weiss, Linnea A.
...
European Journal of Human Genetics. 31 (2023) 11 - p. 1251-1260 , 2023
Link:
https://doi.org/10.1038/..
?
7
Lunapark deficiency leads to an autosomal recessive neurode..:
Accogli, Andrea
;
Zaki, Maha S
;
Al-Owain, Mohammed
...
Brain Communications. , 2023
Link:
https://doi.org/10.1093/..
?
8
Biallelic NUDT2 variants defective in mRNA decapping cause ..:
Husain, Ralf A
;
Jiao, Xinfu
;
Hennings, J Christopher
...
Brain. 147 (2023) 4 - p. 1197-1205 , 2023
Link:
https://doi.org/10.1093/..
?
9
AMFR dysfunction causes autosomal recessive spastic paraple..:
Deng, Ruizhi
;
Medico-Salsench, Eva
;
Nikoncuk, Anita
...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023
Link:
https://doi.org/10.1007/..
?
10
Genome sequencing identifies KMT2E‐disrupting cryptic struc..:
Hashim, Mona
;
Stewart, Helen
;
Yu, Jing
...
Clinical Genetics. 104 (2023) 3 - p. 390-392 , 2023
Link:
https://doi.org/10.1111/..
?
11
Biallelic variants in PIGN cause Fryns syndrome, multiple c..:
Loong, Lucy
;
Tardivo, Agostina
;
Knaus, Alexej
...
Genetics in Medicine. 25 (2023) 1 - p. 37-48 , 2023
Link:
https://doi.org/10.1016/..
?
12
A Palindrome-Like Structure on 16p13.3 Is Associated with t..:
Pagnamenta, Alistair T.
;
Yu, Jing
;
Willis, Tracey A.
...
Human Mutation. 2023 (2023) - p. 1-9 , 2023
Link:
https://doi.org/10.1155/..
?
13
Structural and non-coding variants increase the diagnostic ..:
Pagnamenta, Alistair T.
;
Camps, Carme
;
Giacopuzzi, Edoardo
...
Genome Medicine. 15 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
14
Use of genome sequencing to hunt for cryptic second-hit var..:
Moore, A Rachel
;
Yu, Jing
;
Pei, Yang
...
Journal of Medical Genetics. 60 (2023) 12 - p. 1235-1244 , 2023
Link:
https://doi.org/10.1136/..
?
15
Brain monoamine vesicular transport disease caused by homoz..:
Saida, Ken
;
Maroofian, Reza
;
Sengoku, Toru
...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023
Link:
https://doi.org/10.1016/..
1-15