E-LIB Suche - Ergebnisse für: Pagnamenta, Alistair T.

1

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/..

2

Reticulon 2 deficiency results in an autosomal recessive di..:

Maroofian, Reza ; Sarraf, Payam ; O'Brien, Thomas J...
Brain. , 2024

Link: https://doi.org/10.1093/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

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

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

15

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/..