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Pagnamenta, Alistair, T
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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