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Quenez, Olivier
106  results:
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1

Upstream open reading frame-introducing variants in patient..:

Rovelet-Lecrux, Anne ; Bonnevalle, Antoine ; Quenez, Olivier...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

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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3

How local reference panels improve imputation in French pop..:

Herzig, Anthony F. ; Velo‐Suárez, Lourdes ; Campion, Dominique...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

Assessment of Mendelian and risk-factor genes in Alzheimer ..:

Nicolas, Gaël ; Zaréa, Aline ; Lacour, Morgane...
Genetics in Medicine.  26 (2024)  5 - p. 101082 , 2024
Link: https://doi.org/10.1016/..
 
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5

High diagnostic potential of short and long read genome seq..:

Lecoquierre, François ; Quenez, Olivier ; Fourneaux, Steeve...
Human Genetics.  142 (2023)  6 - p. 773-783 , 2023
Link: https://doi.org/10.1007/..
 
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6

Exome sequencing identifies rare damaging variants in ATP8B..:

Holstege, Henne ; Hulsman, Marc ; Charbonnier, Camille...
Nature Genetics.  54 (2022)  12 - p. 1786-1794 , 2022
Link: https://doi.org/10.1038/..
 
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7

uORF‐introducing variants in the 5′UTR of theNIPBLgene as a..:

Coursimault, Juliette ; Rovelet‐Lecrux, Anne ; Cassinari, Kévin...
Human Mutation.  43 (2022)  9 - p. 1239-1248 , 2022
Link: https://doi.org/10.1002/..
 
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8

Deep intronicNIPBL de novomutations and differential diagno..:

Coursimault, Juliette ; Cassinari, Kévin ; Lecoquierre, François...
Human Mutation.  43 (2022)  12 - p. 1882-1897 , 2022
Link: https://doi.org/10.1002/..
 
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9

SPiP: Splicing Prediction Pipeline, a machine learning tool..:

Leman, Raphaël ; Parfait, Béatrice ; Vidaud, Dominique...
Human Mutation.  43 (2022)  12 - p. 2308-2323 , 2022
Link: https://doi.org/10.1002/..
 
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10

Impaired SorLA maturation and trafficking as a new mechanis..:

Rovelet-Lecrux, Anne ; Feuillette, Sebastien ; Miguel, Laetitia...
Acta Neuropathologica Communications.  9 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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11

Clinical and neuropathological diversity of tauopathy in MA..:

Wallon, David ; Boluda, Susana ; Rovelet-Lecrux, Anne...
Acta Neuropathologica.  142 (2021)  2 - p. 259-278 , 2021
Link: https://doi.org/10.1007/..
 
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12

Detection of copy-number variations from NGS data using rea..:

FREX Consortium ; Quenez, Olivier ; Cassinari, Kevin...
European Journal of Human Genetics.  29 (2020)  1 - p. 99-109 , 2020
Link: https://doi.org/10.1038/..
 
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13

SORL1‐variant carriers in ADES‐ADSP: A higher level of vari..:

Holstege, Henne ; Hulsman, Marc ; Charbonnier, Camille...
Alzheimer's & Dementia.  16 (2020)  S2 - p. , 2020
Link: https://doi.org/10.1002/..
 
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14

Phenotypes associated with MAPT duplications: Genetics/gene..:

Wallon, David ; Bonnevalle, Antoine ; Rovelet‐Lecrux, Anne...
Alzheimer's & Dementia.  16 (2020)  S3 - p. , 2020
Link: https://doi.org/10.1002/..
 
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15

Rare genetic susceptibility variants assessment in autism s..:

Husson, Thomas ; Lecoquierre, François ; Cassinari, Kevin...
Translational Psychiatry.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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