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Richard, Anne-Claire
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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

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

Rovelet-Lecrux, Anne ; Bonnevalle, Antoine ; Quenez, Olivier...
European Journal of Human Genetics.  32 (2024)  7 - p. 779-785 , 2024
Link: https://doi.org/10.1038/..
 
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3

Assessment of the transcriptomic consequences and MAU2 prot..:

Cassinari, Kévin ; Rovelet-Lecrux, Anne ; Derambure, Céline...
Genes & Diseases.  , 2024
Link: https://doi.org/10.1016/..
 
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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

Episignatures in practice: independent evaluation of publis..:

Husson, Thomas ; Lecoquierre, François ; Nicolas, Gaël...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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6

A postzygotic de novo NCDN mutation identified in a sporadi..:

Nicolas, Gaël ; Sévigny, Myriam ; Lecoquierre, François...
Acta Neuropathologica Communications.  10 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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7

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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8

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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9

Biallelic MYORG mutation carriers exhibit primary brain cal..:

Grangeon, Lou ; Wallon, David ; Charbonnier, Camille...
Brain.  142 (2019)  6 - p. 1573-1586 , 2019
Link: https://doi.org/10.1093/..
 
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10

Characterization of XPR1/SLC53A1 variants located outside o..:

López-Sánchez, Uriel ; Nicolas, Gaël ; Richard, Anne-Claire...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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11

Identification of potential genetic risk factors for bipola..:

Husson, Thomas ; Duboc, Jean-Baptiste ; Quenez, Olivier...
Translational Psychiatry.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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12

Primary brain calcification: an international study reporti..:

The French PFBC study group ; Ramos, Eliana Marisa ; Carecchio, Miryam...
European Journal of Human Genetics.  26 (2018)  10 - p. 1462-1477 , 2018
Link: https://doi.org/10.1038/..
 
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13

APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer di..:

Lanoiselée, Hélène-Marie ; Nicolas, Gaël ; Wallon, David...
PLOS Medicine.  14 (2017)  3 - p. e1002270 , 2017
Link: https://doi.org/10.1371/..
 
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14

TYROBP genetic variants in early-onset Alzheimer's disease:

Pottier, Cyril ; Ravenscroft, Thomas A. ; Brown, Patricia H....
Neurobiology of Aging.  48 (2016)  - p. 222.e9-222.e15 , 2016
Link: https://doi.org/10.1016/..
 
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15

Identification of partial SLC20A2 deletions in primary brai..:

David, Stéphanie ; Ferreira, Joana ; Quenez, Olivier...
European Journal of Human Genetics.  24 (2016)  11 - p. 1630-1634 , 2016
Link: https://doi.org/10.1038/..
 
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