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Lecoquierre, François
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1

Assessment of parental mosaicism rates in neurodevelopmenta..:

Lecoquierre, François ; Cassinari, Kévin ; Drouot, Nathalie...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

A recurrent missense variant in the E3 ubiquitin ligase sub..:

Lecoquierre, François ; Punt, A. Mattijs ; Ebstein, Frédéric...
Genetics in Medicine.  26 (2024)  6 - p. 101119 , 2024
Link: https://doi.org/10.1016/..
 
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3

Molecular and Phenotypic Characterization of theRORB-Relate..:

Gokce-Samar, Zeynep ; Vetro, Annalisa ; De Bellescize, Julitta...
Neurology.  102 (2024)  2 - p. , 2024
Link: https://doi.org/10.1212/..
 
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4

Model matchmaking via the Solve-RD Rare Disease Models & Me..:

Ellwanger, Kornelia ; Brill, Julie A. ; de Boer, Elke...
Lab Animal.  53 (2024)  7 - p. 161-165 , 2024
Link: https://doi.org/10.1038/..
 
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5

Variants in ZFX are associated with an X-linked neurodevelo..:

Shepherdson, James L. ; Hutchison, Katie ; Don, Dilan Wellalage...
The American Journal of Human Genetics.  111 (2024)  3 - p. 487-508 , 2024
Link: https://doi.org/10.1016/..
 
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6

Penetrance, variable expressivity and monogenic neurodevelo..:

de Masfrand, Servane ; Cogné, Benjamin ; Nizon, Mathilde...
European Journal of Medical Genetics.  69 (2024)  - p. 104932 , 2024
Link: https://doi.org/10.1016/..
 
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7

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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8

The clinical and molecular spectrum of the KDM6B-related ne..:

Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal...
The American Journal of Human Genetics.  110 (2023)  6 - p. 963-978 , 2023
Link: https://doi.org/10.1016/..
 
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9

Evaluation of Analytical and Clinical Performance and Usefu..:

Moisan, Alice ; Soares, Anaïs ; De Oliveira, Fabienne...
Viruses.  15 (2023)  5 - p. 1115 , 2023
Link: https://doi.org/10.3390/..
 
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10

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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11

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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12

Genome Alert!: A standardized procedure for genomic variant..:

Yauy, Kevin ; Lecoquierre, François ; Baert-Desurmont, Stéphanie...
Genetics in Medicine.  24 (2022)  6 - p. 1316-1327 , 2022
Link: https://doi.org/10.1016/..
 
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13

Retrotransposon insertion as a novel mutational cause of sp..:

Vezain, Myriam ; Thauvin-Robinet, Christel ; Vial, Yoann...
Human Genetics.  142 (2022)  1 - p. 125-138 , 2022
Link: https://doi.org/10.1007/..
 
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14

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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15

Variants in CLDN5 cause a syndrome characterized by seizure..:

Deshwar, Ashish R ; Cytrynbaum, Cheryl ; Murthy, Harsha...
Brain.  146 (2022)  6 - p. 2285-2297 , 2022
Link: https://doi.org/10.1093/..
 
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