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Vezain, Myriam
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1

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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2

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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3

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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4

Next-Generation Molecular Investigations in Lysosomal Disea..:

Sudrié-Arnaud, Bénédicte ; Snanoudj, Sarah ; Dabaj, Ivana...
Diagnostics.  11 (2021)  2 - p. 294 , 2021
Link: https://doi.org/10.3390/..
 
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5

Neuropathological hallmarks of fetal hydrocephalus linked t..:

Marguet, Florent ; Vezain, Myriam ; Marcorelles, Pascale...
Acta Neuropathologica Communications.  9 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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6

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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7

Pontocerebellar hypoplasia with rhombencephalosynapsis and ..:

Saugier-Veber, Pascale ; Marguet, Florent ; Vezain, Myriam...
European Journal of Medical Genetics.  63 (2020)  4 - p. 103814 , 2020
Link: https://doi.org/10.1016/..
 
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8

Metabolic causes of nonimmune hydrops fetalis: A next-gener..:

Sudrié-Arnaud, Bénédicte ; Marguet, Florent ; Patrier, Sophie...
Clinica Chimica Acta.  481 (2018)  - p. 1-8 , 2018
Link: https://doi.org/10.1016/..
 
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9

A de novo variant in ADGRL2 suggests a novel mechanism unde..:

Vezain, Myriam ; Lecuyer, Matthieu ; Rubio, Marina...
Acta Neuropathologica Communications.  6 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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10

Optimization of the diagnosis of inherited colorectal cance..:

Baert-Desurmont, Stéphanie ; Coutant, Sophie ; Charbonnier, Françoise...
European Journal of Human Genetics.  26 (2018)  11 - p. 1597-1602 , 2018
Link: https://doi.org/10.1038/..
 
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11

The oculoauriculofrontonasal syndrome: Further clinical cha..:

Lehalle, Daphné ; Altunoglu, Umut ; Bruel, Ange‐Line...
American Journal of Medical Genetics Part A.  176 (2018)  12 - p. 2740-2750 , 2018
Link: https://doi.org/10.1002/..
 
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12

Development, analytical validation and implementation of a ..:

Bekri, Soumeya ; Sudrié-Arnaud, Bénédicte ; Charbonnier, Françoise...
Molecular Genetics and Metabolism.  120 (2017)  1-2 - p. S26 , 2017
Link: https://doi.org/10.1016/..
 
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13

Familial solitary chondrosarcoma resulting from germline EX..:

Heddar, Abdelkader ; Fermey, Pierre ; Coutant, Sophie...
Genes, Chromosomes and Cancer.  56 (2016)  2 - p. 128-134 , 2016
Link: https://doi.org/10.1002/..
 
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14

Clinical and pathologic features of Aicardi–Goutières syndr..:

Marguet, Florent ; Laquerrière, Annie ; Goldenberg, Alice...
American Journal of Medical Genetics Part A.  170 (2016)  5 - p. 1317-1324 , 2016
Link: https://doi.org/10.1002/..
 
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15

Germline Mutations of Inhibins in Early‐Onset Ovarian Epith..:

Tournier, Isabelle ; Marlin, Régine ; Walton, Kelly...
Human Mutation.  35 (2013)  3 - p. 294-297 , 2013
Link: https://doi.org/10.1002/..
 
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