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Vial, Yoann
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1

Mcph1, mutated in primary microcephaly, is also crucial for..:

Vial, Yoann ; Nardelli, Jeannette ; Bonnard, Adeline A...
EMBO Reports.  25 (2024)  5 - p. 2418-2440 , 2024
Link: https://doi.org/10.1038/..
 
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2

Dermatological manifestations in Costello syndrome: A prosp..:

Bessis, Didier ; Bursztejn, Anne‐Claire ; Morice‐Picard, Fanny...
Journal of the European Academy of Dermatology and Venereology.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Expanding the phenotype of GTF2E2‐associated trichothiodyst..:

Sperelakis‐Beedham, Brian ; Ruaud, Lyse ; Vial, Yoann...
Journal of the European Academy of Dermatology and Venereology.  38 (2023)  3 - p. , 2023
Link: https://doi.org/10.1111/..
 
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4

Pediatric Tumors and Developmental Anomalies: A French Nati..:

Semeraro, Michaela ; Fouquet, Cyrielle ; Vial, Yoann...
The Journal of Pediatrics.  259 (2023)  - p. 113451 , 2023
Link: https://doi.org/10.1016/..
 
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5

Early treatment of neonatal diabetes with oral glibenclamid..:

Galderisi, Alfonso ; Kermorvant‐Duchemin, Elsa ; Daruich, Alejandra...
JIMD Reports.  64 (2023)  2 - p. 161-166 , 2023
Link: https://doi.org/10.1002/..
 
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6

Germline bi-allelic SH2B3/LNK alteration predisposes to a n..:

Arfeuille, Chloé ; Vial, Yoann ; Cadenet, Margaux...
Haematologica.  , 2023
Link: https://doi.org/10.3324/..
 
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7

Partitioning for Easy Multiplexing:

Kinoo, Alexia ; Caye-Eude, Aurélie ; Vial, Yoann..
The Journal of Molecular Diagnostics.  25 (2023)  8 - p. 592-601 , 2023
Link: https://doi.org/10.1016/..
 
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8

Hereditary spherocytosis associated with Noonan syndrome mi..:

Faggetter, Sarah ; Ferster, Alina ; Dedeken, Laurence...
Pediatric Blood & Cancer.  70 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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9

Expanding the molecular spectrum of pathogenicSHOC2variants..:

Motta, Marialetizia ; Solman, Maja ; Bonnard, Adeline A...
Human Molecular Genetics.  31 (2022)  16 - p. 2766-2778 , 2022
Link: https://doi.org/10.1093/..
 
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10

De novo NUF2 variant in a novel inherited bone marrow failu..:

Vial, Yoann ; Lainey, Elodie ; Leblanc, Thierry...
British Journal of Haematology.  199 (2022)  5 - p. 739-743 , 2022
Link: https://doi.org/10.1111/..
 
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11

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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12

Variants of SOS2 are a rare cause of Noonan syndrome with p..:

Lissewski, Christina ; Chune, Valérie ; Pantaleoni, Francesca...
European Journal of Human Genetics.  29 (2020)  1 - p. 51-60 , 2020
Link: https://doi.org/10.1038/..
 
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13

The clinical significance of A2ML1 variants in Noonan syndr..:

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina...
European Journal of Human Genetics.  29 (2020)  3 - p. 524-527 , 2020
Link: https://doi.org/10.1038/..
 
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14

Hypophosphatemic rickets: A rare complication of congenital..:

Welfringer‐Morin, Anne ; Pinto, Graziella ; Baujat, Geneviève...
Pediatric Dermatology.  37 (2020)  3 - p. 541-544 , 2020
Link: https://doi.org/10.1111/..
 
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15

Cherubism as a systemic skeletal disease: evidence from an ..:

Morice, Anne ; Joly, Aline ; Ricquebourg, Manon...
BMC Musculoskeletal Disorders.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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