Personal information

France

Activities

Employment (10)

Université de Paris: Paris, Île-de-France, FR

2015-11 to present | Teacher (Faculty of Medicine)
Employment
Source: Self-asserted source
Yoann Vial

Hôpital Universitaire Robert-Debré: Paris, Île-de-France, FR

2015-11 to present | Clinical Biologist (Molecular Genetic)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2014-11 to 2015-10 | Resident (Molecular Genetic)
Employment
Source: Self-asserted source
Yoann Vial

Hôpital Universitaire Robert-Debré: Paris, Île-de-France, FR

2013-11 to 2014-10 | Research Grant (Molecular Genetic)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2013-05 to 2013-10 | Resident (Cytogenetic)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2012-11 to 2013-04 | Resident (Molecular Genetic)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2012-05 to 2012-10 | Resident (Immunology)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2011-11 to 2012-04 | Resident (Hematology)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2011-05 to 2011-10 | Resident (Microbiology)
Employment
Source: Self-asserted source
Yoann Vial

Centre Hospitalier Universitaire de Rouen: Rouen, Haute-Normandie, FR

2010-11 to 2011-04 | Resident (Biochemistry)
Employment
Source: Self-asserted source
Yoann Vial

Education and qualifications (7)

Université de Paris: Paris, Île-de-France, FR

2016-12-15 to 2021-12-10 | PhD (Hematology)
Education
Source: Self-asserted source
Yoann Vial

Université de Rouen Faculté de Médecine et Pharmacie: Rouen, Normandie, FR

2010 to 2015 | PharmD (Pharmacy)
Education
Source: Self-asserted source
Yoann Vial

Université de Rouen Faculté de Médecine et Pharmacie: Rouen, Normandie, FR

2010 to 2015 | Certification (Clinical Biology)
Education
Source: Self-asserted source
Yoann Vial

Université Paris Descartes: Paris, Île-de-France, FR

2013 to 2014 | Research Master (M2R) (Genetic)
Education
Source: Self-asserted source
Yoann Vial

Université Pierre et Marie Curie: Paris, Île-de-France, FR

2011 to 2012 | Certificate (Statistic)
Education
Source: Self-asserted source
Yoann Vial

Université Paris Descartes: Paris, Île-de-France, FR

2004 to 2010 (Pharmacy)
Education
Source: Self-asserted source
Yoann Vial

Université Paris Descartes: Paris, Île-de-France, FR

2006 to 2007 | Master 1 (Genetic)
Education
Source: Self-asserted source
Yoann Vial

Works (26)

Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis

EMBO Reports
2024-04-11 | Journal article
Contributors: Yoann Vial; Jeannette Nardelli; Adeline A Bonnard; Justine Rousselot; Michèle Souyri; Pierre Gressens; Hélène Cavé; Séverine Drunat
Source: check_circle
Crossref

Expanding the phenotype of GTF2E2‐associated trichothiodystrophy

Journal of the European Academy of Dermatology and Venereology
2024-03 | Journal article
Contributors: Brian Sperelakis‐Beedham; Lyse Ruaud; Yoann Vial; Myriam Rachid; Faustine Ageorges; Louise Goujon; Alain Verloes; Anne‐Claude Tabet; Emmanuelle Bourrat; Jonathan Lévy
Source: check_circle
Crossref

Partitioning for Easy Multiplexing

The Journal of Molecular Diagnostics
2023-08 | Journal article
Contributors: Alexia Kinoo; Aurélie Caye-Eude; Yoann Vial; Hélène Cavé; Chloé Arfeuille
Source: check_circle
Crossref

Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia

Pediatric Blood & Cancer
2023-04 | Journal article
Contributors: Sarah Faggetter; Alina Ferster; Laurence Dedeken; Anne Demulder; Ludvine David‐Nguyen; Odile Fenneteau; Melanie Parisot; Patrick Nitschke; Yoann Vial; Lydie Da Costa
Source: check_circle
Crossref

De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia

British Journal of Haematology
2022-12 | Journal article
Contributors: Yoann Vial; Elodie Lainey; Thierry Leblanc; Véronique Baudouin; Marie Emilie Dourthe; Pierre Gressens; Alain Verloes; Hélène Cavé; Séverine Drunat
Source: check_circle
Crossref

First clinical description of a pedigree with complete <i>NAF1</i> deletion.

Leukemia & lymphoma
2022-11 | Journal article
Contributors: Galtier J; Dimicoli-Salazar S; Trimouille A; Lainey E; Revy P; Bidet A; Vial Y; Forcade E; Negrier-Leibreich ML; Rivière E et al.
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.

Human genetics
2022-09 | Journal article
Contributors: Vezain M; Thauvin-Robinet C; Vial Y; Coutant S; Drunat S; Urtizberea JA; Rolland A; Jacquin-Piques A; Fehrenbach S; Nicolas G et al.
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Human molecular genetics
2022-08 | Journal article
Contributors: Motta M; Solman M; Bonnard AA; Kuechler A; Pantaleoni F; Priolo M; Chandramouli B; Coppola S; Pizzi S; Zara E et al.
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

European Journal of Human Genetics
2021-03-20 | Journal article
Contributors: Julia Brinkmann; Christina Lissewski; Valentina Pinna; Yoann Vial; Francesca Pantaleoni; Francesca Lepri; Paola Daniele; Birute Burnyte; Goran Cuturilo; Christine Fauth et al.
Source: check_circle
Crossref

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

BMC musculoskeletal disorders
2020-08 | Journal article
Contributors: Morice A; Joly A; Ricquebourg M; Maruani G; Durand E; Galmiche L; Amiel J; Vial Y; Cavé H; Belhous K et al.
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.

Journal of pediatric hematology/oncology
2020-08 | Journal article
Contributors: Beauvais D; Cabannes-Hamy A; Leblanc T; Dhédin N; Magda A; Cuccuini W; Clappier E; Vial Y; Boissel N
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.

European journal of human genetics : EJHG
2020-08 | Journal article
Contributors: Lissewski C; Chune V; Pantaleoni F; De Luca A; Capri Y; Brinkmann J; Lepri F; Daniele P; Leenders E; Mazzanti L et al.
Source: Self-asserted source
Yoann Vial via Europe PubMed Central

Hypophosphatemic rickets: A rare complication of congenital melanocytic nevus syndrome

Pediatric Dermatology
2020-05 | Journal article
Contributors: Anne Welfringer‐Morin; Graziella Pinto; Geneviève Baujat; Yoann Vial; Smail Hadj‐Rabia; Christine Bodemer; Olivia Boccara
Source: check_circle
Crossref

Long-term Metabolic and Socioeducational Outcomes of Transient Neonatal Diabetes: A Longitudinal and Cross-sectional Study.

Diabetes care
2020-04-09 | Journal article
Source: Self-asserted source
Yoann Vial

Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways

Human Mutation
2020-02-27 | Journal article
Contributors: Sarah Duerinckx; Valérie Jacquemin; Séverine Drunat; Yoann Vial; Sandrine Passemard; Camille Perazzolo; Annick Massart; Julie Soblet; Judith Racapé; Laurence Desmyter et al.
Source: check_circle
Crossref

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics
2019 | Journal article
EID:

2-s2.0-85066434161

Contributors: Capri, Y.; Flex, E.; Krumbach, O.H.F.; Carpentieri, G.; Cecchetti, S.; Lißewski, C.; Rezaei Adariani, S.; Schanze, D.; Brinkmann, J.; Piard, J. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients

British Journal of Dermatology
2019 | Journal article
EID:

2-s2.0-85054296684

Contributors: Bessis, D.; Morice-Picard, F.; Bourrat, E.; Abadie, C.; Aouinti, S.; Baumann, C.; Best, M.; Bursztejn, A.-C.; Capri, Y.; Chiaverini, C. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

British Journal of Dermatology
2019 | Journal article
EID:

2-s2.0-85060216845

Contributors: Bessis, D.; Miquel, J.; Bourrat, E.; Chiaverini, C.; Morice-Picard, F.; Abadie, C.; Manna, F.; Baumann, C.; Best, M.; Blanchet, P. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

European Journal of Medical Genetics
2019 | Journal article
EID:

2-s2.0-85067639001

Contributors: Uwineza, A.; Caberg, J.-H.; Hitayezu, J.; Wenric, S.; Mutesa, L.; Vial, Y.; Drunat, S.; Passemard, S.; Verloes, A.; El Ghouzzi, V. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

Mcph1, Mutated in Primary Microcephaly, Is Required to Complete Terminal Erythroid Differentiation

Blood
2019-11-13 | Journal article
Part of ISSN: 0006-4971
Part of ISSN: 1528-0020
Source: Self-asserted source
Yoann Vial

Autosomal recessive primary microcephaly due to ASPM mutations: An update

Human Mutation
2018 | Journal article
EID:

2-s2.0-85040662039

Contributors: Létard, P.; Drunat, S.; Vial, Y.; Duerinckx, S.; Ernault, A.; Amram, D.; Arpin, S.; Bertoli, M.; Busa, T.; Ceulemans, B. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 4)‎

Down syndrome-like acute megakaryoblastic Leukemia in a patient with cornelia de lange syndrome

Haematologica
2018 | Journal article
EID:

2-s2.0-85048031111

Contributors: Vial, Y.; Lachenaud, J.; Verloes, A.; Besnard, M.; Fenneteau, O.; Lainey, E.; Marceau-Renaut, A.; Preudhomme, C.; Baruchel, A.; Cavé, H. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

INTU-related oral-facial-digital syndrome type VI: A confirmatory report

Clinical Genetics
2018 | Journal article
EID:

2-s2.0-85044934616

Contributors: Bruel, A.-L.; Levy, J.; Elenga, N.; Defo, A.; Favre, A.; Lucron, H.; Capri, Y.; Perrin, L.; Passemard, S.; Vial, Y. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

European Journal of Medical Genetics
2018 | Journal article
EID:

2-s2.0-85058702309

Contributors: Bhoj, E.J.; Haye, D.; Toutain, A.; Bonneau, D.; Nielsen, I.K.; Lund, I.B.; Bogaard, P.; Leenskjold, S.; Karaer, K.; Wild, K.T. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

American Journal of Medical Genetics, Part A
2017 | Journal article
EID:

2-s2.0-85018731051

Contributors: Poli, A.; Vial, Y.; Haye, D.; Passemard, S.; Schiff, M.; Nasser, H.; Delanoe, C.; Cuadro, E.; Kom, R.; Elanga, N. et al.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎

In vitro influence of fatty acids and bilirubin on binding of mycophenolic acid to human serum albumin

Journal of Pharmaceutical and Biomedical Analysis
2011 | Journal article
EID:

2-s2.0-78149500310

Contributors: Vial, Y.; Tod, M.; Hornecker, M.; Urien, S.; Conti, F.; Dauphin, A.; Calmus, Y.; Blanchet, B.
Source: Self-asserted source
Yoann Vial via Scopus - Elsevier
grade
Preferred source (of 2)‎