Mr DUFFOURD Yannis

Fiche personne


coordonnées

Laboratoire de Génomique Médicale - UF6254
Equipe GAD
15 Boulevard Maréchal de Lattre de Tassigny
21000 DIJON

03 80 39 66 59

yannis.duffourd@u-bourgogne.fr

Territoire

Bourgogne

Statut

Ingénieur/Technicien

Publications


Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.

Mazel B, Mallet D, Roucher-Boulez F, Signor CB, Bournez M, Darmency V, Bourgeois V, Poe C, El Khabbaz F, Vitobello A, Philippe C, Duffourd Y, Thauvin-Robinet C, Faivre L, Nambot S

Am J Med Genet A. 2022 09 9;:

Detection of relevant pharmacogenetic information through exome sequencing in oncology.

Verdez S, Albuisson J, Duffourd Y, Boidot R, Reda M, Thauvin-Robinet C, Fumet JD, Ladoire S, Nambot S, Callier P, Faivre L, Ghiringhelli F, Picard N

Pharmacogenomics. 2022 08 31;:

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.

Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A

Am J Hum Genet. 2022 08 23;:

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