Pr CALLIER Patrick

Fiche personne


coordonnées

Hôpital Mitterrand
14 rue Gaffarel
21079 DIJON Cedex

+33 3 80 29 55 82

Patrick.callier@chu-dijon.fr

Territoire

Bourgogne

Statut

Hospitalo-Universitaire

Recherche

Expertises :
- Clinique:Génétique Médicale
- Recherche:Biologie Moléculaire
- Clinique:Cytogénétique

Publications


Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S

Am J Hum Genet. 2023 11 14;:

Novel role of fluorescent in situ hybridization technique (FISH) in recommended surgical margins of dermatofibrosarcoma protuberans: A preliminary study.

Hallier A, Callier P, Sauge J, Cristofari S, Lombardo GAG, Aubriot-Lorton MH, Stivala A

Ann Chir Plast Esthet. 2023 08 29;:

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A

Am J Hum Genet. 2023 04 17;:

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