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


1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Jacquin C, Landais E, Poirsier C, Afenjar A, Akhavi A, Bednarek N, Bénech C, Bonnard A, Bosquet D, Burglen L, Callier P, Chantot-Bastaraud S, Coubes C, Coutton C, Delobel B, Descharmes M, Dupont JM, Gatinois V, Gruchy N, Guterman S, Heddar A, Herissant L, Heron D, Isidor B, Jaeger P, Jouret G, Keren B, Kuentz P, Le Caignec C, Levy J, Lopez N, Manssens Z, Martin-Coignard D, Marey I, Mignot C, Missirian C, Pebrel-Richard C, Pinson L, Puechberty J, Redon S, Sanlaville D, Spodenkiewicz M, Tabet AC, Verloes A, Vieville G, Yardin C, Vialard F, Doco-Fenzy M

Am J Med Genet A. 2022 11 11;:

Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.

Schöpflin R, Melo US, Moeinzadeh H, Heller D, Laupert V, Hertzberg J, Holtgrewe M, Alavi N, Klever MK, Jungnitsch J, Comak E, Türkmen S, Horn D, Duffourd Y, Faivre L, Callier P, Sanlaville D, Zuffardi O, Tenconi R, Kurtas NE, Giglio S, Prager B, Latos-Bielenska A, Vogel I, Bugge M, Tommerup N, Spielmann M, Vitobello A, Kalscheuer VM, Vingron M, Mundlos S

Nat Commun. 2022 10 29;13(1):6470

OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.

Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denommé-Pichon AS, Safraou H, Delanne J, Jean-Marçais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poë C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF, Vitobello A

Front Cell Dev Biol. 2022 10 28;10:1021785

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