Publications de l'équipe GPLD

Publications majeures 2010-2019

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C and David V. Human Genetics. 2019 Jan.

Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.

Recent advances in understanding inheritance of holoprosencephaly. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Am J Med Genet. C. 2018 May.

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity. Dykes IM, Szumska D, Kuncheria L, Puliyadi R, Chen CM, Papanayotou C, Lockstone H, Dubourg C, David V, Schneider JE, Keane TM, Adams DJ, Brown SDM, Mercier S, Odent S, Collignon J, Bhattacharya S. Sci Rep. 2018 Jul.

Regulation of downstream neuronal genes by proneural transcription factors during initial neurogenesis in the vertebrate brain. Ware M, Hamdi-Rozé H, Le Friec J, David V, Dupé V. Neural Development. 2016 Dec.

Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. 
Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. Hum. Mutat. 2016 Dec.

Gene regulation and chromatin organization: relevance of cohesine mutations to human disease. Watrin E, Kaiser FJ, Wendt KS. Curr Opin Genet Dev. 2016 Apr.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Genome Res. 2016

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C, Dubourg C, Carré W, Rose S, Quelin c, Akloul L, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V.
Clin. Genet. 2016 Jan.

Evolutionary conservation of the early axon scaffold in the vertebrate brain. 
Ware M, Dupé V, Schubert FR.
Dev. Dyn. 2015 Oct.

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis. 
de Tayrac M, Roth MP, Jouanolle M, Coppin H, le Gac G, Piperno a, Férec C, Pelucchi S, Scotet V, Bardou-Jacquet E, Ropert M, Bouvet R, Génin E, Mosser J, Deugnier Y.
J. Hepatol. 2015 Mar.

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings. 
Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Akloul L, Héron B, Odent S, Dupé V, Giet R, David V.
PLoS One. 2015 Feb.

Dynamic expression of Notch-dependent neurogenic markers in the embryonic nervous system of the chick. 
Ratié L, Ware M, Jagline H, David V, Dupé V.
Front Neuroanat. 2014 Dec

Notch signaling and proneural genes work together to control the neural building blocks for the initial scaffold in the hypothalamus. 
Ware M, Hamdi-Rozé H, Dupé V.
Front Neuroanat. 2014 Dec.

NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryo. 
Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.
Dis Model Mech. 2013 Mar.

Novel genes upregulated when NOTCH signalling is disrupted during hypothalamic development. 
Ratié L, Ware M, Barloy-Hubler F, Romé H, Gicquel I, Dubourg C, David V, Dupé V.
Neural Development. 2013 Dec.

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog. 
Solomon BD, Bear KA, Wyllie A, Keaton AA, Dubourg C, David V, Mercier S, Odent S, Hehr U, Paulussen A, Clegg NJ, Delgado MR, Bale SJ, Lacbawan F, Ardinger HH, Aylsworth AS, Bhengu NL, Braddock S, Brookhyser K, Burton B, Gaspar H, Grix A, Horovitz D, Kanetzke E, Kayserili H, Lev D, Nikkel SM, Norton M, Roberts R, Saal H, Schaefer GB, Schneider A, Smith EK, Sowry E, Spence MA, Shalev SA, Steiner CE, Thompson EM, Winder TL, Balog JZ, Hadley DW, Zhou N, Pineda-Alvarez DE, Roessler E, Muenke M.
J Med Genet. 2012 Jul.

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L , Quélin C, Sinteff J-P, Dupé V, David V and Odent S.
J Med Genet. 2011 Nov.

NOTCH, a new signaling pathway implicated in holoprosencephaly. 
Dupé V, Rochard L, Mercier S, Le Pétillon Y, Gicquel I, Bendavid C, Bourrouillou G, Usha K, Thauvin-Robinet C, Bohan T, Odent S, Dubourg C, David V.
Hum Mol Genet. 2011 Mar.

Clinical utility gene card for: Holoprosencephaly. 
Dubourg C, David V, Gropman A, Mercier S, Muenke M, Odent S, Pineda-Alvarez DE, Roessler E.
Eur J Hum Genet. 2011 Jan.

Mutations in ZIC2 in human holoprosencephaly : Description of a novel ZIC2-Specific phenotype and comprehensive analysis of 157 individuals. 
Solomon BD, Lacbawan F, Mercier S, Clegg NJ, Delgado MR, RosenbaumK, Dubourg C, David V, Olney AH, Wehner LE, Hehr U, Bale S, Paulussen A, Smeets HJ, Hardisty E, Tyki-Szymanska A, Pronicka E, Clemens M, McPherson E, Hennekam RC, Haln J, Stashinko E, Levey E, Wieczorek D, Roeder E, Schell-Apacik CC, Booth CW, Thomas RL, Kenwrich S, Keaton A, Balog JZ, Hadley D, Zhou N, Long R, Velez JI, Pineda-Alvarez DE, Odent S, Roessler E, Muenke M.
J Med Genet. 2010 Aug.

Analysis of genotype-phenotype correlations in human holoprosencephaly. 
Solomon BD, Mercier S, Velez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M.
Am J Med Genet C Semin Med Genet. 2010 Feb.

Current recommandations for the molecular evaluation of newly diagnosed holoprosencephaly patients. 
Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M.
Am J Med Genet C Semin Med Genet. 2010 Feb

Holoprosencephaly: an update on cytogenetic abnormalities. 
Bendavid C, Dupé V, Rochard L, Gicquel I, Dubourg C and David V.
Am J Hum Genet C Semin Med Genet. 2010 Feb.