>2022

Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant. Cospain A, Faoucher M, Cauchois A, Carre W, Quelin C, Dubourg C. Pediatr Dev Pathol. 2022.

DNA methylation episignature in Gabriele-de Vries syndrome. Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. Genet Med. 2022 Apr.

>2021

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders. Aref-Eshghi E, Kerkhof J, Pedro VP, France GD, Barat-Houari M, Ruiz-Pallares N, Andrau JC, Lacombe D, Van-Gils J, Fergelot P, Dubourg C, Cormier-Daire V, Rondeau S, Lecoquierre F, Saugier-Veber P, Nicolas G, Lesca G, Chatron N, Sanlaville D, Vitobello A, Faivre L, Thauvin-Robinet C, Laumonnier F, Raynaud M, Alders M, Mannens M, Henneman P, Hennekam RC, Velasco G, Francastel C, Ulveling D, Ciolfi A, Pizzi S, Tartaglia M, Heide S, Héron D, Mignot C, Keren B, Whalen S, Afenjar A, Bienvenu T, Campeau PM et al. Am J Hum Genet. 2021 Jun.

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Jeanne M, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Maas S, Motazacker M, Mancini G, Van Slegtenhorst M, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger K, Sherr E, Argilli E, England E, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Kury S, Odent S, Redon R, Khanna R, Dobyns W, Béziau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F. Am J Hum Genet. 2021 May.

Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, Van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel AL, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A. Clin Genet. 2021 May.

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy. Guénantin AC, Jebeniani I, Leschik J, Watrin E, Bonne G, Vignier N, Pucéat M. J Clin Invest. 2021 Jan.

MITF reprograms the extracellular matrix and focal adhesion in melanoma. Dilshat R, Fock V, Kenny C, Gerritsen I, Lasseur R, Travnickova J, Eichhoff O, Cerny P, Möller K, Sigurbjörnsdóttir S, Kirty K, Einarsdottir B, Cheng P, Levesque M, Cornell R, Patton E, Larue L, de Tayrac M, Magnúsdóttir E, Helga Ögmundsdóttir M, Steingrimsson E. Elife. 2021 Jan.

>2020

Local retinoic acid directs emergence of the extraocular muscle functional unit. Comai G, Tesarova M, Dupé V, Rhinn M, Vallecillo Garcia P, da Silva F, Feret B, Exelby K, Dollé P, Carlsson L, Pryce B, Spitz F, Stricker S, Zikmund T, Kaiser J, Briscoe J, Schedl A, Ghyselinck N, Schweitzer and Tajbakhsh S. Plos Biology. Nov 2020.

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein. Kim A, Le Douce J, Diab F, Dubourg C, Odent S, Dupé V, David V, Diambra L, Watrin E, de Tayrac M. Brain. 2020 Jul.

Disrupted brain development in association with reduced sonic hedgehog signalling underlies the pathogenesis of NOTCH-deficiency. Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. J Clin Endocrinol Metab. 2020 Sep.

MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Parenti I, Diab F, Ruiz Gil S, Mulugeta E, Casa V, Berutti R, Brouwer RW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos FJ, Schwarzmayr T, Gines MM, van Staveren T, van Ijcken W, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. Cell Reports. 2020 May.

Depicting the genetic architecture of pediatric cancers through an integrative gene network approach. Savary C, Kim A, Lespagnol A, Gandemer V, Pellier I, Andrieu C, Pagès G, Galibert MD, Blum Y et M de Tayrac. Scientific reports. 2020 Jan.

>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.

>2018

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.

A De Novo Variant in ADGRL2 Suggests a Novel Mechanism Underlying the Previously Undescribed Association of Extreme Microcephaly with Severe Reduced Sulcation and Rhombencephalosynapsis. Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A and Saugier-Veber P. Acta Neuropathologica Communications. 2018 Oct.

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.

>2017

[From cyclops to reality: a fresh look at the genetics of holoprosencephaly]. Dupé V, Dubourg C, de Tayrac M, David V. Médecine/Science. 2017 Nov. French

Du cyclope à la réalité, un nouveau regard sur la génétique de l'holoprosencéphalie. Dupé V, Dubourg C, de Tayrac M, David V. Médecine/Science. 2017 Nov.

>2016

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

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.

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

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 Jul.

>2015

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

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics. Braunholz D, Obieglo C, Parenti I, Pozojevic J, Eckhold J, Reiz B, Braenne I, Wendt KS, Watrin E, Vodopiutz J, Rieder H, Gillessen-Kaesbach G, Kaiser FJ. Hum Mutat. 2015 Jan