Publications by authors named "Dupont Celine"

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Development of in situ real-time sensor for molecular contamination.
Lasserre Alexis, Simon Léo, Eck Julien, Rossignol Jérôme, Dupont Céline

Sci Rep· July 2025

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Ambipolar Behavior of Hematite Surface Induced by Water Adsorption Revealed under Environmental Conditions.
Pierre-Marie Deleuze, Bruno Domenichini, Hélène Magnan, Mathieu G Silly, Antoine Barbier

J Phys Chem Lett· April 2025

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Quality Improvement Initiatives for Pleural Infection Managed with Intrapleural Therapy.
Riham Elmahboubi, Catherine Robitaille, Céline Dupont, Julie Dallaire, Marie Létourneau

Ann Am Thorac Soc· February 2025

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DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Yline Capri, Lucas Bourmance, Céline Dupont, Marie-Hélène Saint-Frison, Fabien Guimiot

Clin Genet· November 2023

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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Cécile Courdier, John Boudjarane, Valérie Malan, Christine Muti, Brian Sperelakis-Beedham

Prenat Diagn· June 2023

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Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
Jonathan Lévy, Guillaume Cogan, Anna Maruani, Arnaud Maillard, Céline Dupont

Clin Genet· March 2022

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Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Marion Lesieur-Sebellin, Marianne Till, Philippe Khau Van Kien, Bérénice Herve, Nicolas Bourgon

Prenat Diagn· January 2022

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Unraveling the Surface Reactivity of Pristine and Ti-Doped Hematite with Water.
Pierre-Marie Deleuze, Héléne Magnan, Antoine Barbier, Mathieu Silly, Bruno Domenichini

J Phys Chem Lett· December 2021

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EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Jonathan Lévy, Bérénice Schell, Hala Nasser, Myriam Rachid, Lyse Ruaud

Clin Genet· October 2021

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LEF1 haploinsufficiency causes ectodermal dysplasia.
Jonathan Lévy, Yline Capri, Myriam Rachid, Céline Dupont, Joris R Vermeesch

Clin Genet· April 2020

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Functional Extrapolations to Tame Unbound Anions in Density-Functional Theory Calculations.
Francesco Nattino, Céline Dupont, Nicola Marzari, Oliviero Andreussi

J Chem Theory Comput· November 2019

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Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.
Sarah Guterman, Claire Beneteau, Sylvia Redon, Céline Dupont, Chantal Missirian

Prenat Diagn· September 2019

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Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel

J Med Genet· August 2019

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Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti

NPJ Genom Med· July 2019

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Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Marguerite Hureaux, Sarah Guterman, Bérénice Hervé, Marianne Till, Sylvie Jaillard, Celine Dupont

Prenat Diagn· May 2019

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Theoretical investigation of the platinum substrate influence on BaTiO thin film polarisation.
Pierre-Marie Deleuze, Agnes Mahmoud, Bruno Domenichini, Céline Dupont

Phys Chem Chem Phys· February 2019

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Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.
Pascaline Létard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne-Lise Delezoide

Am J Med Genet A· November 2018

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The nature of the Pt(111)/α-FeO(0001) interfaces revealed by DFT calculations.
Agnes Mahmoud, Pierre-Marie Deleuze, Céline Dupont

J Chem Phys· May 2018

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti

NPJ Genom Med· October 2017

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Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann

Am J Med Genet A· August 2017

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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre

BMC Med Genet· September 2015

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Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Laïla El Khattabi, Fabien Guimiot, Eva Pipiras, Joris Andrieux, Clarisse Baumann

Eur J Hum Genet· August 2015

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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi

Prenat Diagn· August 2015

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Anne-Claude Tabet, Alain Verloes, Marion Pilorge, Elsa Delaby, Richard Delorme

Mol Autism· April 2015

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Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.
Livia Marcato, Licia Turolla, Eva Pompilii, Celine Dupont, Nicolas Gruchy

Clin Case Rep· April 2014

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