Publications by authors named "Francoise Devillard"

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Resolving structural variations missed by short-read sequencing uncovers their pathogenicity.
Caroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, Nicolas Chatron, Marion Beaumont, Francoise Devillard

J Med Genet· November 2025

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Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.
Guillaume Cogan, Marie-Bérengère Troadec, Françoise Devillard, Marie-Hélène Saint-Frison, David Geneviève

Prenat Diagn· March 2025

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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud, Justine Wourms, Françoise Devillard

J Med Genet· August 2024

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Familial KCNQ2 mutation: a psychiatric perspective.
Anton Iftimovici, Angeline Charmet, Béatrice Desnous, Ana Ory, Richard Delorme, Françoise Devillard

Psychiatr Genet· February 2024

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Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
Florence Riant, Lydie Burglen, Michaelle Corpechot, Julien Robert, Alexandra Durr, Françoise Devillard

Clin Genet· September 2023

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Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Leïla Ghesh, Julie Désir, Damien Haye, Pauline Le Tanno, Françoise Devillard

Clin Genet· May 2023

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Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.
Edgar Del Llano, Aurore Perrin, Frédéric Morel, Françoise Devillard, Radu Harbuz

Int J Mol Sci· February 2023

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Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Guillaume Jouret, Matthieu Egloff, Emilie Landais, Olivier Tassy, Fabienne Giuliano, Françoise Devillard

Am J Med Genet A· January 2023

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Françoise Devillard

Clin Genet· March 2022

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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, Catherine Schramm, Francisca Millan Zamora, Françoise Devillard

Hum Genet· January 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, Françoise Devillard

Prenat Diagn· January 2022

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De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Françoise Devillard

Genet Med· November 2020

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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Michele Bertacchi, Anna Lisa Romano, Agnès Loubat, Frederic Tran Mau-Them, Marjolaine Willems, Françoise Devillard

EMBO J· July 2020

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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, Françoise Devillard

J Med Genet· August 2019

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9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, Dario Zimbalatti, Ilaria Bestetti, Françoise Devillard

Neurogenetics· 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, Françoise Devillard

NPJ Genom Med· July 2019

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Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Graciane Petre, Patrick Lorès, Hervé Sartelet, Aurélie Truffot, Brice Poreau, Françoise Devillard

Clin Genet· December 2018

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[A specialised consultation for children and young adults with trisomy 21].
Florence Amblard, Françoise Devillard, Léa Dumortier, Véronique-Aurélie Bricout

Soins Pediatr Pueric· November 2018

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Further delineation of the duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Françoise Devillard

J Med Genet· June 2018

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Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
Anna Lamotte, Guillaume Martinez, Françoise Devillard, Jean-Pascal Hograindleur, Véronique Satre

Basic Clin Androl· 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, Françoise Devillard

NPJ Genom Med· October 2017

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haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.
Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Francoise Devillard

J Med Genet· July 2017

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Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Françoise Devillard

Genet Med· June 2017

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Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.
Clémentine Wambergue, Raoudha Zouari, Selima Fourati Ben Mustapha, Guillaume Martinez, Françoise Devillard

Hum Reprod· June 2016

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Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.
Caroline Bosson, Françoise Devillard, Véronique Satre, Klaus Dieterich, Pierre F Ray

Am J Med Genet A· February 2016

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