Publications by authors named "Dominique Gaillard"

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Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Dominique Gaillard

Eur J Hum Genet· August 2022

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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.
Uirá Souto Melo, Juliette Piard, Björn Fischer-Zirnsak, Marius-Konstantin Klever, Robert Schöpflin, Dominique Gaillard

Hum Genet· October 2021

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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Dominique Gaillard

J Med Genet· June 2021

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Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.
Laurélia Jourdan-Voyen, Renaud Touraine, Jean-Pierre Masutti, Tiffany Busa, Catherine Vincent-Delorme, Dominique Gaillard

Arch Dis Child Fetal Neonatal Ed· July 2020

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Genetics of Usher Syndrome: New Insights From a Meta-analysis.
Guillaume Jouret, Céline Poirsier, Marta Spodenkiewicz, Clémence Jaquin, Evan Gouy, Dominique Gaillard

Otol Neurotol· January 2019

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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
Xavière Lornage, Pascal Sabouraud, Béatrice Lannes, Dominique Gaillard, Raphaël Schneider

J Neuromuscul Dis· November 2018

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Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Laurence Heidet, Vincent Morinière, Charline Henry, Lara De Tomasi, Madeline Louise Reilly, Dominique Gaillard

J Am Soc Nephrol· October 2017

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Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Dominique Gaillard

J Med Genet· June 2017

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Dominique Gaillard

N Engl J Med· February 2017

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Dominique Gaillard

PLoS Biol· March 2016

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Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.
Laetitia Houx, Eric Hachulla, Isabelle Kone-Paut, Pierre Quartier, Isabelle Touitou, Dominique Gaillard

Arthritis Rheumatol· November 2015

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A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.
Emilie Landais, Camille Leroy, Pascale Kleinfinger, Stéphanie Brunet, Valérie Koubi, Dominique Gaillard

Am J Med Genet A· June 2015

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Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
Gianina Ravenscroft, Flora Nolent, Sulekha Rajagopalan, Ana M Meireles, Kevin J Paavola, Dominique Gaillard

Am J Hum Genet· June 2015

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Fetal phenotype associated with the 22q11 deletion.
Anne-Claire Noël, Fanny Pelluard, Anne-Lise Delezoide, Louise Devisme, Laurence Loeuillet, Dominique Gaillard

Am J Med Genet A· November 2014

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Martine Doco-Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie-Ange Delrue, Dominique Gaillard

Eur J Hum Genet· April 2014

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Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Daphné Lehalle, Christopher T Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Dominique Gaillard

Hum Mutat· April 2014

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Report on 3 patients with 12p duplication including GRIN2B.
Celine Poirsier, Emilie Landais, Nathalie Bednarek, Jean-Marie Nobecourt, Maroun Khoury, Dominique Gaillard

Eur J Med Genet· April 2014

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Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Homa Adle-Biassette, Pascale Saugier-Veber, Catherine Fallet-Bianco, Anne-Lise Delezoide, Férecheté Razavi, Dominique Gaillard

Acta Neuropathol· September 2013

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Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Leire Madariaga, Vincent Morinière, Cécile Jeanpierre, Raymonde Bouvier, Philippe Loget, Dominique Gaillard

Clin J Am Soc Nephrol· July 2013

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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Camille Leroy, Emilie Landais, Sylvain Briault, Albert David, Olivier Tassy, Dominique Gaillard

Eur J Hum Genet· June 2013

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KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Loïc Drévillon, André Megarbane, Bénédicte Demeer, Corine Matar, Paule Benit, Dominique Gaillard

Hum Mol Genet· June 2013

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Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Edouard Cottereau, Isabelle Mortemousque, Marie-Pierre Moizard, Lydie Bürglen, Didier Lacombe, Dominique Gaillard

Am J Med Genet C Semin Med Genet· May 2013

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Sirenomelia: a new type, showing VACTERL association with Thomas syndrome and a review of literature.
Martin Lhuaire, Agnès Jestin, Camille Boulagnon, Mélanie Loock, Martine Doco-Fenzy, Dominique Gaillard

Birth Defects Res A Clin Mol Teratol· March 2013

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Dominique Gaillard

J Med Genet· December 2012

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Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion.
Ksenija Vucurovic, Emilie Landais, Cécile Delahaigue, Julien Eutrope, Anouck Schneider, Dominique Gaillard

Eur J Med Genet· November 2012

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