Publications by authors named "Hubert Journel"

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Hubert Journel

Sci Adv· March 2023

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coding variants in the gene cause a neurodevelopmental disorder with intellectual disability.
Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Hubert Journel

J Med Genet· October 2022

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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Aurélien Juven, Sophie Nambot, Amélie Piton, Nolwenn Jean-Marçais, Alice Masurel, Hubert Journel

Eur J Hum Genet· August 2020

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Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
François Lecoquierre, Anne-Claire Brehin, Sophie Coutant, Juliette Coursimault, Anne Bazin, Hubert Journel

Hum Mutat· May 2020

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Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Justine Lerat, Corinne Magdelaine, Anne-Françoise Roux, Léa Darnaud, Hélène Beauvais-Dzugan, Hubert Journel

Mol Genet Genomic Med· September 2019

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Hubert Journel

Genet Med· 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, Hubert Journel

NPJ Genom Med· July 2019

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Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Jill Clayton-Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent

Orphanet J Rare Dis· July 2019

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Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures.
Julien Denis, Nathalie Villeneuve, Pierre Cacciagli, Cecile Mignon-Ravix, Caroline Lacoste, Hubert Journel

Epilepsia· May 2019

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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Hubert Journel

Genet Med· April 2019

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Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.
Marie Beaumont, Linda Akloul, Wilfrid Carré, Chloé Quélin, Hubert Journel

Hum Genet· April 2019

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Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.
Rosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, Hester Y Kroes, Sally Ann Lynch, Hubert Journel

Eur J Hum Genet· February 2019

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A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Emmanuelle Lagrue, Céline Dogan, Marie De Antonio, Frédérique Audic, Nathalie Bach, Hubert Journel

Neurology· February 2019

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Mutations in the gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Hubert Journel

Blood· September 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, Hubert Journel

J Med Genet· June 2018

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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Hubert Journel

Am J Hum Genet· November 2017

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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, Hubert Journel

NPJ Genom Med· October 2017

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Outcomes of intra-detrusor injections of botulinum toxin in patients with spina bifida: A systematic review.
Juliette Hascoet, Andrea Manunta, Charlène Brochard, Alexis Arnaud, Mireille Damphousse, Hubert Journel

Neurourol Urodyn· March 2017

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Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.
Sarah Grotto, Jean-Marie Cuisset, Stéphane Marret, Séverine Drunat, Patricia Faure, Hubert Journel

J Neuromuscul Dis· November 2016

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Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Sébastien Moutton, Patricia Fergelot, Sophie Naudion, Marie-Pierre Cordier, Guilhem Solé, Hubert Journel

J Hum Genet· August 2016

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Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Salima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, Valérie Malan, Jeanne Amiel, Hubert Journel

Am J Med Genet A· January 2016

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Karyotype is not dead (yet)!
Laurent Pasquier, Mélanie Fradin, Elouan Chérot, Dominique Martin-Coignard, Estelle Colin, Hubert Journel

Eur J Med Genet· January 2016

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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, Hubert Journel

Eur J Hum Genet· August 2015

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Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
Laïla El Khattabi, Sylvie Jaillard, Joris Andrieux, Laurent Pasquier, Laurence Perrin, Hubert Journel

Am J Med Genet A· June 2015

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Inversion duplication deletions involving the long arm of chromosome 13: phenotypic description of additional three fetuses and genotype-phenotype correlation.
Chloe Quelin, Emmanuel Spaggiari, Suonavy Khung-Savatovsky, Celine Dupont, Laurent Pasquier, Hubert Journel

Am J Med Genet A· October 2014

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