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Hubert Journel

Observed names: H Journel, H. Journel, HUBERT JOURNEL, JOURNEL, Hubert, Journel, Hubert
Observed institutions: Lyon 1 Université, Université de Tours, Hôpital Necker-Enfants Malades, Centre National de la Recherche Scientifique, Inserm, Erasmus MC, Children's Hospital at Westmead, LMU Klinikum, Temple Street Children's University Hospital, University of Oxford, Liverpool Heart and Chest Hospital, Centre de Recherche des Cordeliers, Centre Hospitalier Universitaire de Montpellier, Centre de Recherche en Neurosciences de Lyon, Centre Hospitalier Universitaire de Tours, Assistance Publique – Hôpitaux de Paris, Hospices Civils de Lyon, Centre hospitalier Bretagne Atlantique, Centre de Physiopathologie de Toulouse-Purpan, Pitié-Salpêtrière Hospital, Hôpital Pontchaillou, Oxford University Hospitals NHS Trust, Hôpital Arnaud de Villeneuve, Centre Hospitalier Universitaire de Rennes, Hôpital de la Timone, Ludwig-Maximilians-Universität München
OpenAlex ID: A5043773229
Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome
2009 · V. Laugel, C. Dalloz, et al. · Human Mutation · 242
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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations
2006 · Sébastien Albert, Hélène Blons, et al. · European Journal of Human Genetics · 242
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
2009 · N Le Meur, M Holder-Espinasse, et al. · Journal of Medical Genetics · 235
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
2001 · P de Lonlay, N Seta, et al. · Journal of Medical Genetics · 221
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Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
2013 · Esther Kott, Marie Legendre, et al. · The American Journal of Human Genetics · 179
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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
2008 · Dorien Lugtenberg, Tjitske Kleefstra, et al. · European Journal of Human Genetics · 149
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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
2018 · Christine Bellanné-Chantelot, Barbara Schmaltz-Panneau, et al. · Blood · 136
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The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
1994 · C. Schrander-Stumpel, P. Meinecke, et al. · European Journal of Pediatrics · 123
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations
2009 · Judith Calvo, Benoît Funalot, et al. · Archives of Neurology · 122
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Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
2017 · Lara De Tomasi, Pierre David, et al. · The American Journal of Human Genetics · 112
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Neonatal screening for cystic fibrosis in Brittany, France: assessment of 10 years' experience and impact on prenatal diagnosis
2000 · Virginie Scotet, Marc de Braekeleer, et al. · The Lancet · 110
GJB2 and GJB6 Mutations: Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients
2005 · Sandrine Marlin, Delphine Feldmann, et al. · Archives of Otolaryngology - Head and Neck Surgery · 104
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma
1989 · Isabelle Henry, Marc Jeanpierre, et al. · Human Genetics · 100
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity
2004 · H Blons, D Feldmann, et al. · Clinical Genetics · 97
Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients
2016 · Sarah Grotto, Jean-Marie Cuisset, et al. · Journal of Neuromuscular Diseases · 95
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip
2007 · Marianne Lévêque, Sandrine Marlin, et al. · European Journal of Human Genetics · 95
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
2017 · Anne-Claude Tabet, Thomas Rolland, et al. · npj Genomic Medicine · 88
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Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: A multicenter case–control study
2008 · Mirande Candito, Romain Rivet, et al. · American Journal of Medical Genetics Part A · 86
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)
2003 · Yves Sznajer, Clarisse Baumann, et al. · European Journal of Pediatrics · 85
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
2019 · Emmanuelle Lagrue, Céline Dogan, et al. · Neurology · 83
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability
2019 · Jill Clayton-Smith, Rebecca Bromley, et al. · Orphanet Journal of Rare Diseases · 78
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Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans
2010 · M. Lebrun, N. Richard, et al. · The Journal of Clinical Endocrinology & Metabolism · 78
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
2018 · Sandra Martin-Brevet, Borja Rodríguez-Herreros, et al. · Biological Psychiatry · 75
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Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
2013 · Sandra Mercier, Annick Toutain, et al. · European Journal of Human Genetics · 72
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
2014 · Laïla El Khattabi, Fabien Guimiot, et al. · European Journal of Human Genetics · 71
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Works count: 148
Citation count: 5,089
H-index: 44
I10-index: 78
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