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Frédéric Bilan

Observed names: BILAN, Frédéric, Bilan F, Bilan, Frederic, Bilan, Frédéric, F Bilan, F. Bilan, Frederic BILAN, Frederic Bilan, Frédéric Bilan
Observed institutions: Université de Tours, Centre National de la Recherche Scientifique, University of Lisbon, Inserm, Université de Bourgogne, Columbia University Irving Medical Center, Université de Poitiers, Hôpital Cochin, Centre Hospitalier Universitaire de Tours, Assistance Publique – Hôpitaux de Paris, Centre Hospitalier Universitaire de Poitiers, CHU Dijon Bourgogne, Centre de recherche Translationnelle en Médecine moléculaire, National Institute of Health Dr. Ricardo Jorge, Centre de Génétique Moléculaire, Bicêtre Hospital, Génétique, Génomique Fonctionnelle et Biotechnologies, Laboratoire de Neurosciences Expérimentales et Cliniques, Biologie & Santé
ORCID: 0000-0001-8589-6018
Observed ORCID: 0000-0001-8589-6018
OpenAlex ID: A5014929289
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
2017 · Darci T. Butcher, Cheryl Cytrynbaum, et al. · The American Journal of Human Genetics · 199
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Delineation of 15q13.3 microdeletions
2010 · A Masurel‐Paulet, J Andrieux, et al. · Clinical Genetics · 145
Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications
2021 · Katrine M Johannesen, Yuanyuan Liu, et al. · Brain · 144
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15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
2015 · Clémence Vanlerberghe, Florence Petit, et al. · European Journal of Medical Genetics · 122
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
2013 · Frédérique Béna, Damien L. Bruno, et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 109
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
2017 · Marine Legendre, Véronique Abadie, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 85
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Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)
2015 · Capucine Hyon, Sandra Chantot‐Bastaraud, et al. · American Journal of Medical Genetics Part A · 68
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Syntaxin 8 impairs trafficking of cystic fibrosis transmembrane conductance regulator (CFTR) and inhibits its channel activity
2004 · Frédéric Bilan, Vincent Thoreau, et al. · Journal of Cell Science · 61
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57
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Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations
2012 · Marine Legendre, Marie Gonzales, et al. · Journal of Medical Genetics · 57
NBEA: Developmental disease gene with early generalized epilepsy phenotypes
2018 · Maureen S. Mulhern, Constance Stumpel, et al. · Annals of Neurology · 55
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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
2017 · Jessica Le Gall, Mathilde Nizon, et al. · European Journal of Human Genetics · 54
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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
2019 · Benjamin Cogné, Sophie Ehresmann, et al. · The American Journal of Human Genetics · 53
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
2021 · Lance H. Rodan, Rebecca C. Spillmann, et al. · Genetics in Medicine · 49
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Structural Pituitary Abnormalities Associated With CHARGE Syndrome
2013 · Louise C. Gregory, Evelien F. Gevers, et al. · The Journal of Clinical Endocrinology & Metabolism · 48
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The cystic fibrosis mutation G1349D within the signature motif LSHGH of NBD2 abolishes the activation of CFTR chloride channels by genistein
2004 · Patricia Melin, Vincent Thoreau, et al. · Biochemical Pharmacology · 44
Characterization of the Different BCR-ABL Transcripts with a Single Multiplex RT-PCR
2004 · Jacques Chasseriau, Jérôme Rivet, et al. · Journal of Molecular Diagnostics · 43
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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
2020 · Hui Guo, Qiumeng Zhang, et al. · The American Journal of Human Genetics · 39
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Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome
2016 · Tiffany Busa, Marine Legendre, et al. · Prenatal Diagnosis · 39
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
2021 · Ilaria Parenti, Daphné Lehalle, et al. · Human Genetics · 38
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De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
2020 · Dara Tolchin, Jessica P. Yeager, et al. · The American Journal of Human Genetics · 37
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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
2021 · Ilaria Mannucci, Nghi D. P. Dang, et al. · Genome Medicine · 35
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
2020 · CAUSES Study, Sophie Nambot, et al. · European Journal of Human Genetics · 35
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
2023 · Thomas Husson, François Lecoquierre, et al. · European Journal of Human Genetics · 31
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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
2021 · Juliette Coursimault, Anne-Marie Guerrot, et al. · Human Genetics · 31
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Works count: 92
Citation count: 2,122
H-index: 28
I10-index: 46
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