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Séverine Audebert‐Bellanger

Observed names: AUDEBERT-BELLANGER, Séverine, Audebert-Bellanger, S., Audebert-Bellanger, Séverine, S Audebert-Bellanger, S. Audebert-Bellanger, Severine Audebert, Severine Audebert Bellanger, Severine Audebert-Bellanger, Severine Audebert‐Bellanger, Séverine AUDEBERT-BELLANGER, Séverine Audebert, Séverine Audebert Bellanger, Séverine Audebert-Bellanger, Séverine Audebert-bellanger
OpenAlex ID: A5028378083
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 · 92
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
2015 · Frederic Brioude, Irène Netchine, et al. · Human Mutation · 90
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
2021 · Holly K. Harris, Tojo Nakayama, et al. · Genetics in Medicine · 85
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Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
2018 · Elodie Girard, Séverine Eon‐Marchais, et al. · International Journal of Cancer · 76
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The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
2015 · Mouna Barat-Houari, Bruno Dumont, et al. · European Journal of Human Genetics · 60
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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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Focus on cystic fibrosis and other disorders evidenced in fetuses with sonographic finding of echogenic bowel: 16-year report from Brittany, France
2010 · Virginie Scotet, Ingrid Duguépéroux, et al. · American Journal of Obstetrics and Gynecology · 49
A small de novo 16q24.1 duplication in a woman with severe clinical features
2013 · Sylvia Quéméner-Redon, Caroline Bénech, et al. · European Journal of Medical Genetics · 42
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Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects
2022 · Laëtitia Kermasson, Dmitri Churikov, et al. · Blood · 40
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 · Médéric Jeanne, Hélène Demory, et al. · The American Journal of Human Genetics · 40
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Severe Phenotype in Patients with Large Deletions of NF1
2021 · Laurence Pacot, Dominique Vidaud, et al. · Cancers · 38
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Clinical Characteristics of Pruritus in Neurofibromatosis 1
2015 · E Brenaut, C Nizery-Guermeur, et al. · Acta Dermato Venereologica · 35
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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
2022 · Richard H. van Jaarsveld, Jack Reilly, et al. · Genetics in Medicine · 34
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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 · 32
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Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
2020 · Hélène Tubeuf, Sandrine M. Caputo, et al. · Cancer Research · 31
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Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism
2021 · Evin M. Padhi, Tristan J. Hayeck, et al. · Human Genomics · 25
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Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 · Sébastien Küry, Frédéric Ebstein, et al. · The American Journal of Human Genetics · 24
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Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants
2021 · Florent Marguet, Myriam Vezain, et al. · Acta Neuropathologica Communications · 24
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Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
2023 · Deepak Khatri, Audrey Putoux, et al. · Proceedings of the National Academy of Sciences · 23
GENESIS: a French national resource to study the missing heritability of breast cancer
2016 · Olga M. Sinilnikova, Marie-Gabrielle Dondon, et al. · BMC Cancer · 23
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
2022 · Amélie Cordovado, Martina Schaettin, et al. · Human Molecular Genetics · 20
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
2022 · Sébastien Küry, Jinwei Zhang, et al. · Genetics in Medicine · 18
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Association and Performance of Polygenic Risk Scores for Breast Cancer Among French Women Presenting or Not a Familial Predisposition to the Disease
2022 · Yue Jiao, Thérèse Truong, et al. · European Journal of Cancer · 18
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Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation
2021 · Maximiliano Ribeiro Guerra, Juliette Coignard, et al. · Breast Cancer Research · 15
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Works count: 88
Citation count: 1,155
H-index: 21
I10-index: 28
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