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Sylvie Rossignol

Observed names: ROSSIGNOL, Sylvie, Rossignol S, Rossignol, Sylvie, S Rossignol, S. Rossignol, SYLVIE ROSSIGNOL
Observed institutions: Hôpital Necker-Enfants Malades, Inserm, Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Hôpital Saint-Antoine, Centre de Recherche Saint-Antoine, Centre Européen de la Céramique, Hôpitaux Universitaires de Strasbourg, Institut de Recherche sur les Céramiques, Hôpital d'Hautepierre, Laboratoire de Génétique Médicale, Université Pierre-et-Marie-Curie, Société Française d'Endocrinologie, Université de Limoges, Université de Strasbourg
ORCID: 0000-0001-7559-5764
Observed ORCIDs: 0000-0001-7559-5764, 0000-0003-1268-0632
OpenAlex ID: A5103239355
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
2018 · Frédéric Brioude, Jennifer M. Kalish, et al. · Nature Reviews Endocrinology · 644
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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
2005 · Christine Gicquel, Sylvie Rossignol, et al. · Nature Genetics · 509
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
2007 · Irène Netchine, Sylvie Rossignol, et al. · The Journal of Clinical Endocrinology & Metabolism · 323
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
2009 · Salah Azzi, Sylvie Rossignol, et al. · Human Molecular Genetics · 260
The epigenetic imprinting defect of patients with Beckwith—Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region
2006 · S Rossignol, V Steunou, et al. · Journal of Medical Genetics · 226
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Beckwith-Wiedemann Syndrome: Growth Pattern and Tumor Risk according to Molecular Mechanism, and Guidelines for Tumor Surveillance
2013 · F. Brioude, A. Lacoste, et al. · Hormone Research in Paediatrics · 164
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
2013 · F Brioude, I Oliver-Petit, et al. · Journal of Medical Genetics · 137
Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
2009 · Julie Demars, Mansur Ennuri Shmela, et al. · Human Molecular Genetics · 126
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
2013 · Caroline Schluth-Bolard, Audrey Labalme, et al. · Journal of Medical Genetics · 122
Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome
2004 · Geneviève Baujat, Marlène Rio, et al. · The American Journal of Human Genetics · 120
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Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
2013 · EDOUARD COTTEREAU, ISABELLE MORTEMOUSQUE, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 102
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 · 95
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
2024 · Hélène Dollfus, Marc R. Lilien, et al. · European Journal of Human Genetics · 89
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Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome
2014 · Walid Abi Habib, Salah Azzi, et al. · Human Molecular Genetics · 79
Malformations, genetic abnormalities, and wilms tumor
2013 · S. Dumoucel, M. Gauthier‐Villars, et al. · Pediatric Blood & Cancer · 78
SNP arrays in Beckwith–Wiedemann syndrome: An improved diagnostic strategy
2013 · Boris Keren, Sandra Chantot-Bastaraud, et al. · European Journal of Medical Genetics · 71
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
2018 · Sophie Geoffron, Walid Abi Habib, et al. · The Journal of Clinical Endocrinology & Metabolism · 69
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New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
2011 · Julie Demars, Sylvie Rossignol, et al. · Human Mutation · 67
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Epigenetics, genomic imprinting and assisted reproductive technology
2010 · Y. Le Bouc, S. Rossignol, et al. · Annales d Endocrinologie · 65
Perlman syndrome: Report, prenatal findings and review
2008 · Jean‐Luc Alessandri, Fabrice Cuillier, et al. · American Journal of Medical Genetics Part A · 64
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 61
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Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders
2019 · Walid Abi Habib, Frédéric Brioude, et al. · Science Advances · 57
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Myoclonus-Dystonia Due to Maternal Uniparental Disomy
2008 · Émilie Guettard, Marie-France Portnoi, et al. · Archives of Neurology · 57
Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
2010 · Salah Azzi, Virginie Steunou, et al. · Human Mutation · 56
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
2017 · Solveig Heide, Sandra Chantot-Bastaraud, et al. · Journal of Medical Genetics · 52
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Works count: 91
Citation count: 4,360
H-index: 32
I10-index: 47
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