Patricia Fergelot

Centre National de la Recherche Scientifique — France

Medicine · Health Sciences

30h-index3.4kcitations148works11.42yr avg
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Research Topics

Renal cell carcinoma treatment(33), Renal and related cancers(21), Iron Metabolism and Disorders(17), Congenital limb and hand anomalies(15), Trace Elements in Health(14)

Publications147 total

<i>FLNA</i> genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations
Journal of Medical Genetics·2025
Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome
Communications Biology·2024· 3 citedOpen Access
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Human Genetics and Genomics Advances·2024· 3 citedOpen Access
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies
European Journal of Pain·2024· 2 citedOpen Access
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
Human Genetics and Genomics Advances·2024· 11 citedOpen Access
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Journal of Medical Genetics·2024· 35 citedOpen Access
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
European Journal of Human Genetics·2023· 24 citedOpen Access
Author Correction: CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Nature Communications·2023Open Access
Autosomal Dominant <scp>MPAN</scp>: Mosaicism Expands the Clinical Spectrum to Atypical Late‐Onset Phenotypes
Movement Disorders·2023· 6 citedOpen Access
<i>ARF1</i>-related disorder: phenotypic and molecular spectrum
Journal of Medical Genetics·2023· 10 citedOpen Access
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
Journal of Cystic Fibrosis·2022· 3 citedOpen Access
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Nature Communications·2022· 19 citedOpen Access
Deep intronic <i>NIPBL de novo</i> mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Human Mutation·2022· 7 citedOpen Access
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
International Journal of Molecular Sciences·2022· 15 citedOpen Access
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Orphanet Journal of Rare Diseases·2021· 16 citedOpen Access
Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
African Health Sciences·2021· 5 citedOpen Access
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Genes·2021· 83 citedOpen Access
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
The American Journal of Human Genetics·2021· 33 citedOpen Access
Additional file 3 of Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Figshare·2021Open Access
Additional file 4 of Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome
Figshare·2021Open Access
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Frequent Co-authors

Didier Lacombe(18), Benoı̂t Arveiler(11), Julien Van‐Gils(9), Jean‐Jacques Patard(9), Cyril Goizet(9), N. Costedoat‐Chalumeau(7), Isabelle Coupry(6), Laurence Faivre(5), Thierry Bienvenu(5), David Geneviève(5), Caroline Rooryck(5), Florence Jouan(5), Jean Mosser(4), Jean‐Yves Le Gall(4), Christèle Dubourg(4), Gaëtan Lesca(4), Cyril Mignot(4), Alexandra Afenjar(4), Guilhem Solé(4), Alain Verloès(4)