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Delphine Dupin‐Deguine

Observed names: D Dupin-Deguine, D. Dupin Deguine, D. Dupin-Deguine, Delphine Dupin Deguine, Delphine Dupin-Deguine
ORCID: 0009-0000-4636-7332
Observed ORCID: 0009-0000-4636-7332
OpenAlex ID: A5077404029
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
2013 · Veronique Pingault, Virginie Bodereau, et al. · The American Journal of Human Genetics · 213
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
2019 · Flavie Ader, Pascal De Groote, et al. · Clinical Genetics · 123
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
2017 · Antoine Paul, Anthony Drecourt, et al. · The American Journal of Human Genetics · 97
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
2017 · D. Baux, C. Vaché, et al. · Scientific Reports · 94
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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 · 62
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First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
2022 · Bertrand Chesneau, Marion Aubert‐Mucca, et al. · Clinical Genetics · 29
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
2020 · Céline Bordet, Sandrine Brice, et al. · Journal of Clinical Medicine · 28
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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation
2016 · C. Guissart, C. Dubucs, et al. · Journal of Cystic Fibrosis · 21
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Systematic analysis of SCN5A variants associated with inherited cardiac diseases
2024 · Alexis Hermida, Guillaume Jedraszak, et al. · Heart Rhythm · 18
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Searching for secondary findings: considering actionability and preserving the right not to know
2019 · Bertrand Isidor, Sophie Julia, et al. · European Journal of Human Genetics · 18
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NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis
2023 · Alexis Hermida, Flavie Ader, et al. · Circulation Genomic and Precision Medicine · 11
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
2022 · S. Legoupil, D. Bessis, et al. · Orphanet Journal of Rare Diseases · 11
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Tip of the iceberg: a tertiary care centre retrospective study of left ventricular hypertrophy aetiologies
2021 · Maxime Beneyto, Eve Cariou, et al. · Open Heart · 11
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations
2020 · F. Ader, P. De Groote, et al. · Archives of Cardiovascular Diseases Supplements · 9
Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study)
2020 · C. Bordet, S. Brice, et al. · Archives of Cardiovascular Diseases Supplements · 8
RBM20 Gene in Patients With Cardiomyopathy: Phenotypic Expression for Loss-of-Function Versus Hotspot Variants
2025 · Alexis Hermida, Flavie Ader, et al. · Circulation Heart Failure · 7
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies
2024 · Flavie Ader, Neil Derridj, et al. · International Journal of Cardiology · 7
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Prevalence, clinical significance and prognosis value of liver stiffness measurement anomalies in transthyretin cardiac amyloidosis
2024 · Emmanuelle Lointier, Eve Cariou, et al. · International Journal of Cardiology · 7
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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency
2024 · Charlyne Brakta, Anne-Claude Tabet, et al. · Journal of Clinical Immunology · 6
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Chest pain in Brugada syndrome: Prevalence, correlations, and prognosis role
2020 · Fatiha Sebai, Anne Rollin, et al. · Pacing and Clinical Electrophysiology · 5
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
2023 · L. Rhamati, A. Marcolla, et al. · International Journal of Pediatric Otorhinolaryngology · 4
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Aortic valve calcium score from computed tomography for signal localization by cardiac amyloid radionuclide imaging to predict aortic stenosis and assess prognosis in patients with transthyretin cardiomyopathy
2026 · Guillaume Bonnans, Philippe Blanc, et al. · European Journal of Nuclear Medicine and Molecular Imaging · 3
Descriptive study of the clinical and myocardial status of a population with anatomopathological aortic valve amyloidosis
2024 · Jean-Baptiste Brette, Magali Colombat, et al. · Cardiovascular Pathology · 3
A Second Observation of the Rare Frameshift Mutation in the β-Globin Gene: Codon 46 (+A) (Hbb:c.138_139insA)
2011 · Elyes Slim Ghedira, Delphine Dupin-Deguine, et al. · Hemoglobin · 3
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies
2024 · Bérénice Hebrard, Marie-Lise Babonneau, et al. · Orphanet Journal of Rare Diseases · 2
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Works count: 37
Citation count: 802
H-index: 11
I10-index: 13
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