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Véronique Darmency

Observed names: DARMENCY STAMBOUL, Véronique, Darmency, V., Darmency, Veronique, V Stamboul-Darmency, V. Darmency Stamboul, V. Darmency-Stamboul, V. Darmency‐Stamboul, Veronique Darmency, Veronique Stamboul-Darmency, Véronique Darmency-Stamboul, Véronique Darmency‐Stamboul
Institution: CHU Dijon Bourgogne
OpenAlex ID: A5083258478
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
2016 · J. Thevenon, Y. Duffourd, et al. · Clinical Genetics · 260
The landscape of epilepsy-related GATOR1 variants
2018 · Sara Baldassari, Fabienne Picard, et al. · Genetics in Medicine · 241
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Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
2014 · Julien Thevenon, Mathieu Milh, et al. · The American Journal of Human Genetics · 139
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C5orf42 is the major gene responsible for OFD syndrome type VI
2013 · Estelle Lopez, Christel Thauvin-Robinet, et al. · Human Genetics · 90
Antenatal Factors Associated With Perinatal Arterial Ischemic Stroke
2012 · Véronique Darmency-Stamboul, Corinne Chantegret, et al. · Stroke · 86
CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
2014 · Ennio Del Giudice, Marina Macca, et al. · Orphanet Journal of Rare Diseases · 41
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Expanding the clinical phenotype of patients with a ZDHHC9 mutation
2013 · Alice Masurel‐Paulet, Vera M. Kalscheuer, et al. · American Journal of Medical Genetics Part A · 35
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Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
2021 · Virginie Carmignac, Cyril Mignot, et al. · Genetics in Medicine · 31
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Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations
2018 · Mirna Assoum, Matthew A. Lines, et al. · American Journal of Medical Genetics Part A · 29
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
2013 · Véronique Darmency-Stamboul, Lydie Burglen, et al. · European Journal of Medical Genetics · 22
Accidents vasculaires cérébraux ischémiques artériels néonatals : synthèse des recommandations
2016 · E. Saliba, T. Debillon, et al. · Archives de Pédiatrie · 20
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Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood
2014 · Marie Giroud, Benoît Daubail, et al. · European Neurology · 14
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
2023 · Fanny Mochel, Domitille Gras, et al. · Neurology · 13
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Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation
2020 · Nawale Hadouiri, Veronique Darmency, et al. · European Journal of Medical Genetics · 13
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Correction: The landscape of epilepsy-related GATOR1 variants
2018 · Sara Baldassari, Fabienne Picard, et al. · Genetics in Medicine · 12
Accident vasculaire cérébral ischémique artériel chez le nouveau-né à terme ou proche du terme : prévalence et facteurs de risque
2017 · V. Darmency-Stamboul, A.G. Cordier, et al. · Archives de Pédiatrie · 12
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
2021 · Julian Delanne, Ange-Line Bruel, et al. · Molecular Genetics and Metabolism Reports · 8
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Accidents vasculaires cérébraux de l’enfant : une urgence médicale qui doit bénéficier des filières neurovasculaires régionales mises en place par le Plan National AVC
2012 · Marie Hervieu-Bégue, Agnès Jacquin, et al. · La Presse Médicale · 6
Contribution of three‐dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)
2009 · Véronique Darmency, Christel Thauvin‐Robinet, et al. · Prenatal Diagnosis · 5
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18
2021 · Nawale Hadouiri, Quentin Thomas, et al. · Clinical Genetics · 4
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants
2022 · Benoit Mazel, Delphine Mallet, et al. · American Journal of Medical Genetics Part A · 3
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Exome sequencing in severe non-syndromic specific learning and language disorders in a French cohort
2025 · Eléonore Viora-Dupont, Julian Delanne, et al. · Molecular Autism · 2
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Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
2021 · Virginie Carmignac, Cyril Mignot, et al. · Genetics in Medicine · 2
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
2024 · Marlène Malbos, Emma Wakeling, et al. · Clinical Genetics · 1
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Correction to: The landscape of epilepsy-related GATOR1 variants
2018 · Sara Baldassari, Fabienne Picard, et al. · Genetics in Medicine · 1
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Works count: 38
Citation count: 1,091
H-index: 13
I10-index: 16
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