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V. Abadie · SciRah

Researcher profile · Semantic Scholar

V. Abadie

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V. Abadie — researcher profile on SciRah

h-index: 32
Works: 110
Citations: 3,744

Most-cited papers

Association between Zika virus and microcephaly in French Polynesia, 2013–2015: a retrospective study
S. Cauchemez, M. Besnard, P. Bompard, T. Dub +8 more
2016The Lancet910 citations Open access
Semantic Scholar
Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report.
C. Breugem, K. Evans, C. Poets, S. Suri +20 more
2016JAMA pediatrics207 citations Open access
Semantic Scholar
Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia.
M. Besnard, D. Eyrolle-Guignot, P. Guillemette-Artur, S. Lastère +9 more
2016Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin197 citations Open access
Semantic Scholar
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
B. Burton, D. Grange, A. Milanowski, G. Vockley +8 more
2007Journal of Inherited Metabolic Disease181 citations
Semantic Scholar
CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development.
G. Pinto, V. Abadie, R. Mesnage, J. Blustajn +7 more
2005Journal of Clinical Endocrinology and Metabolism133 citations Open access
Semantic Scholar
Effectiveness of Chest Physiotherapy in Infants Hospitalized with Acute Bronchiolitis: A Multicenter, Randomized, Controlled Trial
V. Gajdos, S. Katsahian, N. Beydon, V. Abadie +9 more
2010PLoS Medicine104 citations Open access
Semantic Scholar
Neuropsychologic Functions of Early Treated Patients with Phenylketonuria, on and off Diet: Results of a Cross-National and Cross-Sectional Study
P. Burgard, F. Rey, A. Rupp, V. Abadie +1 more
1997Pediatric Research98 citations
Semantic Scholar
Olfactory Evaluation in Children: Application to the CHARGE Syndrome
C. Chalouhi, P. Faulcon, C. Le Bihan, L. Hertz-Pannier +2 more
2005Pediatrics96 citations Open access
Semantic Scholar
Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development
V. Abadie, S. Wiener-Vacher, M. Morisseau-Durand, C. Porée +5 more
2000European Journal of Pediatrics86 citations
Semantic Scholar
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence
C. Gordon, Catia Attanasio, Shipra Bhatia, S. Benko +13 more
2014Human Mutation81 citations Open access
Semantic Scholar
Brainstem dysfunction: a possible neuroembryological pathogenesis of isolated Pierre Robin sequence
V. Abadie, M. Morisseau-Durand, C. Beyler, Y. Manach +1 more
2002European Journal of Pediatrics79 citations
Semantic Scholar
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
M. Legendre, V. Abadie, T. Attié-Bitach, N. Philip +43 more
2017American Journal of Medical Genetics. Part C, Seminars in Medical Genetics75 citations Open access
Semantic Scholar
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
P. Sartorato, Anne-Laure Lapeyraque, D. Armanini, U. Kuhnle +18 more
2003Journal of Clinical Endocrinology and Metabolism75 citations Open access
Semantic Scholar
Oroesophageal Motor Disorders in Pierre Robin Syndrome
G. Baujat, C. Faure, A. Zaouche, F. Viarme +2 more
2001Journal of Pediatric Gastroenterology and Nutrition - JPGN71 citations Open access
Semantic Scholar
Anderson's disease: exclusion of apolipoprotein and intracellular lipid transport genes.
A. Dannoura, N. Berriot-Varoqueaux, Patricia Amati, V. Abadie +5 more
1999Arteriosclerosis, Thrombosis and Vascular Biology66 citations Open access
Semantic Scholar
Management of phenylketonuria and hyperphenylalaninemia.
H. D. de Baulny, V. Abadie, F. Feillet, L. de Parscau
2007Journal of NutriLife56 citations Open access
Semantic Scholar
Continuous Positive Airway Pressure for Upper Airway Obstruction in Infants with Pierre Robin Sequence
A. Amaddeo, V. Abadie, C. Chalouhi, N. Kadlub +6 more
2016Plastic and Reconstructive Surgery55 citations
Semantic Scholar
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome
C. Gordon, Alice Vuillot, S. Marlin, E. Gerkes +44 more
2013Journal of Medical Genetics51 citations Open access
Semantic Scholar
Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre‐natal diagnosis in a familial lethal form
E. Sbidian, Delphine Feldmann, J. Bengoa, S. Fraitag +4 more
2010Clinical Genetics46 citations
Semantic Scholar
The CHARGE association: the role of tracheotomy.
G. Roger, Marie-Paule Morisseau-Durand, T. Van Den Abbeele, R. Nicollas +5 more
1999Archives of Otolaryngology - Head and Neck Surgery46 citations Open access
Semantic Scholar
Congenital Heart Defects in Patients with Deletions Upstream of SOX9
Marta Sánchez-Castro, C. Gordon, F. Petit, A. Nord +12 more
2013Human Mutation45 citations
Semantic Scholar
Functional Assessment of Disease-Associated Regulatory Variants In Vivo Using a Versatile Dual Colour Transgenesis Strategy in Zebrafish
Shipra Bhatia, C. Gordon, R. Foster, Lucie Melin +7 more
2015PLoS Genetics44 citations Open access
Semantic Scholar
Posttraumatic Stress Reactions in Parents of Children Esophageal Atresia
Morgane Le Gouëz, L. Álvarez, V. Rousseau, P. Hubert +3 more
2016PLoS ONE42 citations Open access
Semantic Scholar
Scurvy: A New Old Cause of Skeletal Pain in Young Children
C. Chalouhi, N. Nicolas, N. Vegas, S. Matczak +3 more
2019Frontiers in Pediatrics41 citations Open access
Semantic Scholar
Hair analysis does not allow to discriminate between acute and chronic administrations of a drug in young children
J. Alvarez, Laetitia Lasne, I. Etting, G. Chéron +3 more
2017Zeitschrift für Rechtsmedizin39 citations
Semantic Scholar
Developmental outcome in Pierre Robin sequence: A longitudinal and prospective study of a consecutive series of severe phenotypes
B. Thouvenin, J. Djadi-Prat, C. Chalouhi, S. Pierrot +3 more
2013American Journal of Medical Genetics. Part A39 citations
Semantic Scholar
Increased paternal age in CHARGE association
A. Tellier, S. Lyonnet, V. Cormier-Daire, P. Lonlay +10 more
1996Clinical Genetics37 citations
Semantic Scholar
Neonatal screening and long-term follow-up of phenylketonuria: the French database.
V. Abadie, J. Berthelot, F. Feillet, N. Maurin +3 more
2001Early Human Development34 citations
Semantic Scholar
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
M. Chopra, Meriel E. Mcentagart, J. Clayton-Smith, K. Platzer +78 more
2021American Journal of Human Genetics33 citations Open access
Semantic Scholar
Severity of Retrognathia and Glossoptosis Does Not Predict Respiratory and Feeding Disorders in Pierre Robin Sequence
A. Morice, V. Soupre, D. Mitanchez, F. Renault +7 more
2018Frontiers in Pediatrics33 citations Open access
Semantic Scholar
Limits of patient isolation measures to control extended-spectrum beta-lactamase–producing Enterobacteriaceae: model-based analysis of clinical data in a pediatric ward
Matthieu Domenech de Cellès, J. Zahar, V. Abadie, D. Guillemot
2013BMC Infectious Diseases33 citations Open access
Semantic Scholar
Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity
Katia Lind, M. Aubry, N. Belarbi, C. Chalouhi +4 more
2015Prenatal Diagnosis25 citations
Semantic Scholar
Congenital feeding and swallowing disorders.
V. Abadie, G. Couly
2013Handbook of Clinical Neurology25 citations
Semantic Scholar
In Vitro Splicing Deficiency Induced by a C to T Mutation at Position −3 in the Intron 10 Acceptor Site of the Phenylalanine Hydroxylase Gene in a Patient with Phenylketonuria(*)
J. Jaruzelska, V. Abadie, Y. D'Aubenton-Carafa, E. Brody +2 more
1995Journal of Biological Chemistry25 citations Open access
Semantic Scholar
Objective measurements for upper airway obstruction in infants with Robin sequence: what are we measuring? A systematic review
Robrecht J H Logjes, J. MacLean, Noor W. de Cort, C. Poets +10 more
2021Journal of Clinical Sleep Medicine (JCSM)22 citations Open access
Semantic Scholar
Safety of Cyproheptadine, an Orexigenic Drug. Analysis of the French National Pharmacovigilance Data-Base and Systematic Review
V. Bertrand, N. Massy, N. Vegas, V. Gras +3 more
2021Frontiers in Pediatrics21 citations Open access
Semantic Scholar
Maternal phenylketonuria: the French survey
F. Feillet, V. Abadie, J. Berthelot, N. Maurin +4 more
2004European Journal of Pediatrics21 citations
Semantic Scholar
[Management of phenylketonuria and hyperphenylalaninemia: the French guidelines].
V. Abadie, J. Berthelot, F. Feillet, N. Maurin +3 more
2005Archives de pédiatrie20 citations
Semantic Scholar
A Program for Weaning Children from Enteral Feeding in a General Pediatric Unit: How, for Whom, and with What Results?
J. Mirete, B. Thouvenin, Gaelle Malecot, Morgane Le Gouëz +6 more
2018Frontiers in Pediatrics19 citations Open access
Semantic Scholar
Efficiency of prenatal diagnosis in Pierre Robin sequence
E. di Pasquo, J. Amiel, P. Roth, V. Malan +7 more
2017Prenatal Diagnosis19 citations
Semantic Scholar
Intellectual and school performances in early-treated classical PKU patients
J. Saudubray, F. Rey, H. Ogier, V. Abadie +5 more
2004European Journal of Pediatrics17 citations
Semantic Scholar
New case of interstitial deletion 12(q15‐q21.2) in a girl with facial dysmorphism and mental retardation
C. Schluth, Roselyne Gesny, G. Borck, R. Redon +5 more
2008American Journal of Medical Genetics. Part A16 citations
Semantic Scholar
Weaning children from prolonged enteral nutrition: A position paper
H. Clouzeau, V. Dipasquale, Laila Rivard, K. Lecoeur +15 more
2021European Journal of Clinical Nutrition14 citations
Semantic Scholar
Haemophagocytic syndrome in Plasmodium falciparum malaria
I. Sermet-Gaudelus, V. Abadie, F. Stambouli, C. Hennequin +2 more
2000Acta paediatrica14 citations
Semantic Scholar
MED13L loss‐of‐function variants in two patients with syndromic Pierre Robin sequence
C. Gordon, M. Chopra, M. Oufadem, O. Alibeu +7 more
2018American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
Sleep study as a diagnostic tool for unexplained respiratory failure in infants hospitalized in the PICU
L. Griffon, A. Amaddeo, Guillaume Mortamet, C. Barnerias +5 more
2017Journal of critical care13 citations
Semantic Scholar
Psychomotor and cognitive impairments of children with CHARGE syndrome: Common and variable features
E. Lasserre, L. Vaivre-Douret, V. Abadie
2013Child Neuropsychology: A Journal of Normal and Abnormal Development in Childhood and Adolescence13 citations
Semantic Scholar
Is monoamine oxydase-B a modifying gene and phenylethylamine a harmful compound in phenylketonuria?
A. Ghozlan, O. Varoquaux, V. Abadie
2004Molecular Genetics and Metabolism13 citations
Semantic Scholar
Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients
B. Thouvenin, V. Soupre, Marie Caillaud, Charlotte Henry-Mestelan +11 more
2021Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays
M. Legendre, M. Rodríguez-Ballesteros, M. Rossi, V. Abadie +22 more
2017European Journal of Human Genetics12 citations Open access
Semantic Scholar

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