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V. Portes · SciRah

Researcher profile · Semantic Scholar

V. Portes

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V. Portes — researcher profile on SciRah

h-index: 27
Works: 77
Citations: 3,192

Most-cited papers

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome.
V. Portes, J. Pinard, P. Billuart, M. Vinet +10 more
1998Cell779 citations Open access
Semantic Scholar
MECP2 is highly mutated in X-linked mental retardation.
P. Couvert, T. Bienvenu, C. Aquaviva, K. Poirier +14 more
2001Human Molecular Genetics293 citations
Semantic Scholar
doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH).
V. Portes, F. Francis, J. Pinard, I. Desguerre +12 more
1998Human Molecular Genetics272 citations
Semantic Scholar
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R. Zemni, T. Bienvenu, M. Vinet, A. Sefiani +22 more
2000Nature Genetics251 citations
Semantic Scholar
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
T. Bienvenu, V. Portes, N. Mcdonell, A. Carrié +12 more
2000American journal of medical genetics144 citations
Semantic Scholar
Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia
G. Zanni, Y. Saillour, M. Nagara, P. Billuart +10 more
2005Neurology110 citations
Semantic Scholar
Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
S. Dimassi, A. Labalme, D. Ville, A. Calender +17 more
2016Clinical Genetics82 citations
Semantic Scholar
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations
L. Lion-Francois, C. Mignot, S. Vicart, V. Manel +8 more
2010Neurology79 citations
Semantic Scholar
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Thierry Bienvenu, V. Portes, A. Martin, N. Mcdonell +12 more
1998Human Molecular Genetics74 citations Open access
Semantic Scholar
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.
Marie Le Roux, M. Barth, S. Guéden, P. Desbordes de Cepoy +22 more
2021European journal of paediatric neurology67 citations Open access
Semantic Scholar
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin‐1 gene
V. Portes, N. Boddaert, S. Sacco, S. Briault +9 more
2004American Journal of Medical Genetics. Part A66 citations
Semantic Scholar
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia
Y. Saillour, G. Zanni, V. Portes, D. Heron +11 more
2007Journal of Medical Genetics64 citations Open access
Semantic Scholar
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel +496 more
2025The Lancet Regional Health - Europe61 citations Open access
Semantic Scholar
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
V. Portes, J. Pinard, D. Smadja, J. Motte +13 more
1997Journal of Medical Genetics59 citations Open access
Semantic Scholar
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
M. Miguet, L. Faivre, J. Amiel, M. Nizon +83 more
2018Journal of Medical Genetics58 citations Open access
Semantic Scholar
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
A. Quartier, Hélène Poquet, B. Gilbert-Dussardier, M. Rossi +27 more
2017European Journal of Human Genetics58 citations Open access
Semantic Scholar
Prenatal diagnosis of ‘isolated’ Dandy–Walker malformation: imaging findings and prenatal counselling
L. Guibaud, Anne Larroque, D. Ville, D. Sanlaville +4 more
2012Prenatal Diagnosis53 citations
Semantic Scholar
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males
D. Germanaud, Massimiliano Rossi, G. Bussy, D. Gérard +11 more
2011Clinical Genetics53 citations
Semantic Scholar
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
S. Heide, M. Spentchian, S. Valence, J. Buratti +42 more
2020Genetics in Medicine50 citations Open access
Semantic Scholar
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
D. Cheillan, M. J. Curt, G. Briand, G. Salomons +27 more
2012Orphanet Journal of Rare Diseases43 citations Open access
Semantic Scholar
MECP 2 is highly mutated in X-linked mental retardation
P. Couvert, T. Bienvenu, C. Aquaviva, K. Poirier +14 more
200139 citations
Semantic Scholar
Simplified gyral pattern in severe developmental microcephalies? New insights from allometric modeling for spatial and spectral analysis of gyrification
D. Germanaud, J. Lefévre, C. Fischer, M. Bintner +12 more
2014NeuroImage35 citations Open access
Semantic Scholar
RPL10 mutation segregating in a family with X‐linked syndromic Intellectual Disability
J. Thevenon, C. Michot, C. Bole, P. Nitschké +7 more
2015American Journal of Medical Genetics. Part A34 citations
Semantic Scholar
Pineal region tumors: Clinical symptoms and syndromes.
C. Rousselle, V. Portes, P. Berlier, C. Mottolese
2015Neuro-chirurgie29 citations
Semantic Scholar
Implicit procedural learning in fragile X and Down syndrome.
G. Bussy, È. Charrin, Amandine Brun, A. Curie +1 more
2011Journal of Intellectual Disability Research29 citations
Semantic Scholar
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation.
P. Billuart, M. Vinet, V. Portes, Stéphane Llense +8 more
1996Human Molecular Genetics28 citations Open access
Semantic Scholar
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients
S. El Chehadeh, L. Faivre, Anne-Laure Mosca-Boidron, V. Malan +54 more
2016American Journal of Medical Genetics. Part A27 citations
Semantic Scholar
Fragile X syndrome: economic burden and health-related quality of life of patients and caregivers in France.
K. Chevreul, K. Brigham, M. Brunn, V. Portes
2015Journal of Intellectual Disability Research24 citations
Semantic Scholar
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 Gene
S. Frints, Jun Lin, J. Fryns, K. Devriendt +14 more
2003American Journal of Medical Genetics. Part A24 citations
Semantic Scholar
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
S. El Chehadeh, R. Touraine, F. Prieur, W. Reardon +39 more
2017Clinical Genetics22 citations
Semantic Scholar
Movement disorders in patients with alternating hemiplegia
E. Panagiotakaki, D. Doummar, E. Nogué, N. Nagot +17 more
2020Neurology17 citations Open access
Semantic Scholar
A gene for dominant nonspecific X-linked mental retardation is located in Xq28.
V. Portes, P. Billuart, Alain Carrié, L. Bachner +7 more
1997American Journal of Human Genetics17 citations
Semantic Scholar
Epigenetic modification of the FMR1 gene in fragile X patients leads to a differential response to the mGluR5 antagonist AFQ056
S. Jacquemont, A. Curie, V. Portes, M. Torrioli +6 more
201116 citations
Semantic Scholar
So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation.
V. Portes, I. Souville, F. Francis, J. Pinard +5 more
2002Seizure16 citations Open access
Semantic Scholar
Inherited microdeletion in Xp21.3–22.1 involved in non‐specific mental retardation
V. Portes, A. Carrié, Pierre Billuare, V. Kieffer +7 more
1998Clinical Genetics13 citations
Semantic Scholar
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype
Toan Nguyen, S. Heide, L. Guilbaud, S. Valence +23 more
2023Prenatal Diagnosis12 citations
Semantic Scholar
Neuropathological features in a female fetus with OPHN1 deletion and cerebellar hypoplasia.
D. Rocas, E. Alix, J. Michel, M. Cordier +12 more
2013European Journal of Medical Genetics12 citations
Semantic Scholar
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11.
S. C. Deqaqi, M. N’guessan, J. Forner, A. Sbiti +4 more
1998Annales de Genetique12 citations
Semantic Scholar
Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
M. Faoucher, A. Poulat, N. Chatron, A. Labalme +8 more
2019Molecular Genetics and Metabolism Reports9 citations Open access
Semantic Scholar
Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
D. Ville, G. Lesca, A. Labalme, V. Portes +2 more
2020Epileptic disorders8 citations Open access
Semantic Scholar
X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.
V. Portes, L. Bachner, T. Brüls, C. Beldjord +10 more
1996American journal of medical genetics8 citations
Semantic Scholar
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
E. Panagiotakaki, F. Tiziano, M. Mikati, L. Vijfhuizen +20 more
2023European Journal of Human Genetics7 citations Open access
Semantic Scholar
A french adaptation of the vineland adaptive behavior scales VABS-II
N. Touil, B. Riche, V. Portes, S. Mardirossian +4 more
2021European psychiatry7 citations Open access
Semantic Scholar
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters
M. Spentchian, S. Valence, J. Buratti, C. +48 more
2020European Journal of Human Genetics6 citations Open access
Semantic Scholar
Familial bilateral medial parietooccipital band heterotopia not related to DCX or LIS1 gene defects.
N. Deconinck, T. Duprez, V. Portes, C. Beldjord +3 more
2003Neuropediatrics6 citations
Semantic Scholar
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
Z. Gokce-Samar, J. de Bellescize, A. Arzimanoglou, A. Putoux +3 more
2022European Journal of Medical Genetics5 citations Open access
Semantic Scholar
The French Version of the DABS: Adaptation Process and Preliminary Field Test.
Lorna von Rotz, Y. Courbois, V. Portes, A. Lacroix +5 more
2023American Journal on Intellectual and Developmental Disabilities4 citations
Semantic Scholar
Introducing the COVID-19 crisis Special Education Needs Coping Survey
Daniel Dukes, J. Van Herwegen, M. Alessandri, Faisal Al Nemary +60 more
20214 citations Open access
Semantic Scholar
Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis.
P. V. D. van der Valk, I. Snoeck, L. Meiners, V. Portes +5 more
1999Neuropediatrics3 citations
Semantic Scholar
Fragile X and X-linked Mental Retardation
S. Jacquemont, R. Hagerman, V. Portes
20052 citations
Semantic Scholar

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