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P. Calvas · SciRah

Researcher profile · Semantic Scholar

P. Calvas

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P. Calvas — researcher profile on SciRah

h-index: 51
Works: 218
Citations: 9,047

Most-cited papers

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy
I. Perrault, S. Hanein, X. Zanlonghi, V. Serre +19 more
2012Nature Genetics139 citations
Semantic Scholar
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.
S. Gerber, K. Alzayady, L. Burglen, D. Bremond-Gignac +26 more
2016American Journal of Human Genetics137 citations Open access
Semantic Scholar
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, M. Hammer, G. Stevanin, M. Monin +31 more
2018JAMA Neurology124 citations Open access
Semantic Scholar
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
S. Faguer, N. Chassaing, F. Bandin, Cathie Prouheze +7 more
2014Kidney International121 citations Open access
Semantic Scholar
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia
N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye +23 more
2014Clinical Genetics121 citations Open access
Semantic Scholar
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
J. Plaisancié, F. Ceroni, R. Holt, C. Z. Seco +3 more
2019Human Genetics105 citations Open access
Semantic Scholar
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
L. Fares-Taie, S. Gerber, N. Chassaing, J. Clayton-Smith +17 more
2013American Journal of Human Genetics104 citations Open access
Semantic Scholar
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.
M. Srour, D. Chitayat, V. Caron, N. Chassaing +12 more
2013American Journal of Human Genetics101 citations Open access
Semantic Scholar
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Marie Coutelier, C. Goizet, A. Durr, F. Habarou +30 more
2015Brain : a journal of neurology90 citations Open access
Semantic Scholar
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
A. Knaus, J. Pantel, M. Pendziwiat, Nurulhuda Hajjir +32 more
2017Genome Medicine81 citations Open access
Semantic Scholar
Genetic factors for choroidal neovascularization associated with high myopia.
N. Leveziel, Yi Yu, Robyn C. Reynolds, A. Tai +7 more
2012Investigative Ophthalmology and Visual Science64 citations Open access
Semantic Scholar
OTX2 mutations contribute to the otocephaly-dysgnathia complex
N. Chassaing, Susanna Sorrentino, E. Davis, D. Martin-Coignard +20 more
2012Journal of Medical Genetics63 citations
Semantic Scholar
Delayed‐onset Friedreich's ataxia revisited
C. Lecocq, P. Charles, J. Azulay, W. Meissner +25 more
2016Movement Disorders60 citations
Semantic Scholar
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
S. El Chehadeh, W. Kerstjens-Frederikse, J. Thevenon, P. Kuentz +26 more
2016European Journal of Human Genetics59 citations Open access
Semantic Scholar
Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
B. Bocquet, A. Lacroux, M. Surget, C. Baudoin +27 more
2013Ophthalmic Epidemiology59 citations
Semantic Scholar
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases
M. Mallaret, M. Renaud, C. Redin, N. Drouot +21 more
2016Journal of Neurology58 citations
Semantic Scholar
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
J. Plaisancié, I. Bailleul‐Forestier, V. Gaston, F. Vaysse +18 more
2013American Journal of Medical Genetics. Part A58 citations
Semantic Scholar
Lessons learned from 40 novel PIGA subjects and a review of the literature.
A. Bayat, A. Knaus, M. Pendziwiat, A. Afenjar +50 more
2020Epilepsia54 citations Open access
Semantic Scholar
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Kathleen Williamson, H. Hall, L. Owen, B. Livesey +27 more
2019Genetics in Medicine53 citations Open access
Semantic Scholar
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
N. Ragge, B. Isidor, P. Bitoun, S. Odent +25 more
2018Human Genetics53 citations Open access
Semantic Scholar
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype
M. Barat-Houari, B. Dumont, A. Fabre, Frédéric TM Them +51 more
2015European Journal of Human Genetics52 citations Open access
Semantic Scholar
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies
F. Ceroni, Domingo Aguilera-Garcia, N. Chassaing, D. Bax +27 more
2018Human Genetics51 citations Open access
Semantic Scholar
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis
V. Soler, Khanh-Nhat Tran-Viet, S. Galiacy, Vachiranee Limviphuvadh +18 more
2013Journal of Medical Genetics50 citations Open access
Semantic Scholar
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
R. Holt, R. Young, B. Crespo, F. Ceroni +30 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
N. Chassaing, E. Davis, Kelly L. McKnight, Adrienne R Niederriter +16 more
2016Genome Research46 citations Open access
Semantic Scholar
Exonic deletions of FXN and early-onset Friedreich ataxia.
M. Anheim, L. Mariani, P. Calvas, E. Cheuret +9 more
2012Archives of Neurology46 citations Open access
Semantic Scholar
Implication of non-coding PAX6 mutations in aniridia
J. Plaisancié, M. Tarilonte, P. Ramos, C. Jeanton-Scaramouche +15 more
2018Human Genetics44 citations
Semantic Scholar
Mini‐Exome Coupled to Read‐Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias
C. Marelli, C. Guissart, C. Hubsch, M. Renaud +30 more
2016Human Mutation40 citations Open access
Semantic Scholar
Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia
N. Chassaing, N. Ragge, A. Kariminejad, A. Buffet +3 more
2013Clinical Genetics40 citations
Semantic Scholar
Functional classification of ATM variants in ataxia‐telangiectasia patients
A. Fiévet, D. Bellanger, Guillaume Rieunier, C. Dubois d'Enghien +42 more
2019Human Mutation39 citations Open access
Semantic Scholar
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia
N. Chassaing, N. Ragge, J. Plaisancié, O. Patat +6 more
2016American Journal of Medical Genetics. Part A37 citations Open access
Semantic Scholar
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
F. Hawthorne, Sheng Feng, R. Metlapally, Yi-Ju Li +10 more
2013Investigative Ophthalmology and Visual Science36 citations Open access
Semantic Scholar
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Giulia Coarelli, Anna Heinzmann, C. Ewenczyk, C. Fischer +16 more
2022Lancet Neurology33 citations Open access
Semantic Scholar
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
M. Benkirane, C. Marelli, C. Guissart, A. Roubertie +81 more
2021Genetics in Medicine32 citations Open access
Semantic Scholar
FOXE3 mutations: genotype‐phenotype correlations
J. Plaisancié, N. Ragge, H. Dollfus, J. Kaplan +6 more
2018Clinical Genetics32 citations Open access
Semantic Scholar
Genetic Advances in Microphthalmia
J. Plaisancié, P. Calvas, N. Chassaing
2016Journal of Pediatric Genetics32 citations Open access
Semantic Scholar
ATP8A2-related disorders as recessive cerebellar ataxia
C. Guissart, A. Harrison, M. Benkirane, I. Oncel +12 more
2019Journal of Neurology25 citations
Semantic Scholar
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Bertrand Chesneau, M. Aubert-Mucca, F. Fremont, J. Pechméja +41 more
2022Clinical Genetics24 citations Open access
Semantic Scholar
Distal 10q monosomy: new evidence for a neurobehavioral condition?
J. Plaisancié, L. Bouneau, C. Cancés, C. Garnier +7 more
2014European Journal of Medical Genetics23 citations
Semantic Scholar
Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
A. Scott, David W. Mohr, L. Kasch, J. Barton +11 more
2014JAMA ophthalmology22 citations
Semantic Scholar
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
L. Cayrefourcq, M. Vincent, S. Pierredon, C. Moutou +23 more
2020Scientific Reports20 citations Open access
Semantic Scholar
Identification of PITX3 mutations in individuals with various ocular developmental defects
Celia Zazo Seco, J. Plaisancié, Tatiana Lupasco, C. Michot +8 more
2018Ophthalmic Genetics19 citations Open access
Semantic Scholar
Incomplete penetrance of biallelic ALDH1A3 mutations.
J. Plaisancié, D. Bremond-Gignac, B. Demeer, V. Gaston +6 more
2016European Journal of Medical Genetics19 citations
Semantic Scholar
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling
R. Mieusset, I. Fauquet, D. Chauveau, L. Monteil +9 more
2017JN. Journal of Nephrology (Milano. 1992)18 citations
Semantic Scholar
Submicroscopic deletions at 13q32.1 cause congenital microcoria.
L. Fares-Taie, S. Gerber, A. Tawara, A. Ramirez-Miranda +25 more
2015American Journal of Human Genetics18 citations Open access
Semantic Scholar
An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error
D. Abbott, Yi-Ju Li, J. Guggenheim, R. Metlapally +8 more
2012Molecular Vision18 citations
Semantic Scholar
Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma
M. Aubert-Mucca, J. Pernin-Grandjean, Sébastien Marchasson, V. Gaston +12 more
2020European Journal of Human Genetics17 citations Open access
Semantic Scholar
Searching for secondary findings: considering actionability and preserving the right not to know
B. Isidor, S. Julia, P. Saugier-Veber, P.-L. Weil-Dubuc +22 more
2019European Journal of Human Genetics14 citations Open access
Semantic Scholar
Myopia and iris colour: a possible connection?
W. Meng, J. Butterworth, P. Calvas, F. Malecaze
2012Medical Hypotheses13 citations
Semantic Scholar
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
A. Tamayo, Gonzalo Núñez-Moreno, C. Ruíz, J. Plaisancié +7 more
2023International Journal of Molecular Sciences12 citations Open access
Semantic Scholar

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