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S. Caputo · SciRah

Researcher profile · Semantic Scholar

S. Caputo

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S. Caputo — researcher profile on SciRah

h-index: 29
Works: 100
Citations: 2,787

Most-cited papers

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations
T. Rebbeck, T. Friebel, E. Friedman, U. Hamann +238 more
2018Human Mutation299 citations Open access
Semantic Scholar
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants
Shuai Li, Valentina Silvestri, Goska Leslie, T. Rebbeck +98 more
2022Journal of Clinical Oncology239 citations Open access
Semantic Scholar
Human Mutation
M. Parsons, Emma Tudini, Hong-Yan Li, E. Hahnen +89 more
2019154 citations
Semantic Scholar
A Guide for Functional Analysis of BRCA1 Variants of Uncertain Significance (VUS)
G. Millot, M. A. Carvalho, S. Caputo, M. Vreeswijk +11 more
2012Human Mutation134 citations Open access
Semantic Scholar
Functional assays for analysis of variants of uncertain significance in BRCA2
L. Guidugli, A. Carreira, S. Caputo, Åsa Ehlén +6 more
2013Human Mutation119 citations Open access
Semantic Scholar
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
A. Spurdle, P. Whiley, B. Thompson, Bing Feng +30 more
2012Journal of Medical Genetics118 citations Open access
Semantic Scholar
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
M. Parsons, M. de la Hoya, Marcy E. Richardson, Emma Tudini +39 more
2024medRxiv99 citations Open access
Semantic Scholar
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
M. de la Hoya, O. Soukarieh, Irene López-Perolio, A. Vega +71 more
2016Human Molecular Genetics94 citations Open access
Semantic Scholar
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases
S. Caputo, L. Benboudjema, O. Sinilnikova, E. Rouleau +2 more
2011Nucleic Acids Res.94 citations Open access
Semantic Scholar
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
R. Leman, B. Parfait, D. Vidaud, E. Girodon +32 more
2022Human Mutation89 citations Open access
Semantic Scholar
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
R. Leman, P. Gaildrat, G. Le Gac, C. Ka +30 more
2018Nucleic Acids Research85 citations Open access
Semantic Scholar
The Carboxyl-terminal Nucleoplasmic Region of MAN1 Exhibits a DNA Binding Winged Helix Domain*
S. Caputo, J. Couprie, I. Duband-Goulet, Emilie Kondé +6 more
2006Journal of Biological Chemistry69 citations Open access
Semantic Scholar
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
S. Moghadasi, Huong D. Meeks, M. Vreeswijk, L. A. Janssen +36 more
2017Journal of Medical Genetics66 citations Open access
Semantic Scholar
BRCA Share: A Collection of Clinical BRCA Gene Variants
C. Béroud, Stanley I. Letovsky, Corey D. Braastad, S. Caputo +33 more
2016Human Mutation57 citations Open access
Semantic Scholar
Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations
L. Golmard, C. Delnatte, A. Laugé, V. Moncoutier +23 more
2016Oncogene56 citations
Semantic Scholar
S1 Ribosomal Protein Functions in Translation Initiation and Ribonuclease RegB Activation Are Mediated by Similar RNA-Protein Interactions
Pascale Aliprandi, C. Sizun, J. Pérez, F. Mareuil +6 more
2008Journal of Biological Chemistry50 citations Open access
Semantic Scholar
Multiple sequence variants of BRCA2 exon 7 alter splicing regulation
P. Gaildrat, S. Krieger, Daniela Di Giacomo, Julie Abdat +14 more
2012Journal of Medical Genetics47 citations
Semantic Scholar
The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress
V. Verstraeten, S. Caputo, M. V. van Steensel, I. Duband-Goulet +13 more
2009Journal of Cellular and Molecular Medicine47 citations Open access
Semantic Scholar
Genetic Landscape of Male Breast Cancer
F. Campos, E. Rouleau, G. Torrezan, D. Carraro +7 more
2021Cancers45 citations Open access
Semantic Scholar
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
G. Figlioli, M. Bogliolo, Irene Catucci, Laura Caleca +473 more
2019npj Breast Cancer41 citations Open access
Semantic Scholar
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.
F. Qian, Sheng-Feng Wang, Jonathan A. Mitchell, L. McGuffog +143 more
2018Journal of the National Cancer Institute38 citations Open access
Semantic Scholar
The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
Inge M. M. Lakeman, A. J. van den Broek, J. A. Vos, D. Barnes +210 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Juliette Coignard, M. Lush, J. Beesley, T. O'Mara +388 more
2021Nature Communications37 citations Open access
Semantic Scholar
BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Ankita Jhuraney, Aneliya Velkova, Randall C. Johnson, B. Kessing +26 more
2015Journal of Medical Genetics37 citations Open access
Semantic Scholar
Structural analysis of the Smad2-MAN1 interaction that regulates transforming growth factor-β signaling at the inner nuclear membrane.
Emilie Kondé, Benjamin M. R. Bourgeois, Carine Tellier-Lebègue, Wei Wu +8 more
2010Biochemistry35 citations
Semantic Scholar
Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk
Ambre Petitalot, E. Dardillac, E. Jacquet, N. Nhiri +14 more
2018Molecular Cancer Research32 citations
Semantic Scholar
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Hong-Yan Li, C. Engel, M. de la Hoya, P. Peterlongo +57 more
2021Genetics in Medicine31 citations Open access
Semantic Scholar
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
S. Caputo, L. Golmard, M. Léoné, F. Damiola +156 more
2021American Journal of Human Genetics30 citations Open access
Semantic Scholar
An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition
D. Muller, E. Rouleau, I. Schultz, S. Caputo +9 more
2011BMC Medical Genetics29 citations Open access
Semantic Scholar
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
Laëtitia Meulemans, Romy L. S. Mesman, S. Caputo, S. Krieger +27 more
2020Cancer Research28 citations
Semantic Scholar
"Decoding hereditary breast cancer" benefits and questions from multigene panel testing.
C. Colas, L. Golmard, A. de Pauw, S. Caputo +1 more
2019Breast28 citations Open access
Semantic Scholar
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer
S. Caputo, M. Léoné, F. Damiola, Åsa Ehlén +31 more
2018OncoTarget28 citations Open access
Semantic Scholar
Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system
Hélène Tubeuf, S. Caputo, Teresa L. Sullivan, Julie Rondeaux +34 more
2020Cancer Research26 citations Open access
Semantic Scholar
Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition
E. Santana dos Santos, F. Lallemand, L. Burke, D. Stoppa-Lyonnet +3 more
2018Cancers26 citations Open access
Semantic Scholar
Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition
E. Rouleau, B. Jesson, A. Briaux, C. Noguès +23 more
2012Breast Cancer Research and Treatment25 citations
Semantic Scholar
HRness in Breast and Ovarian Cancers
E. Santana dos Santos, F. Lallemand, Ambre Petitalot, S. Caputo +1 more
2020International Journal of Molecular Sciences23 citations Open access
Semantic Scholar
Involvement of the FOXO6 transcriptional factor in breast carcinogenesis
F. Lallemand, Ambre Petitalot, S. Vacher, L. de Koning +9 more
2017OncoTarget19 citations Open access
Semantic Scholar
Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA 1 / BRCA 2 databases
S. Caputo, L. Benboudjema, O. Sinilnikova, E. Rouleau +2 more
201118 citations
Semantic Scholar
A missense variant within BRCA1 exon 23 causing exon skipping.
E. Rouleau, C. Lefol, V. Moncoutier, L. Castéra +8 more
2010Cancer Genetics and Cytogenetics18 citations
Semantic Scholar
Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I
M. W. al Sebai, D. Tulasne, S. Caputo, V. Verkarre +22 more
2021Human Mutation17 citations Open access
Semantic Scholar
Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition
E. S. Santos, S. Caputo, L. Castéra, M. Gendrot +14 more
2018Breast Cancer Research and Treatment17 citations
Semantic Scholar
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
M. Filser, Mathias Schwartz, Kévin Merchadou, A. Hamza +13 more
2023Journal of Medical Genetics16 citations Open access
Semantic Scholar
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
R. Leman, P. Gaildrat, G. L. Gac, C. Ka +30 more
2018Nucleic Acids Research16 citations Open access
Semantic Scholar
BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding
L. Burke, J. Ševčík, G. Gambino, Emma Tudini +33 more
2018Human Mutation16 citations Open access
Semantic Scholar
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Yue Jiao, T. Truong, Séverine Eon-Marchais, N. Mebirouk +56 more
2022European Journal of Cancer15 citations Open access
Semantic Scholar
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
M. Parsons, Emma Tudini, Hong-Yan Li, E. Hahnen +217 more
2019Human Mutation15 citations Open access
Semantic Scholar
GEMO, a National Resource to Study Genetic Modifiers of Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers
F. Lesueur, N. Mebirouk, Y. Jiao, L. Barjhoux +34 more
2018Frontiers in Oncology15 citations Open access
Semantic Scholar
5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
S. Caputo, D. Telly, A. Briaux, J. Sesen +22 more
2021Cancers12 citations Open access
Semantic Scholar
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network
M. Buisine, C. Bellanné-Chantelot, N. Calmels, C. Vaché +14 more
2025European Journal of Human Genetics10 citations Open access
Semantic Scholar
Value of the loss of heterozygosity to BRCA1 variant classification
E. Santana dos Santos, A. Spurdle, D. Carraro, A. Briaux +21 more
2022npj Breast Cancer10 citations Open access
Semantic Scholar

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