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A. Martins · SciRah

Researcher profile · Semantic Scholar

A. Martins

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A. Martins — researcher profile on SciRah

h-index: 26
Works: 50
Citations: 2,431

Most-cited papers

Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database
B. Thompson, A. Spurdle, J. Plazzer, M. Greenblatt +37 more
2013Nature Genetics478 citations Open access
Semantic Scholar
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects
I. Tournier, M. Vezain, A. Martins, F. Charbonnier +8 more
2008Human Mutation173 citations Open access
Semantic Scholar
Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
P. Gaildrat, A. Killian, A. Martins, I. Tournier +2 more
2010Methods in molecular biology172 citations
Semantic Scholar
Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
O. Soukarieh, P. Gaildrat, Mohamad Hamieh, Aurélie Drouet +4 more
2016PLoS Genetics162 citations Open access
Semantic Scholar
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
C. Bonnet, Sophie Krieger, M. Vezain, Antoine Rousselin +11 more
2008Journal of Medical Genetics130 citations
Semantic Scholar
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
M. Vezain, P. Saugier-Veber, Elisa Goina, R. Touraine +7 more
2010Human Mutation125 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
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
J. Thery, S. Krieger, P. Gaildrat, F. Révillion +11 more
2011European Journal of Human Genetics93 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
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.
B. Harding, A. Moccia, S. Drunat, O. Soukarieh +10 more
2016American Journal of Human Genetics70 citations Open access
Semantic Scholar
Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer
Grégoire Davy, Antoine Rousselin, N. Goardon, L. Castéra +18 more
2017European Journal of Human Genetics52 citations Open access
Semantic Scholar
Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements
Daniela Di Giacomo, P. Gaildrat, A. Abulí, Julie Abdat +3 more
2013Human Mutation52 citations Open access
Semantic Scholar
The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements
P. Gaildrat, S. Krieger, J. Thery, A. Killian +6 more
2010Journal of Medical Genetics49 citations
Semantic Scholar
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
B. Rossi, E. Palmero, F. López-Kostner, C. Sarroca +33 more
2017BMC Cancer48 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
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
R. Leman, Hélène Tubeuf, Sabine Raad, I. Tournier +28 more
2019BMC Genomics39 citations Open access
Semantic Scholar
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants
R. Tricarico, Mariann Kasela, C. Mareni, B. Thompson +16 more
2017Human Mutation38 citations Open access
Semantic Scholar
Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements
Hélène Tubeuf, C. Charbonnier, O. Soukarieh, André Blavier +5 more
2020Human Mutation35 citations Open access
Semantic Scholar
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report
Irene López-Perolio, R. Leman, R. Behar, Vanessa Lattimore +30 more
2019Journal of Medical Genetics31 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
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
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants
P. Gaildrat, S. Lebbah, A. Tebani, Bénédicte Sudrié-Arnaud +12 more
2017Molecular Genetics & Genomic Medicine27 citations Open access
Semantic Scholar
A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays
B. A. Thompson, A. Martins, A. Spurdle
2015Clinical Genetics27 citations
Semantic Scholar
A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy
M. Vezain, B. Gerard, S. Drunat, B. Funalot +7 more
2011Human Mutation27 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
Identification of genetic variants for clinical management of familial colorectal tumors
M. Dominguez-Valentin, S. Nakken, Hélène Tubeuf, D. Vodák +7 more
2018BMC Medical Genetics22 citations Open access
Semantic Scholar
Application of a five-tiered scheme for standardized classification of 2 , 360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database
B. Thompson, A. Spurdle, J. Plazzer, M. Greenblatt +28 more
201321 citations
Semantic Scholar
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer’s Disease Patient
K. Le Guennec, Hélène Tubeuf, D. Hannequin, D. Wallon +10 more
2018Journal of Alzheimer's Disease19 citations
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
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk
Lenka Stolařová, P. Kleiblová, P. Zemánková, Barbora Stastna +106 more
2023Clinical Cancer Research15 citations Open access
Semantic Scholar
Potentially pathogenic germline CHEK2 c.319+2T>A among multiple early-onset cancer families
M. Dominguez-Valentin, S. Nakken, Hélène Tubeuf, D. Vodák +7 more
2017Familial Cancer14 citations
Semantic Scholar
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
M. Dominguez-Valentin, S. Nakken, Hélène Tubeuf, D. Vodák +11 more
2019Scientific Reports13 citations Open access
Semantic Scholar
Predicting the impact of rare variants on RNA splicing in CAGI6
J. Lord, C. J. Oquendo, H. Wai, A. Douglas +23 more
2023bioRxiv12 citations Open access
Semantic Scholar
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group
M. Morak, M. Pineda, A. Martins, P. Gaildrat +12 more
2022European Journal of Human Genetics11 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
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
M. Dominguez-Valentin, D. Evans, S. Nakken, Hélène Tubeuf +8 more
2018Hereditary Cancer in Clinical Practice9 citations Open access
Semantic Scholar
Correction: Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools
O. Soukarieh, P. Gaildrat, Mohamad Hamieh, Aurélie Drouet +4 more
2016PLoS Genetics9 citations Open access
Semantic Scholar
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays and protein analyses: benefits for the accurate diagnosis of congenital hyperinsulinism
C. Saint-Martin, Marine Cauchois-Le Mière, Emily A. Rex, O. Soukarieh +8 more
2021Human Mutation8 citations Open access
Semantic Scholar
Implications of CLSPN Variants in Cellular Function and Susceptibility to Cancer
D. Azenha, S. Hernandez-Perez, Yusé Martín, M. Viegas +5 more
2020Cancers8 citations Open access
Semantic Scholar
Is BRCA2 involved in early onset colorectal cancer risk?
Mathilde Gay-Bellile, M. Privat, A. Martins, S. Caputo +9 more
2019Clinical Genetics8 citations Open access
Semantic Scholar
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
T. Piñero, O. Soukarieh, Marion Rolain, K. Álvarez +17 more
2020Familial Cancer7 citations Open access
Semantic Scholar
P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
M. Parsons, Michael J. Anderson, W. Berkofsky-Fessler, S. Caputo +33 more
2023Genetics in Medicine Open3 citations Open access
Semantic Scholar
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations
Laëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, Gaia Castelain +7 more
2022Journal of Medical Genetics3 citations
Semantic Scholar
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America
B. Rossi, E. Palmero, F. López-Kostner, C. Sarroca +33 more
2017BMC Cancer1 citations Open access
Semantic Scholar
Author response for "Is BRCA2 involved in early onset colorectal cancer risk?"
Mathilde Gay-Bellile, M. Privat, A. Martins, S. Caputo +9 more
20190 citations
Semantic Scholar
Author response for "Is BRCA2 involved in early onset colorectal cancer risk?"
Mathilde Gay-Bellile, M. Privat, A. Martins, S. Caputo +9 more
20190 citations
Semantic Scholar
Aalborg Universitet Full in-frame exon 3 skipping of BRCA 2 confers high risk of breast and / or ovarian cancer
S. Caputo, M. Léoné, F. Damiola, Åsa Ehlén +35 more
20180 citations
Semantic Scholar
University of Southern Denmark Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer French COVAR group collaborators
S. Caputo, M. Léoné, F. Damiola, Åsa Ehlén +35 more
20180 citations
Semantic Scholar
Classification of Genetic Variants
M. Genuardi, E. Holinski-Feder, A. Laner, A. Martins
20180 citations
Semantic Scholar

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