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P. Gaildrat · SciRah

Researcher profile · Semantic Scholar

P. Gaildrat

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P. Gaildrat — researcher profile on SciRah

h-index: 26
Works: 41
Citations: 1,943

Most-cited papers

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
C. Houdayer, V. Caux-Moncoutier, S. Krieger, M. Barrois +24 more
2012Human Mutation248 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
Night/Day Changes in Pineal Expression of >600 Genes
Michael J. Bailey, S. Coon, D. Carter, A. Humphries +14 more
2009Journal of Biological Chemistry146 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
Developmental and diurnal dynamics of Pax4 expression in the mammalian pineal gland: nocturnal down-regulation is mediated by adrenergic-cyclic adenosine 3',5'-monophosphate signaling.
M. F. Rath, Michael J. Bailey, Jong-So Kim, A. Ho +4 more
2009Endocrinology58 citations Open access
Semantic Scholar
Melatonin Receptors in the Pituitary of a Teleost Fish: mRNA Expression, 2-[125I]Iodomelatonin Binding and Cyclic AMP Response
P. Gaildrat, J. Falcón
2000Neuroendocrinology58 citations
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
Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy‐Like Phenotype
F. Puppo, E. Dionnet, Marie-Cécile Gaillard, P. Gaildrat +13 more
2015Human Mutation48 citations
Semantic Scholar
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP
A. Lagarde, E. Rouleau, A. Ferrari, T. Noguchi +10 more
2010Journal of Medical Genetics48 citations
Semantic Scholar
Pineal Function: Impact of Microarray Analysis
D. Klein, Michael J. Bailey, D. Carter, Jong-So Kim +13 more
2009Molecular and Cellular Endocrinology48 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
First cloning and functional characterization of a melatonin receptor in fish brain: a novel one?
P. Gaildrat, F. Becq, J. Falcón
2002Journal of Pineal Research46 citations
Semantic Scholar
Daily and Circadian Variations in 2‐[125I]‐Iodomelatonin Binding Sites in the Pike Brain (Esox Iucius)
P. Gaildrat, B. Ron, J. Falcón
1998Journal of neuroendocrinology42 citations
Semantic Scholar
Daily rhythm in pineal phosphodiesterase (PDE) activity reflects adrenergic/3',5'-cyclic adenosine 5'-monophosphate induction of the PDE4B2 variant.
Jong-So Kim, Michael J. Bailey, A. Ho, M. Møller +2 more
2007Endocrinology41 citations Open access
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
A Novel Pineal-specific Product of the Oligopeptide Transporter PepT1 Gene
P. Gaildrat, M. Møller, S. Mukda, A. Humphries +3 more
2005Journal of Biological Chemistry32 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
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
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
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
Variations in cyclic adenosine 3′,5′-monophosphate and cyclic guanosine 3′,5′-monophosphate content and efflux from the photosensitive pineal organ of the pike in culture
Jack Falcón, P. Gaildrat
1996Pflügers Archiv18 citations
Semantic Scholar
UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families
P. Grandval, A. Fabre, P. Gaildrat, S. Baert-Desurmont +5 more
2013Database J. Biol. Databases Curation17 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
Neural Adrenergic/Cyclic AMP Regulation of the Immunoglobulin E Receptor α-Subunit Expression in the Mammalian Pinealocyte
Surajit Ganguly, C. Grodzki, D. Sugden, M. Møller +6 more
2007Journal of Biological Chemistry16 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
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
Mutational analysis of JAK2, CBL, RUNX1, and NPM1 genes in familial aggregation of hematological malignancies
W. Hamadou, V. Bourdon, P. Gaildrat, Sawsen Besbes +17 more
2016Annals of Hematology5 citations
Semantic Scholar
Genomic variations integrated database for MUTYH-associated adenomatous polyposis
P. Grandval, A. Fabre, P. Gaildrat, S. Baert-Desurmont +10 more
2014Journal of Medical Genetics4 citations
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
Identification of variants in the 4 q 35 gene FAT 1 in patients with a Facioscapulohumeral dystrophy ( FSHD )-like phenotype
F. Puppo, E. Dionnet, Marie-Cécile Gaillard, P. Gaildrat +13 more
20151 citations
Semantic Scholar
Down‐regulation of the Pineal Response to Adrenergic Stimulation Mediated by cAMP Induction of Phosphodiesterase 4B2
Jong-So Kim, Anthony K. Ho, M. Møller, P. Gaildrat +1 more
20060 citations
Semantic Scholar
EXPRESSION OF MELATONIN RECEPTORS IN THE PITUITARY OF A TELEOST FISH AND 2-( 125 I)IODOMELATONIN BINDING SITES
P. Gaildrat, J. Falcón, C. Umr
20000 citations
Semantic Scholar

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