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S

Sophie Krieger

Leiden University
H指数:29
被引数:3,111

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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

RNA剪接证据能够实现BRCA1外显子18变异的稳健分类：ENIGMA联盟的研究结果

American Journal of Human Genetics
IF8.1
2026-09-010
PRE
Domenech-Vivo, Joanna; Tubeuf, Helene; Mesman, Romy L. S.; Drouet, Aurelie; Girardi, Melanie; Alonso-Cerezo, Maria Concepcion; Baralle, Diana; Boutry-Kryza, Nadia; Bunyan, David J.; Byers, Helen J.; Caputo, Sandrine M.; Claes, Kathleen B. M.; De la Hoya, Miguel; Evans, D. Gareth; Fresard, Laure; Krieger, Sophie; Lazaro, Conxi; Leone, Melanie; Machackova, Eva; Menendez, Mireia; Moles-Fernandez, Alejandro; Montalban, Gemma; Mundt, Erin; Richardson, Marcy E.; Van Veen, Elke M.; Weyandt, Jamie; Balmana, Judith; Spurdle, Amanda B.; Diez, Orland; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gutierrez-Enriquez, Sara
Comparative performance of a targeted next-generation sequencing assay against multiplexed digital PCR assays in detecting ERBB2, ESR1, and PIK3CA mutations in plasma circulating cell-free DNA from liquid biopsies

靶向下一代测序检测液体活检血浆游离DNA中ERBB2、ESR1和PIK3CA突变的性能与多重数字PCR检测方法的比较

The Journal of Molecular Diagnostics
IF0
2025-10-080
PRE
Julien Corné; Florence Godey; Angelina Legros; Laurent Castéra; Sophie Krieger; Mathilde Cherel; Agathe Cochet; Fanny Le Du; Héloïse Bourien; Antoine Deleuze; Laurence Crouzet; Christophe Perrin; Claudia Lefeuvre-Plesse; Véronique Diéras; Thibault De la Motte Rouge
Bridging the Diagnostic Gap in Hereditary Cancers with Simple, Cost-Effective, High-Throughput RNA Splicing Analysis

通过简单、经济高效、高通量的RNA剪接分析弥合遗传性癌症的诊断差距

molecular diagnostics
IF0
2025-07-230
PRE
Julie Amiot; Corentin Levacher; Louise May Thibaut; Gwendoline Lienard; Stéphanie Vasseur; Olivier Quenez; Sophie Coutant; Steeve Fourneaux; Françoise Charbonnier; Hugo Thorn; Angélina Legros; Camille Aucouturier; Laurent Castéra; Raphaël Leman; Edwige Kasper; Stéphanie Baert-Desurmont; Sophie Krieger; Philippe Ruminy; Claude Houdayer
Fine mapping of RNA isoform diversity using an innovative targeted long-read RNA sequencing protocol with novel dedicated bioinformatics pipeline
BMC GENOMICS
IF3.7
2024-09-300
OAAI
Aucouturier, Camille; Soirat, Nicolas; Castera, Laurent; Bertrand, Denis; Atkinson, Alexandre; Lavole, Thibaut; Goardon, Nicolas; Quesnelle, Celine; Levilly, Julien; Barbachou, Sosthene; Legros, Angelina; Caron, Olivier; Crivelli, Louise; Denizeau, Philippe; Berthet, Pascaline; Ricou, Agathe; Boulouard, Flavie; Vaur, Dominique; Krieger, Sophie; Leman, Raphael
Predicting the impact of rare variants on RNA splicing in CAGI6
HUMAN GENETICS
IF3.6
2024-01-033
OAAI
Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A.; Douglas, Andrew G. L.; Bunyan, David J.; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D.; Mount, Stephen M.; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana
Validation of the Clinical Use of GIScar, an Academic-developed Genomic Instability Score Predicting Sensitivity to Maintenance Olaparib for Ovarian Cancer
CLINICAL CANCER RESEARCH
IF10.2
2023-09-268
OAAI
Leman, Raphael; Muller, Etienne; Legros, Angelina; Goardon, Nicolas; Chentli, Imene; Atkinson, Alexandre; Tranchant, Aurore; Castera, Laurent; Krieger, Sophie; Ricou, Agathe; Boulouard, Flavie; Joly, Florence; Boucly, Romain; Dumont, Aurelie; Basset, Noemie; Coulet, Florence; Chevalier, Louise-Marie; Rouleau, Etienne; Leitner, Katharina; Gonzalez-Martin, Antonio; Gargiulo, Piera; Luck, Hans-Joachim; Genestie, Catherine; Ray-Coquard, Isabelle; Pujade-Lauraine, Eric; Vaur, Dominique
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
HUMAN MUTATION
IF3.7
2022-11-2038
PRE
Leman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-10-0121
OAAI
Caputo, Sandrine M.; Golmard, Lisa; Leone, Melanie; Damiola, Francesca; Guillaud-Bataille, Marine; Revillion, Francoise; Rouleau, Etienne; Derive, Nicolas; Buisson, Adrien; Basset, Noemie; Schwartz, Mathias; Vilquin, Paul; Garrec, Celine; Privat, Maud; Gay-Bellile, Mathilde; Abadie, Caroline; Abidallah, Khadija; Airaud, Fabrice; Allary, Anne-Sophie; Barouk-Simonet, Emmanuelle; Belotti, Muriel; Benigni, Charlotte; Benusiglio, Patrick R.; Berthemin, Christelle; Berthet, Pascaline; Bertrand, Ophelie; Bezieau, Stephane; Bidart, Marie; Bignon, Yves-Jean; Birot, Anne-Marie; Blanluet, Maud; Bloucard, Amelie; Bombled, Johny; Bonadona, Valerie; Bonnet, Francoise; Bonnet-Dupeyron, Marie-Noelle; Boulaire, Manon; Boulouard, Flavie; Bouras, Ahmed; Bourdon, Violaine; Brahimi, Afane; Brayotel, Fanny; de Paillerets, Brigitte Bressac; Bronnec, Noemie; Bubien, Virginie; Buecher, Bruno; Cabaret, Odile; Carriere, Jennifer; Chiesa, Jean; Chieze-Valero, Stephanie; Cohen, Camille; Cohen-Haguenauer, Odile; Colas, Chrystelle; Collonge-Rame, Marie-Agnes; Conoy, Anne-Laure; Coulet, Florence; Coupier, Isabelle; Crivelli, Louise; Cusin, Veronica; De Pauw, Antoine; Dehainault, Catherine; Delhomelle, Helene; Delnatte, Capucine; Demontety, Sophie; Denizeau, Philippe; Devulder, Pierre; Dreyfus, Helene; D'Enghein, Catherine Dubois; Dupre, Anais; Durlach, Anne; Dussart, Sophie; Fajac, Anne; Fekairi, Samira; Fert-Ferrer, Sandra; Fievet, Alice; Fouillet, Robin; Mouret-Fourme, Emmanuelle; Gauthier-Villars, Marion; Gesta, Paul; Giraud, Sophie; Gladieff, Laurence; Goldbarg, Veronica; Goussot, Vincent; Guibert, Virginie; Guillerm, Erell; Guy, Christophe; Hardouin, Agnes; Heude, Celine; Houdayer, Claude; Ingster, Olivier; Jacquot-Sawka, Caroline; Jones, Natalie; Krieger, Sophie; Lacoste, Sofiane; Lallaoui, Hakima; Larbre, Helene; Lauge, Anthony; Le Guyadec, Gabrielle; Le Mentec, Marine; Lecerf, Caroline; Le Gall, Jessica; Legendre, Berengere; Legrand, Clementine; Legros, Angelina; Lejeune, Sophie; Lidereau, Rosette; Lignon, Norbert; Limacher, Jean-Marc; Livon, Doriane; Lizard, Sarab; Longy, Michel; Lortholary, Alain; Macquere, Pierre; Mailliez, Audrey; Malsa, Sarah; Margot, Henri; Mari, Veronique; Maugard, Christine; Meira, Cindy; Menjard, Julie; Moliere, Diane; Moncoutier, Virginie; Moretta-Serra, Jessica; Muller, Etienne; Neviere, Zoe; Tuan, Thien-vu Nguyen Minh; Noguchi, Tetsuro; Nogues, Catherine; Oca, Florine; Popovici, Cornel; Prieur, Fabienne; Raad, Sabine; Rey, Jean-Marc; Ricou, Agathe; Salle, Lucie; Saule, Claire; Sevenet, Nicolas; Simaga, Fatoumata; Sobol, Hagay; Suybeng, Voreak; Tennevet, Isabelle; Tenreiro, Henrique; Tinat, Julie; Toulas, Christine; Turbiez, Isabelle; Uhrhammer, Nancy; Vande Perre, Pierre; Vaur, Dominique; Venat, Laurence; Viellard, Nicolas; Villy, Marie-Charlotte; Warcoin, Mathilde; Yvard, Alice; Zattara, Helene; Caron, Olivier; Lasset, Christine; Remenieras, Audrey; Boutry-Kryza, Nadia; Castera, Laurent; Stoppa-Lyonnet, Dominique
Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System
CANCER RESEARCH
IF16.6
2020-09-0219
OAAI
Tubeuf, Helene; Caputo, Sandrine M.; Sullivan, Teresa; Rondeaux, Julie; Krieger, Sophie; Caux-Moncoutier, Virginie; Hauchard, Julie; Castelain, Gaia; Fievet, Alice; Meulemans, Laetitia; Revillion, Francoise; Leone, Melanie; Boutry-Kryza, Nadia; Delnatte, Capucine; Guillaud-Bataille, Marine; Cleveland, Linda; Reid, Susan; Southon, Eileen; Soukarieh, Omar; Drouet, Aurelie; Di Giacomo, Daniela; Vezain, Myriam; Bonnet-Dorion, Francoise; Bourdon, Violaine; Larbre, Helene; Muller, Daniele; Pujol, Pascal; Vaz, Fatima; Audebert-Bellanger, Severine; Colas, Chrystelle; Venat-Bouvet, Laurence; Solano, Angela R.; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Gaildrat, Pascaline; Sharan, Shyam K.; Martins, Alexandra
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12
CANCER RESEARCH
IF16.6
2020-04-0218
OAAI
Meulemans, Laetitia; Mesman, Romy L. S.; Caputo, Sandrine M.; Krieger, Sophie; Guillaud-Bataille, Marine; Caux-Moncoutier, Virginie; Leone, Melanie; Boutry-Kryza, Nadia; Sokolowska, Johanna; Revillion, Francoise; Delnatte, Capucine; Tubeuf, Helene; Soukarieh, Omar; Bonnet-Dorion, Francoise; Guibert, Virginie; Bronner, Myriam; Bourdon, Violaine; Lizard, Sarab; Vilquin, Paul; Privat, Maud; Drouet, Aurelie; Grout, Charlotte; Calleja, Fabienne M. G. R.; Golmard, Lisa; Vrieling, Harry; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Vreeswijk, Maaike P. G.; Martins, Alexandra; Gaildrat, Pascaline
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants
BMC GENOMICS
IF3.7
2020-01-2836
OAAI
Leman, Raphael; Tubeuf, Helene; Raad, Sabine; Tournier, Isabelle; Derambure, Celine; Lanos, Raphael; Gaildrat, Pascaline; Castelain, Gaia; Hauchard, Julie; Killian, Audrey; Baert-Desurmont, Stephanie; Legros, Angelina; Goardon, Nicolas; Quesnelle, Celine; Ricou, Agathe; Castera, Laurent; Vaur, Dominique; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Boutry-Kryza, Nadia; Schultz, Ines; Caux-Moncoutier, Virginie; Rossing, Maria; Walker, Logan C.; Spurdle, Amanda B.; Houdayer, Claude; Martins, Alexandra; Krieger, Sophie
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort (vol 46, pg 7913, 2018)
NUCLEIC ACIDS RESEARCH
IF13.1
2019-12-216
OAAI
Leman, Raphael; Gaildrat, Pascaline; Le Gac, Gerald; Ka, Chandran; Fichou, Yann; Audrezet, Marie-Pierre; Caux-Moncoutier, Virginie; Caputo, Sandrine M.; Boutry-Kryza, Nadia; Leone, Melanie; Mazoyer, Sylvie; Bonnet-Dorion, Francoise; Sevenet, Nicolas; Guillaud-Bataille, Marine; Rouleau, Etienne; Bressac-de Paillerets, Brigitte; Wappenschmidt, Barbara; Rossing, Maria; Muller, Danielle; Bourdon, Violaine; Revillon, Francoise; Parsons, Michael T.; Rousselin, Antoine; Davy, Gregoire; Castelain, Gaia; Castera, Laurent; Sokolowska, Joanna; Coulet, Florence; Delnatte, Capucine; Ferec, Claude; Spurdle, Amanda B.; Martins, Alexandra; Krieger, Sophie; Houdayer, Claude
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

BRCA1和BRCA2变异的大规模多因素可能性定量分析: 支持临床变异分类的ENIGMA资源

HUMAN MUTATION
IF3.7
2019-09-01102
OAAI
Parsons, Michael T.; Tudini, Emma; Li, Hongyan; Hahnen, Eric; Wappenschmidt, Barbara; Feliubadalo, Lidia; Aalfs, Cora M.; Agata, Simona; Aittomaki, Kristiina; Alducci, Elisa; Concepcion Alonso-Cerezo, Maria; Arnold, Norbert; Auber, Bernd; Austin, Rachel; Azzollini, Jacopo; Balmana, Judith; Barbieri, Elena; Bartram, Claus R.; Blanco, Ana; Bluemcke, Britta; Bonache, Sandra; Bonanni, Bernardo; Borg, Ake; Bortesi, Beatrice; Brunet, Joan; Bruzzone, Carla; Bucksch, Karolin; Cagnoli, Giulia; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Calvello, Mariarosaria; Capone, Gabriele L.; Caputo, Sandrine M.; Carnevali, Ileana; Carrasco, Estela; Caux-Moncoutier, Virginie; Cavalli, Pietro; Cini, Giulia; Clarke, Edward M.; Concolino, Paola; Cops, Elisa J.; Cortesi, Laura; Couch, Fergus J.; Darder, Esther; de la Hoya, Miguel; Dean, Michael; Debatin, Irmgard; Del Valle, Jesus; Delnatte, Capucine; Derive, Nicolas; Diez, Orland; Ditsch, Nina; Domchek, Susan M.; Dutrannoy, Veronique; Eccles, Diana M.; Ehrencrona, Hans; Enders, Ute; Evans, D. Gareth; Farra, Chantal; Faust, Ulrike; Felbor, Ute; Feroce, Irene; Fine, Miriam; Foulkes, William D.; Galvao, Henrique Cr; Gambino, Gaetana; Gehrig, Andrea; Gensini, Francesca; Gerdes, Anne-Marie; Germani, Aldo; Giesecke, Jutta; Gismondi, Viviana; Gomez, Carolina; Garcia, Encarna B. Gomez; Gonzalez, Sara; Grau, Elia; Grill, Sabine; Gross, Eva; Guerrieri-Gonzaga, Aliana; Guillaud-Bataille, Marine; Gutierrez-Enriquez, Sara; Haaf, Thomas; Hackmann, Karl; Hansen, Thomas Vo; Harris, Marion; Hauke, Jan; Heinrich, Tilman; Hellebrand, Heide; Herold, Karen N.; Honisch, Ellen; Horvath, Judit; Houdayer, Claude; Huebbel, Verena; Iglesias, Silvia; Izquierdo, Angel; James, Paul A.; Janssen, Linda Am; Jeschke, Udo; Kaulfuss, Silke; Keupp, Katharina; Kiechle, Marion; Koelbl, Alexandra; Krieger, Sophie; Kruse, Torben A.; Kvist, Anders; Lalloo, Fiona; Larsen, Mirjam; Lattimore, Vanessa L.; Lautrup, Charlotte; Ledig, Susanne; Leinert, Elena; Lewis, Alexandra L.; Lim, Joanna; Loeffler, Markus; Lopez-Fernandez, Adria; Lucci-Cordisco, Emanuela; Maass, Nicolai; Manoukian, Siranoush; Marabelli, Monica; Matricardi, Laura; Meindl, Alfons; Michelli, Rodrigo D.; Moghadasi, Setareh; Moles-Fernandez, Alejandro; Montagna, Marco; Montalban, Gemma; Monteiro, Alvaro N.; Montes, Eva; Mori, Luigi; Moserle, Lidia; Mueller, Clemens R.; Mundhenke, Christoph; Naldi, Nadia; Nathanson, Katherine L.; Navarro, Matilde; Nevanlinna, Heli; Nichols, Cassandra B.; Niederacher, Dieter; Nielsen, Henriette R.; Ong, Kai-ren; Pachter, Nicholas; Palmero, Edenir, I; Papi, Laura; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Pfeifer, Katharina; Pineda, Marta; Pohl-Rescigno, Esther; Poplawski, Nicola K.; Porfirio, Berardino; Quante, Anne S.; Ramser, Juliane; Reis, Rui M.; Revillion, Francoise; Rhiem, Kerstin; Riboli, Barbara; Ritter, Julia; Rivera, Daniela; Rofes, Paula; Rump, Andreas; Salinas, Monica; Sanchez de Abajo, Ana Maria; Schmidt, Gunnar; Schoenwiese, Ulrike; Seggewiss, Jochen; Solanes, Ares; Steinemann, Doris; Stiller, Mathias; Stoppa-Lyonnet, Dominique; Sullivan, Kelly J.; Susman, Rachel; Sutter, Christian; Tavtigian, Sean, V; Teo, Soo H.; Teule, Alex; Thomassen, Mads; Tibiletti, Maria Grazia; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda E.; Tornero, Eva; Torngren, Therese; Torres-Esquius, Sara; Toss, Angela; Trainer, Alison H.; Tucker, Katherine M.; van Asperen, Christi J.; van Mackelenbergh, Marion T.; Varesco, Liliana; Vargas-Parra, Gardenia; Varon, Raymonda; Vega, Ana; Velasco, Angela; Vesper, Anne-Sophie; Viel, Alessandra; Vreeswijk, Maaike P. G.; Wagner, Sebastian A.; Waha, Anke; Walker, Logan C.; Walters, Rhiannon J.; Wang-Gohrke, Shan; Weber, Bernhard H. F.; Weichert, Wilko; Wieland, Kerstin; Wiesmueller, Lisa; Witzel, Isabell; Woeckel, Achim; Woodward, Emma R.; Zachariae, Silke; Zampiga, Valentina; Zeder-Goss, Christine; Lazaro, Conxi; De Nicolo, Arcangela; Radice, Paolo; Engel, Christoph; Schmutzler, Rita K.; Goldgar, David E.; Spurdle, Amanda B.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

PALB2基因变异的选择性剪接和ACMG-AMP-2015-based分类: 一个谜报告

JOURNAL OF MEDICAL GENETICS
IF3.7
2019-03-1923
OAAI
Lopez-Perolio, Irene; Leman, Raphael; Behar, Raquel; Lattimore, Vanessa; Pearson, John F.; Castera, Laurent; Martins, Alexandra; Vaur, Dominique; Goardon, Nicolas; Davy, Gregoire; Garre, Pilar; Garcia-Barberan, Vanesa; Llovet, Patricia; Perez-Segura, Pedro; Diaz-Rubio, Eduardo; Caldes, Trinidad; Hruska, Kathleen S.; Hsuan, Vickie; Wu, Sitao; Pesaran, Tina; Karam, Rachid; Vallon-Christersson, Johan; Borg, Ake; Valenzuela-Palomo, Alberto; Velasco, Eladio A.; Southey, Melissa; Vreeswijk, Maaike P. G.; Devilee, Peter; Kvist, Anders; Spurdle, Amanda B.; Walker, Logan C.; Krieger, Sophie; de la Hoya, Miguel
Landscape of pathogenic variations in a panel of 34 genes and cancer risk estimation from 5131 HBOC families
GENETICS IN MEDICINE
IF6.2
2018-12-0158
OAAI
Castera, Laurent; Harter, Valentin; Muller, Etienne; Krieger, Sophie; Goardon, Nicolas; Ricou, Agathe; Rousselin, Antoine; Paimparay, Germain; Legros, Angelina; Bruet, Olivia; Quesnelle, Celine; Domin, Florian; San, Chankannira; Brault, Baptiste; Fouillet, Robin; Abadie, Caroline; Bera, Odile; Berthet, Pascaline; Frebourg, Thierry; Vaur, Dominique

研究方向

暂未获取到该数据
L
Laurent Castéra
H 指数:31论文数:141被引数:3,715
A
Alexandra Martins
H 指数:32论文数:230被引数:3,897
D
Dominique Vaur
H 指数:26论文数:118被引数:2,272
C
Claude Houdayer
H 指数:31论文数:156被引数:5,172
T
Thierry Frébourg
H 指数:90论文数:502被引数:3.4万
P
Pascaline Gaildrat
H 指数:28论文数:70被引数:2,231
S
Sandrine M. Caputo
H 指数:29论文数:136被引数:2,661
R
Raphaël Leman
H 指数:11论文数:78被引数:532
A
Angélina Legros
H 指数:9论文数:57被引数:594
A
Antoine Rousselin
H 指数:12论文数:28被引数:891