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D

Daniel Rueda

Erasmus MC
H指数:25
被引数:3,168

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A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

经过验证的高度敏感的微卫星不稳定性分析可准确识别在体质错配修复缺陷中携带双等位基因种系PMS2致病性变异的个体

CLINICAL CHEMISTRY
IF6.3
2024-03-261
OA
Marin, Fatima; Canet-Hermida, Julia; Bianchi, Vanessa; Chung, Jiil; Wimmer, Katharina; Foulkes, William; Perez-Alonso, Vanesa; Dominguez-Pinilla, Nerea; Sabado, Constantino; Vazquez-Gomez, Felisa; Molines, Antonio; Fioravantti, Victoria; Carrasco, Estela; Stengs, Lucie; Edwards, Melissa; Negm, Logine; Das, Anirban; Aronson, Melyssa; Pastor, Angela; Rueda, Daniel; Gonzalez-Granado, Luis Ignacio; Tabori, Uri; Capella, Gabriel; Pineda, Marta
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
JOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
2024-01-013
OAAI
Porras, Luz-Marina; Padilla, Natalia; Moles-Fernandez, Alejandro; Feliubadalo, Lidia; Santamarina-Pena, Marta; Sanchez, Alysson T.; Lopez-Novo, Anael; Blanco, Ana; de la Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; Ruiz-Ponte, Clara; Vega, Ana; Lazaro, Conxi; Diez, Orland; Gutierrez-Enriquez, Sara; de la Cruz, Xavier
Lurbinectedin in patients with pretreated endometrial cancer: results from a phase 2 basket clinical trial and exploratory translational study

Lurbinectedin在子宫内膜癌患者中的应用: 来自2期篮子临床试验和探索性转化研究的结果

INVESTIGATIONAL NEW DRUGS
IF2.7
2023-08-096
OAAI
Kristeleit, Rebecca; Leary, Alexandra; Delord, Jean Pierre; Moreno, Victor; Oaknin, Ana; Castellano, Daniel; Shappiro, Geoffrey I.; Fernandez, Cristian; Kahatt, Carmen; Alfaro, Vicente; Siguero, Mariano; Rueda, Daniel; Zeaiter, Ali; Awada, Ahmad; Santaballa, Ana; Zaman, Khalil; Sehouli, Jalid; Subbiah, Vivek
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency
GASTROENTEROLOGY
IF25.1
2023-04-0118
OA
Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro
Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility

MAD1L1中的双等位基因种系突变诱导具有高肿瘤敏感性的非整倍体综合征

SCIENCE ADVANCES
IF12.5
2022-11-047
OAAI
Villarroya-Beltri, Carolina; Osorio, Ana; Torres-Ruiz, Raul; Gomez-Sanchez, David; Trakala, Marianna; Sanchez-Belmonte, Agustin; Mercadillo, Fatima; Hurtado, Begona; Pitarch, Borja; Hernandez-Nunez, Almudena; Gomez-Caturla, Antonio; Rueda, Daniel; Perea, Jose; Rodriguez-Perales, Sandra; Malumbres, Marcos; Urioste, Miguel
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
NATURE CANCER
IF28.5
2021-04-2687
OAAI
Zou, Xueqing; Koh, Gene Ching Chiek; Nanda, Arjun Scott; Degasperi, Andrea; Urgo, Katie; Roumeliotis, Theodoros I.; Agu, Chukwuma A.; Badja, Cherif; Momen, Sophie; Young, Jamie; Amarante, Tauanne Dias; Side, Lucy; Brice, Glen; Perez-Alonso, Vanesa; Rueda, Daniel; Gomez, Celine; Bushell, Wendy; Harris, Rebecca; Choudhary, Jyoti S.; Ambrose, John C.; Arumugam, Prabhu; Baple, Emma L.; Bleda, Marta; Boardman-Pretty, Freya; Boissiere, Jeanne M.; Boustred, Christopher R.; Brittain, Helen; Caulfield, Mark J.; Chan, Georgia C.; Craig, Clare E. H.; Daugherty, Louise C.; de Burca, Anna; Devereau, Andrew; Elgar, Greg; Foulger, Rebecca E.; Fowler, Tom; Furio-Tari, Pedro; Giess, Adam; Hackett, Joanne M.; Halai, Dina; Hamblin, Angela; Henderson, Shirley; Holman, James E.; Hubbard, Tim J. P.; Ibanez, Kristina; Jackson, Rob; Jones, Louise J.; Kasperaviciute, Dalia; Kayikci, Melis; Kousathanas, Athanasios; Lahnstein, Lea; Lawson, Kay; Leigh, Sarah E. A.; Leong, Ivonne U. S.; Lopez, Javier F.; Maleady-Crowe, Fiona; Mason, Joanne; McDonagh, Ellen M.; Moutsianas, Loukas; Mueller, Michael; Murugaesu, Nirupa; Need, Anna C.; O'Donovan, Pter; Odhams, Chris A.; Orioli, Andrea; Patch, Christine; Pereira, Mariana Buongermino; Perez-Gil, Daniel; Polychronopoulos, Dimitris; Pullinger, John; Rahim, Tahrima; Rendon, Augusto; Riesgo-Ferreiro, Pablo; Rogers, Tim; Ryten, Mina; Savage, Kevin; Sawant, Kushmita; Scott, Richard H.; Siddiq, Afshan; Sieghart, Alexander; Smedley, Damian; Smith, Katherine R.; Smith, Samuel C.; Sosinsky, Alona; Spooner, William; Stevens, Helen E.; Stuckey, Alexander; Sultana, Razvan; Tanguy, Melanie; Thomas, Ellen R. A.; Thompson, Simon R.; Tregidgo, Carolyn; Tucci, Arianna; Walsh, Emma; Watters, Sarah A.; Welland, Matthew J.; Williams, Eleanor; Witkowska, Katarzyna; Wood, Suzanne M.; Zarowiecki, Magdalena; Jiricny, Josef; Skarnes, William C.; Nik-Zainal, Serena
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
CLINICAL CHEMISTRY
IF6.3
2020-11-3016
OAAI
Feliubadalo, Lidia; Moles-Fernandez, Alejandro; Santamarina-Pena, Marta; Sanchez, Alysson T.; Lopez-Novo, Anael; Porras, Luz-Marina; Blanco, Ana; Capella, Gabriel; de la Hoya, Miguel; Molina, Ignacio J.; Osorio, Ana; Pineda, Marta; Rueda, Daniel; de la Cruz, Xavier; Diez, Orland; Ruiz-Ponte, Clara; Gutierrez-Enriquez, Sara; Vega, Ana; Lazaro, Conxi
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
GENETICS IN MEDICINE
IF6.2
2019-12-0113
OAAI
Suerink, Manon; Rodriguez-Girondo, Mar; van der Klift, Heleen M.; Colas, Chrystelle; Brugieres, Laurence; Lavoine, Noemie; Jongmans, Marjolijn; Capella Munar, Gabriel; Evans, D. Gareth; Farrell, Michael P.; Genuardi, Maurizio; Goldberg, Yael; Gomez-Garcia, Encarna; Heinimann, Karl; Hoell, Jessica, I; Aretz, Stefan; Jasperson, Kory W.; Kedar, Inbal; Modi, Mitul B.; Nikolaev, Sergey; van Os, Theo A. M.; Ripperger, Tim; Rueda, Daniel; Senter, Leigha; Sjursen, Wenche; Sunde, Lone; Therkildsen, Christina; Tibiletti, Maria G.; Trainer, Alison H.; Vos, Yvonne J.; Wagner, Anja; Winship, Ingrid; Wimmer, Katharina; Zimmermann, Stefanie Y.; Vasen, Hans F.; van Asperen, Christi J.; Houwing-Duistermaat, Jeanine J.; ten Broeke, Sanne W.; Nielsen, Maartje
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers
JOURNAL OF MEDICAL GENETICS
IF3.7
2019-09-0729
OAAI
Gonzalez-Acosta, Maribel; Marin, Fatima; Puliafito, Benjamin; Bonifaci, Nuria; Fernandez, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Garces, Elia Grau; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-Garcia, Pilar; Ayala, Rosa; Florkin, Benoit; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A.; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Juergen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, Thomas; Demirsoy, Ugur; Brunet, Joan; Lazaro, Conxi; Rueda, Daniel; Wimmer, Katharina; Capella, Gabriel; Pineda, Marta
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes
HUMAN MUTATION
IF3.7
2019-03-0641
OAAI
Gallon, Richard; Muehlegger, Barbara; Wenzel, Soeren-Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Feldman, Hagit Baris; Chong, Anne-Laure; Demirsoy, Ugur; Florkin, Benoit; Imschweiler, Thomas; Januszkiewicz-Lewandowska, Danuta; Lobitz, Stephan; Nathrath, Michaela; Pander, Hans-Juergen; Perez-Alonso, Vanesa; Perne, Claudia; Ragab, Iman; Rosenbaum, Thorsten; Rueda, Daniel; Seidel, Markus G.; Suerink, Manon; Taeubner, Julia; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro; Wimmer, Katharina
Primary constitutional MLH1 epimutations: a focal epigenetic event

主要的宪法MLH1表观突变: 局灶性表观遗传事件

BRITISH JOURNAL OF CANCER
IF6.8
2018-10-0420
OAAI
Damaso, Estela; Castillejo, Adela; del Mar Arias, Maria; Canet-Hermida, Julia; Navarro, Matilde; del Valle, Jesus; Campos, Olga; Fernandez, Anna; Marin, Fatima; Turchetti, Daniela; de Dios Garcia-Diaz, Juan; Lazaro, Conxi; Genuardi, Maurizio; Rueda, Daniel; Alonso, Angel; Luis Soto, Jose; Hitchins, Megan; Pineda, Marta; Capella, Gabriel
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency
FRONTIERS IN IMMUNOLOGY
IF5.9
2018-07-0219
OAAI
Tesch, Victoria K.; IJspeert, Hanna; Raicht, Andrea; Rueda, Daniel; Dominguez-Pinilla, Nerea; Allende, Luis M.; Colas, Chrystelle; Rosenbaum, Thorsten; Ilencikova, Denisa; Baris, Hagit N.; Nathrath, Michaela H. M.; Suerink, Manon; Januszkiewicz-Lewandowska, Danuta; Ragab, Iman; Azizi, Amedeo A.; Wenzel, Soeren S.; Zschocke, Johannes; Schwinger, Wolfgang; Kloor, Matthias; Blattmann, Claudia; Brugieres, Laurence; van der Burg, Mirjam; Wimmer, Katharina; Seidel, Markus G.
Association Between Germline Mutations in &ITBRF1&IT, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer
GASTROENTEROLOGY
IF25.1
2018-01-0128
PREAI
Bellido, Fernando; Sowada, Nadine; Mur, Pilar; Lazaro, Conxi; Pons, Tirso; Valdes-Mas, Rafael; Pineda, Marta; Aiza, Gemma; Iglesias, Silvia; Soto, Jose Luis; Urioste, Miguel; Caldes, Trinidad; Balbin, Milagros; Blay, Pilar; Rueda, Daniel; Duran, Mercedes; Valencia, Alfonso; Moreno, Victor; Brunet, Joan; Blanco, Ignacio; Navarro, Matilde; Calin, George A.; Borck, Guntram; Puente, Xose S.; Capella, Gabriel; Valle, Laura
Prospective Clinical Integration of an Amplicon-Based Next-Generation Sequencing Method to Select Advanced Non-Small-Cell Lung Cancer Patients for Genotype-Tailored Treatments

基于扩增子的下一代测序方法的前瞻性临床整合，以选择晚期非小细胞肺癌患者进行基因型定制治疗

CLINICAL LUNG CANCER
IF3.3
2018-01-018
PREAI
Zugazagoitia, Jon; Rueda, Daniel; Carrizo, Nuria; Enguita, Ana Belen; Gomez-Sanchez, David; Diaz-Serrano, Asuncion; Jimenez, Elisabeth; Merida, Antonio; Calero, Rosa; Lujan, Ricardo; De Miguel, Eduardo; Gamez, Pablo; Diaz-Hellin, Vicente; Antonio Nunez, Juan; Iglesias, Lara; Ferrer, Irene; Paz-Ares, Luis; Ponce-Aix, Santiago

研究方向

暂未获取到该数据
M
Miguel Urioste
H 指数:40论文数:217被引数:8,993
J
José Perea
H 指数:26论文数:180被引数:1,854
R
Rogelio González‐Sarmiento
H 指数:43论文数:421被引数:7,137
M
María Arriba
H 指数:9论文数:29被引数:249
J
Juan Luis Garcı́a
H 指数:38论文数:246被引数:5,767
Y
Yolanda Rodríguez
H 指数:16论文数:66被引数:2,158
J
Jessica Pérez
H 指数:8论文数:27被引数:196
G
Gabriel Capellá
H 指数:82论文数:694被引数:2.7万
M
Marta Pineda
H 指数:41论文数:245被引数:8,340
I
Ismael Galve‐Roperh
H 指数:52论文数:105被引数:1.0万