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I

Irene Madrigal

department of biochemistry and molecular genetics
H指数:26
被引数:2,402

个人简介

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教育背景

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工作经历

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荣誉奖项

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Comparison of Whole Exome Sequencing Commercial Kits Performance Across Diverse Tissue Sources
International Journal of Molecular Sciences
IF4.9
2026-07-280
OA
Edgard Verdura; Aina Montalbán-Casafont; Xavier Solé; Esther Titos; Eva González-Roca; Cristina Sánchez-Cárdenas; Vanessa López; Núria Palau; Paula Sánchez; Alfredo Mendoza-Cantero; Laura Rodriguez-Elena; Dolores Jiménez; Abraham José Paredes-Fuentes; Laura Gort; Laia Rodríguez-Revenga; Irene Madrigal; Yolanda López-Púa; Judit García-Villoria; Celia Badenas; José Luis Villanueva-Cañas; Joan Anton Puig-Butillé
Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated families

四例无血缘关系家庭中，重复出现的t(9;12)易位破坏ACVRL1基因内含子9，导致标准外显子测序未能检测出的遗传性出血性毛细血管扩张症

European Journal of Internal Medicine
IF6.1
2026-06-070
OAAI
Anna Esteve-Garcia; Irene Madrigal; Cinthia Aguilera; Cristina Sau; Virginia Aquino; Joan Albert Barberà; Aurora Sánchez; Beatriz Morte; Laia Rodríguez-Revenga; María Isabel Alvarez-Mora; Jesus Ribas; Raquel Torres-Iglesias; Alejandro Portillo Medina; Antoni Riera-Mestre; Ariadna Padró-Miquel
Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis

人诱导多能干细胞衍生的肌管模型包涵体肌炎

ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2025-02-210
OAAI
Canto-Santos, Judith; Valls-Roca, Laura; Tobias, Ester; Garcia-Garcia, Francesc Josep; Guitart-Mampel, Mariona; Andujar-Sanchez, Felix; Vilaseca-Capel, Adria; Esteve-Codina, Anna; Martin-Mur, Beatriz; Padrosa, Joan; Peruga, Emma; Madrigal, Irene; Segales, Paula; Garcia-Ruiz, Carmen; Fernandez-Checa, Jose Carlos; Moreno-Lozano, Pedro J.; O'Callaghan, Albert Selva; Sevilla, Ana; Milisenda, Jose Cesar; Garrabou, Gloria
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
JOURNAL OF MEDICAL GENETICS
IF3.7
2022-11-2912
OA
Martinez-Cayuelas, Elena; Blanco-Kelly, Fiona; Lopez-Grondona, Fermina; Swafiri, Saoud Tahsin; Lopez-Rodriguez, Rosario; Losada-Del Pozo, Rebeca; Mahillo-Fernandez, Ignacio; Moreno, Beatriz; Rodrigo-Moreno, Maria; Casas-Alba, Didac; Lopez-Gonzalez, Aitor; Garcia-Minaur, Sixto; Mori, Maria Angeles; Pacio-Minguez, Marta; Rikeros-Orozco, Emi; Santos-Simarro, Fernando; Cruz-Rojo, Jaime; Quesada-Espinosa, Juan Francisco; Sanchez-Calvin, Maria Teresa; Sanchez-Del Pozo, Jaime; Fonz, Raquel Bernado; Isidoro-Garcia, Maria; Ruiz-Ayucar, Irene; Alvarez-Mora, Maria Isabel; Blanco-Lago, Raquel; De Azua, Begona; Eiris, Jesus; Garcia-Penas, Juan Jose; Gil-Fournier, Belen; Gomez-Lado, Carmen; Irazabal, Nadia; Lopez-Gonzalez, Vanessa; Madrigal, Irene; Malaga, Ignacio; Martinez-Menendez, Beatriz; Ramiro-Leon, Soraya; Garcia-Hoyos, Maria; Prieto-Matos, Pablo; Lopez-Pison, Javier; Aguilera-Albesa, Sergio; Alvarez, Sara; Fernandez-Jaen, Alberto; Llano-Rivas, Isabel; Gener-Querol, Blanca; Ayuso, Carmen; Arteche-Lopez, Ana; Palomares-Bralo, Maria; Cueto-Gonzalez, Anna; Valenzuela, Irene; Martinez-Monseny, Antonio; Lorda-Sanchez, Isabel; Almoguera, Berta
A genome-wide DNA methylation signature for SETD1B-related syndrome
CLINICAL EPIGENETICS
IF4.4
2019-11-0446
OAAI
Krzyzewska, I. M.; Maas, S. M.; Henneman, P.; Lip, K. v d; Venema, A.; Baranano, K.; Chassevent, A.; Aref-Eshghi, E.; van Essen, A. J.; Fukuda, T.; Ikeda, H.; Jacquemont, M.; Kim, H-G; Labalme, A.; Lewis, S. M. E.; Lesca, G.; Madrigal, I; Mahida, S.; Matsumoto, N.; Rabionet, R.; Rajcan-Separovic, E.; Qiao, Y.; Sadikovic, B.; Saitsu, H.; Sweetser, D. A.; Alders, M.; Mannens, M. M. A. M.
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes

在含有波和FMRP的复合物的背景下对CYFIP1的调节功能的新见解

DISEASE MODELS & MECHANISMS
IF3.3
2017-01-0150
OAAI
Abekhoukh, Sabiha; Sahin, H. Bahar; Grossi, Mauro; Zongaro, Samantha; Maurin, Thomas; Madrigal, Irene; Kazue-Sugioka, Daniele; Raas-Rothschild, Annick; Doulazmi, Mohamed; Carrera, Pilar; Stachon, Andrea; Scherer, Steven; Do Nascimento, Maria Rita Drula; Trembleau, Alain; Arroyo, Ignacio; Szatmari, Peter; Smith, Isabel M.; Mila, Montserrat; Smith, Adam C.; Giangrande, Angela; Caille, Isabelle; Bardoni, Barbara

研究方向

暂未获取到该数据
M
Montserrat Milà
H 指数:43论文数:190被引数:6,137
L
Laia Rodríguez‐Revenga
H 指数:27论文数:122被引数:2,754
C
Célia Bádenas
H 指数:42论文数:215被引数:6,557
M
María Isabel Álvarez‐Mora
H 指数:15论文数:52被引数:683
A
Aurora Sánchez
H 指数:36论文数:143被引数:3,440
A
A. Borrell
H 指数:43论文数:306被引数:6,195
M
Mar Xunclà
H 指数:8论文数:15被引数:492
M
Montse Pauta
H 指数:20论文数:73被引数:1,227
F
Francisco Martı́nez
H 指数:38论文数:375被引数:5,062
I
Isabel Blanco
H 指数:35论文数:320被引数:5,467