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Amaia Lasa-Aranzasti

university hospital vall d'hebron
H指数:8
被引数:245

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荣誉奖项

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Correction: Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

更正：SYNGAP1脑病的脑电图表现发育结局

Frontiers in Cell and Developmental Biology
IF4.3
2026-05-180
OA
JR Juliana Ribeiro-Constante; AT Alba Tristán-Noguero; FF Fernando Francisco Martínez Calvo; SI Salvador Ibañez-Mico; JL José Luis Peña Segura; JM José Miguel Ramos-Fernández; MD María del Carmen Moyano Chicano; RC Rafael Camino León; VS Víctor Soto Insuga; EG Elena González Alguacil; CV Carlos Valera Dávila; AF Alberto Fernández-Jaén; LP Laura Plans; AC Ana Camacho; NV Nuria Visa-Reñé; MD María del Pilar Martin-Tamayo Blázquez; FP Fernando Paredes-Carmona; IM Itxaso Marti-Carrera; AH Aránzazu Hernández-Fabián; MT Meritxell Tomas Davi; MC Merce Casadesus Sanchez; LC Laura Cuesta Herraiz; PF Patricia Fuentes Pita; TB Teresa Bermejo Gonzalez; MO Mar O’Callaghan; FF Federico Felipe Iglesias Santa Polonia; MR María Rosario Cazorla; MT María Teresa Ferrando Lucas; AG Antonio González-Meneses; JS Júlia Sala-Coromina; AM Alfons Macaya; AL Amaia Lasa-Aranzasti; AM Anna Ma Cueto-González; FV Francisca Valera Párraga; JC Jaume Campistol Plana; MS Mercedes Serrano; XA Xenia Alonso; DD Diego Del Castillo-Berges; MS Marc Schwartz-Palleja; SI Sofía Illescas; AR Alia Ramírez Camacho; OS Oscar Sans Capdevila; AG Angeles García-Cazorla; ÀB Àlex Bayés; IA Itziar Alonso-Colmenero
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome

发现一种DNA甲基化表观签名作为胎儿酒精综合征的分子生物标志物

Genetics in Medicine
IF6.2
2025-09-180
OAAI
Liselot van der Laan; Raissa Relator; Irene Valenzuela; Adri N. Mul; Mariëlle Alders; Michael A. Levy; Jennifer Kerkhof; Jessica Rzasa; Anna M. Cueto-González; Amaia Lasa-Aranzasti; Cristina Cea-Arestin; Marcel M.A.M. Mannens; Mieke M. van Haelst; Eduardo F. Tizzano; Bekim Sadikovic; Peter Henneman
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

DNA甲基化表观签名用于Smith-Magenis和Potocki-Lupski综合征：镜像视角

EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2025-09-010
PRE
van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.
Infarct-like myocarditis in adolescents: Exploring genetic insights from diagnosis through follow-up

青少年梗死样心肌炎：探索从诊断到随访的遗传学见解

INTERNATIONAL JOURNAL OF CARDIOLOGY
IF3.2
2025-05-040
OAAI
Esmel-Vilomara, Roger; Riaza, Lucia; Dolader, Paola; Rodriguez-Santiago, Benjamin; Lasa-Aranzasti, Amaia; Munoz-Cabello, Patricia; Fernandez-Alvarez, Paula; Figueras-Coll, Marc; Bianco, Lisa; Bueno-Gomez, Andrea; Vargas-Pons, Laura; Camprubi-Tubella, Elisabet; Marimon-Blanch, Cristina; Sabate-Rotes, Anna; Roses-Noguer, Ferran; Gran, Ferran
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
HUMAN GENETICS
IF3.6
2023-12-209
PRE
Schmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)
GENETICS IN MEDICINE
IF6.2
2023-11-011
OA
de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2022-11-292
PRE
Codina-Sola, Marta; Trujillano, Laura; Abuli, Anna; Rovira-Moreno, Eulalia; Munoz-Cabello, Patricia; Campos, Berta; Fernandez-alvarez, Paula; Palau, Dolors; Carrasco, Estela; Valenzuela, Irene; Cueto-Gonzalez, Anna Maria.; Lasa-Aranzasti, Amaia; Limeres, Javier; Leno-Colorado, Jordi; Costa-Roger, Mar; Moles-Fernandez, Alejandro; Balmana, Judith; Diez, Orland; Cusco, Ivon; Garcia-Arumi, Elena; Tizzano, Eduardo Fidel
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

ANKRD11的错义变异通过编码蛋白的稳定性或转录活性受损而导致KBG综合征

GENETICS IN MEDICINE
IF6.2
2022-10-0116
OA
de Boer, Elke; Ockeloen, Charlotte W.; Kampen, Rosalie A.; Hampstead, Juliet E.; Dingemans, Alexander J. M.; Rots, Dmitrijs; Lutje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; Angle, Brad; Chatron, Nicolas; Denomme-Pichon, Anne-Sophie; Devinsky, Orrin; Dubourg, Christele; Elmslie, Frances; Elloumi, Houda Zghal; Faivre, Laurence; Fitzgerald-Butt, Sarah; Genevieve, David; Goos, Jacqueline A. C.; Helm, Benjamin M.; Kini, Usha; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lynch, Sally A.; Mathijssen, Irene M. J.; McGowan, Ruth; Monaghan, Kristin G.; Odent, Sylvie; Pfundt, Rolph; Putoux, Audrey; van Reeuwijk, Jeroen; Santen, Gijs W. E.; Sasaki, Erina; Sorlin, Arthur; van der Spek, Peter J.; Stegmann, Alexander P. A.; Swagemakers, Sigrid M. A.; Valenzuela, Irene; Viora-Dupont, Eleonore; Vitobello, Antonio; Ware, Stephanie M.; Weber, Mathys; Gilissen, Christian; Low, Karen J.; Fisher, Simon E.; Vissers, Lisenka E. L. M.; Wong, Maggie M. K.; Kleefstra, Tjitske
Natural history of KBG syndrome in a large European cohort

大型欧洲队列中KBG综合征的自然史

HUMAN MOLECULAR GENETICS
IF3.2
2022-07-2117
OAAI
Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, Anna
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome
HAEMATOLOGICA
IF7.9
2021-06-0317
OAAI
Tovy, Ayala; Rosas, Carina; Gaikwad, Amos S.; Medrano, Geraldo; Zhang, Linda; Reyes, Jaime M.; Huang, Yung-Hsin; Arakawa, Tastuhiko; Kurtz, Kristen; Conneely, Shannon E.; Guzman, Anna G.; Aguilar, Rogelio; Gao, Anne; Chen, Chun-Wei; Kim, Jean J.; Carter, Melissa T.; Lasa-Aranzasti, Amaia; Valenzuela, Irene; Van Maldergem, Lionel; Brunetti, Lorenzo; Hicks, M. John; Marcogliese, Andrea N.; Goodell, Margaret A.; Rau, Rachel E.

研究方向

暂未获取到该数据
I
Irene Valenzuela
H 指数:24论文数:123被引数:1,710
E
Eduardo F. Tizzano
H 指数:41论文数:259被引数:9,413
A
Anna M. Cueto‐González
H 指数:14论文数:51被引数:707
L
Laura Trujillano
H 指数:7论文数:29被引数:210
M
Marta Codina‐Solà
H 指数:13论文数:47被引数:726
P
Paula Fernández‐Álvarez
H 指数:10论文数:48被引数:433
E
Elena García‐Arumí
H 指数:29论文数:131被引数:2,752
S
Sylvie Odent
H 指数:69论文数:426被引数:1.4万
L
Laurence Faivre
H 指数:85论文数:716被引数:3.3万
G
Gaëtan Lesca
H 指数:67论文数:447被引数:1.4万