logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
I

Irene Valenzuela

vall d'hebron hospital
H指数:24
被引数:1,710

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Prenatal Presentation of RMRP-Related Skeletal Dysplasia: Clinical and Genomic Expansion

RMRP相关骨骼发育不全的产前表现：临床与基因组扩展

American Journal of Medical Genetics Part C-Seminars in Medical Genetics
IF4.4
2026-10-280
OAAI
Radhakrishnan Periyasamy; Pascal Joset; H. E. Veenstra-Knol; Nicole Corsten-Janssen; Tuula Rinne; Irene Valenzuela; Marta Codina-Solà; Carlota Rodó; Marjolaine Willems; Constance Wells; Renaud Touraine; Maayke de Koning; Gijs Santen; Iris Hollink; André Travessa; Alessandro Mauro Spinelli; Paolo Peruzzo; Moneef Shoukier; Roland Axt-Fliedner; Thomas Menter; Gwendolin Manegold-Brauer; Isabel Filges
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

扩展PGAP1缺乏症的基因型和表型谱：15例患者的临床和功能学见解

European Journal of Human Genetics
IF4.6
2026-09-170
OAAI
Florencia Haase; Oselyne T. W. Ong; Irene Valenzuela; Adam M. Bournazos; Zainab Amasseri; Frenny Sheth; Jayesh Sheth; Harsh Sheth; Rebecca Buchert; Tobias B. Haack; Joris Andrieux; Thomas Liehr; Alma Kuechler; Daniel de Los Reyes Helices; Jessica Merjane; Sandra T. Cooper; Taroh Kinoshita; Yoshiko Murakami; Richard Webster; Wendy Gold; Leszek Lisowski
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals

PACS1相关疾病的DNA甲基化特征及24例未报道个体的临床界定

European Journal of Human Genetics
IF4.6
2026-03-250
PRE
Quentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

作者更正: 人纤毛蛋白RSG1将CPLANE复合物与过渡区结构联系起来

Nature Communications
IF15.7
2026-02-020
OAAI
Neftalí Vazquez; Chanjae Lee; Irene Valenzuela; Thao P. Phan; Camille Derderian; Marcelo Chávez; Nancie A. Mooney; Janos Demeter; Mohammad Ovais Aziz-Zanjani; Ivon Cusco; Marta Codina; Núria Martínez-Gil; Diana Valverde; Carlos Solarat; Ange-Line Bruel; Cristel Thauvin-Robinet; Elisabeth Steichen; Isabel Filges; Pascal Joset; Julie De Geyter; Krishna Vaidyanathan; Tynan P. Gardner; Michinori Toriyama; Edward M. Marcotte; Kevin Drew; Elle C. Roberson; Peter K. Jackson; Jeremy F. Reiter; Eduardo F. Tizzano; John B. Wallingford
Identification of an episignature for the MEF2C-associated syndrome

MEF2C相关综合征的表观遗传特征鉴定

European Journal of Human Genetics
IF4.6
2025-11-250
PRE
Ananília Silva; Sadegheh Haghshenas; Liselot van der Laan; Michael A. Levy; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Steve A. Skinner; Laurence Faivre; James Lespinasse; Antonio Vitobello; Irene Valenzuela; Ingrid E. Scheffer; Sophie J. Russ-Hall; Kenneth A. Myers; Matthew L. Tedder; Bekim Sadikovic; Jessica A. Cooley Coleman
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2025-11-031
PRE
Gehin, Charlotte; Lone, Museer A.; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M.; Gerkes, Erica H.; Stegmann, Alexander P. A.; Lopez-Martin, Estrella; Bermejo-Sanchez, Eva; Martinez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Grafe, Daniel; Knerr, Ina; Jones, Eppie R.; Zamuner, Stefano; Abriata, Luciano A.; Kunnathully, Vidya; Moeller, Brandon E.; Vocat, Anthony; Rommelaere, Samuel; Bocquete, Jean-Philippe; Ruchti, Evelyne; Limoni, Greta; Van Campenhoudt, Marine; Bourgeat, Samuel; Henklein, Petra; Gilissen, Christian; Van Bon, Bregje W.; Pfundt, Rolph; Willemsen, Marjolein H.; Schieving, Jolanda H.; Leonardi, Emanuela; Soli, Fiorenza; Murgia, Alessandra; Guo, Hui; Zhang, Qiumeng; Xia, Kun; Fagerberg, Christina R.; Beier, Christoph P.; Larsen, Martin J.; Valenzuela, Irene; Fernandez-Alvarez, Paula; Xiong, Shiyi; Smigiel, Robert; Lopez-Gonzalez, Vanesa; Armengol, Lluis; Morleo, Manuela; Selicorni, Angelo; Torella, Annalaura; Blyth, Moira; Cooper, Nicola S.; Wilson, Valerie; Oegema, Renske; Herenger, Yvan; Garde, Aurore; Bruel, Ange-Line; Mau-Them, Frederic Tran; Maddocks, Alexis B. R.; Bain, Jennifer M.; Bhat, Musadiq A.; Costain, Gregory; Kannu, Peter; Marwaha, Ashish; Champaigne, Neena L.; Friez, Michael J.; Richardson, Ellen B.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Gupta, Yask; Lim, Tze Y.; Sanna-Cherchi, Simone; Lemaitre, Bruno; Yamaji, Toshiyuki; Hanada, Kentaro; Burke, John E.; Jaksic, Ana Marija; Mccabe, Brian D.; De Los Rios, Paolo; Hornemann, Thorsten; D'angelo, Giovanni; Gennarino, Vincenzo A.
Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

PRKAR1B相关Marbach–Schaaf神经发育综合征表型和基因型谱的扩展：一项病例系列研究

Clinical Genetics
IF2.3
2025-10-290
OAAI
Sebastian Burkart; Tarik Guzeloglu; Ana R. Soares; Irene Valenzuela; Eduardo F. Tizzano; David Gómez-Andres; Laurent Pasquier; Marine Legendre; Camille Berges; Julien Thevenon; Marjolaine Gauthier; Caleb Heid; Elly Ranum; Joseph Shen; Michelle Frees; Michael W. Schmidtke; Caro Pilar; Christian P. Schaaf
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

KDM6B相关的神经发育障碍的临床与分子谱

The American Journal of Human Genetics
IF0
2025-10-180
PRE
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
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.
Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals

微弱型微管病在儿童和成人中的临床表现：24例病例系列研究

Pediatric Neurology
IF2.1
2025-06-110
OA
Meghane Durizot; Lydie Burglen; Catherine Garel; Eléonore Blondiaux; Audrey Riquet; Valentine Floret; Vincent Desportes; Maria Häänpaa; Maria Irene Valenzuela; Anna Maria Pinto; Alessandra Renieri; Michiel Vanneste; Koen Devriendt; Liesbeth de Waele; Lucie Guilbaud; Jean-Marie Jouannic; Madeleine Harion; Thierry Billette de Villemeur; Diana Rodriguez; Emmanuelle Lacaze; Stéphanie Valence
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

人工智能驱动的基因型-表观基因型-表型方法以解决综合征诊断中的挑战

EBIOMEDICINE
IF10.8
2025-05-010
PRE
Mak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y.
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1中的序列变异导致可变的神经发育障碍

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-010
OAAI
Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D.; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D.; Ruiz, Anna; Manso-Basuz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L.; Vilain, Eric; Arnadottir, Gudny A.; Sulem, Patrick; Sulem, Telma S.; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M.; Valentine, Rozalia; Trowbridge, Sara K.; Murali, Chaya N.; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D.; Keppler-Noreuil, Kim M.; Hall, April L.; Mcgivern, Bobbi; Monaghan, Kristin G.; Sacoto, Maria J. Guillen; Baldridge, Dustin; Silverman, Gary A.; Dahiya, Sonika; Turner, Tychele N.; Schedl, Tim; Corbin, Joshua G.; Pak, Stephen C.; Zohn, Irene E.; Gurnett, Christina A.
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
GENETICS IN MEDICINE
IF6.2
2024-10-010
PRE
Haghshenas, Sadegheh; Putoux, Audrey; Reilly, Jack; Levy, Michael A.; Relator, Raissa; Ghosh, Sourav; Kerkhof, Jennifer; McConkey, Haley; Edery, Patrick; Lesca, Gaetan; Besson, Alicia; Coubes, Christine; Willems, Marjolaine; Ruiz-Pallares, Nathalie; Barat-Houari, Mouna; Tizzano, Eduardo F.; Valenzuela, Irene; Sabbagh, Quentin; Clayton-Smith, Jill; Jackson, Adam; Sullivan, James; Bromley, Rebecca; Banka, Siddharth; Genevieve, David; Sadikovic, Bekim

研究方向

暂未获取到该数据
E
Eduardo F. Tizzano
H 指数:41论文数:259被引数:9,413
A
Amaia Lasa‐Aranzasti
H 指数:8论文数:38被引数:245
M
Marta Codina‐Solà
H 指数:13论文数:47被引数:726
A
Anna M. Cueto‐González
H 指数:14论文数:51被引数:707
I
Ivon Cuscó
H 指数:31论文数:77被引数:2,939
L
Laurence Faivre
H 指数:85论文数:716被引数:3.3万
A
Alexander P.A. Stegmann
H 指数:46论文数:153被引数:7,045
P
Paula Fernández‐Álvarez
H 指数:10论文数:48被引数:433
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万
D
David Geneviève
H 指数:51论文数:622被引数:9,366