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Irene Valenzuela

vall d'hebron hospital universitari

24H-index
121Paper Count
1.7KCitation Count
Published Papers 61
Publication Date
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Placental insufficiency markers to assess the risk of non-chromosomal genetic conditions in early-onset fetal growth restriction
errULTRASOUND IN OBSTETRICS & GYNECOLOGY
IF6.3
err2026-03-30
err0
errOAAI
errM. Armengol-Alsina; E. Bonacina; M. Dalmau; J. Temprado; I. Valenzuela; M. Codina-Solà; M. Viñas-Jornet; C. Rodó; M. Mendoza; Collaborators
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin 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
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Author Correction: The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture
errNature Communications
IF15.7
err2026-02-02
err0
errOAAI
errNeftalí 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
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Response to Saleem et al.
errGenetics in Medicine
IF6.2
err2026-01-19
err0
PREAI
errIrene Valenzuela; Marta Codina-Solà; Eduardo F. Tizzano
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Epilepsy phenotypes of Renu syndrome: Novel insights from a European multicentre retrospective cohort study
errSeizure: European Journal of Epilepsy
IF0
err2026-01-17
err0
errOAAI
errMario Mastrangelo; Manuela Tolve; Irene Valenzuela; Giuliana Lentini; Elisa Maria Colacino Cinnante; Barbara Masotto; Stefano D’ Arrigo; Paola Francesca Ajmone; Jessica Rosenblum; Donatella Milani; Agusti Rodriguez-Palmero; Claudia Ciaccio; Anna C. Jansen; Francesco Pisani
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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
errGenetics in Medicine
IF6.2
err2025-12-06
err0
errOAAI
errIrene Valenzuela; Marta Codina-Solà; Elida Vazquez; Anna Cueto-González; Jordi Leno-Colorado; Amaia Lasa-Aranzasti; Laura Trujillano; Bárbara Masotto; Miriam Masas; Mar Escobar; Elena García-Arumí; Eduardo F. Tizzano
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Identification of an episignature for the MEF2C-associated syndrome
errEuropean Journal of Human Genetics
IF4.6
err2025-11-25
err0
PREAI
errAnanília 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
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (Vol 135, e200195, 2025)
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2025-11-03
err1
PREAI
errGehin, 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.
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series
errClinical Genetics
IF2.3
err2025-10-29
err0
errOAAI
errSebastian 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
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
errThe American Journal of Human Genetics
IF0
err2025-10-18
err0
PREAI
errDmitrijs 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
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Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome
errGenetics in Medicine
IF6.2
err2025-09-18
err0
errOAAI
errLiselot 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
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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-09-01
err0
PREAI
errvan 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.
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Attenuated Clinical Forms of Tubulinopathies in Children and Adults: A Series of 24 Individuals
errPediatric Neurology
IF2.1
err2025-06-11
err0
errOAAI
errMeghane 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
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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics
errEBIOMEDICINE
IF10.8
err2025-05-01
err0
PREAI
errMak, 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.
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Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation
errCALCIFIED TISSUE INTERNATIONAL
IF3.2
err2025-02-17
err0
PREAI
errPenafiel-Sam, Joshua; Valenzuela, Irene; Peris, Pilar
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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err0
errOAAI
errZerafati-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.
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Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err0
PREAI
errValenzuela, Irene; Codina-Sola, Marta; Vazquez, Elida; Cueto-Gonzalez, Anna; Leno-Colorado, Jordi; Lasa-Aranzasti, Amaia; Trujillano, Laura; Masotto, Barbara; Masas, Miriam; Escobar, Mar; Garcia-Arumi, Elena; Tizzano, Eduardo F.
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Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
errGENETICS IN MEDICINE
IF6.2
err2024-10-01
err0
PREAI
errHaghshenas, 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
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Management of aortic disease in children with FBN1-related Marfan syndrome
errEUROPEAN HEART JOURNAL
IF35.6
err2024-09-09
err1
errOAAI
errMuino-Mosquera, Laura; Cervi, Elena; De Groote, Katya; Dewals, Wendy; Fejzic, Zina; Kazamia, Kalliopi; Mathur, Sujeev; Milleron, Olivier; Mir, Thomas S.; Nielsen, Dorte G.; Odermarsky, Michal; Sabate-Rotes, Anna; van der Hulst, Annelies; Valenzuela, Irene; Jondeau, Guillaume
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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err8
PREAI
errRots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske
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