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Select item 23588781.

Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Ivon Cuscó, Miguel del Campo, Mireia Vilardell, Eva González, Blanca Gener, Enrique Galán, Laura Toledo, Luis A Pérez-Jurado

BMC Med Genet. 2008; 9: 27. Published online 2008 Apr 11. doi: 10.1186/1471-2350-9-27

PMCID:: PMC2358878

Article PDF–940K

Select item 110261612.

Nanoporous graphene-based thin-film microelectrodes for in vivo high-resolution neural recording and stimulation

Damià Viana, Steven T. Walston, Eduard Masvidal-Codina, Xavi Illa, Bruno Rodríguez-Meana, Jaume del Valle, Andrew Hayward, Abbie Dodd, Thomas Loret, Elisabet Prats-Alfonso, Natàlia de la Oliva, Marie Palma, Elena del Corro, María del Pilar Bernicola, Elisa Rodríguez-Lucas, Thomas Gener, Jose Manuel de la Cruz, Miguel Torres-Miranda, Fikret Taygun Duvan, Nicola Ria, Justin Sperling, Sara Martí-Sánchez, Maria Chiara Spadaro, Clément Hébert, Sinead Savage, Jordi Arbiol, Anton Guimerà-Brunet, M. Victoria Puig, Blaise Yvert, Xavier Navarro, Kostas Kostarelos, Jose A. Garrido

Nat Nanotechnol. 2024; 19(4): 514–523. Published online 2024 Jan 11. doi: 10.1038/s41565-023-01570-5

PMCID:: PMC11026161

Article PDF–2.8M

Select item 26719883.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Ivon Cuscó, Andrés Medrano, Blanca Gener, Mireia Vilardell, Fátima Gallastegui, Olaya Villa, Eva González, Benjamín Rodríguez-Santiago, Elisabet Vilella, Miguel Del Campo, Luis A. Pérez-Jurado

Hum Mol Genet. 2009 May 15; 18(10): 1795–1804. Published online 2009 Feb 26. doi: 10.1093/hmg/ddp092

PMCID:: PMC2671988

Article PDF–242K

Select item 90444894.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group

Front Genet. 2022; 13: 652454. Published online 2022 Apr 12. doi: 10.3389/fgene.2022.652454

PMCID:: PMC9044489

Article PDF–3.5M

Select item 78054025.

Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro‐osteogenic paracrine response: TERCELOI clinical trial

Arantza Infante, Blanca Gener, Miguel Vázquez, Nerea Olivares, Arantza Arrieta, Gema Grau, Isabel Llano, Luis Madero, Ana Maria Bueno, Belén Sagastizabal, Daniela Gerovska, Marcos J Araúzo‐Bravo, Itziar Astigarraga, Clara I. Rodríguez

Clin Transl Med. 2021 Jan; 11(1): e265. Published online 2021 Jan 13. doi: 10.1002/ctm2.265

PMCID:: PMC7805402

Article PDF–5.6M

Select item 88656766.

Circulating TGF-β Pathway in Osteogenesis Imperfecta Pediatric Patients Subjected to MSCs-Based Cell Therapy

Arantza Infante, Leire Cabodevilla, Blanca Gener, Clara I. Rodríguez

Front Cell Dev Biol. 2022; 10: 830928. Published online 2022 Feb 9. doi: 10.3389/fcell.2022.830928

PMCID:: PMC8865676

Article PDF–1.3M

Select item 35672697.

LRIG2 Mutations Cause Urofacial Syndrome

Helen M. Stuart, Neil A. Roberts, Berk Burgu, Sarah B. Daly, Jill E. Urquhart, Sanjeev Bhaskar, Jonathan E. Dickerson, Murat Mermerkaya, Mesrur Selcuk Silay, Malcolm A. Lewis, M. Beatriz Orive Olondriz, Blanca Gener, Christian Beetz, Rita E. Varga, Ömer Gülpınar, Evren Süer, Tarkan Soygür, Zeynep B. Özçakar, Fatoş Yalçınkaya, Aslı Kavaz, Burcu Bulum, Adnan Gücük, Wyatt W. Yue, Firat Erdogan, Andrew Berry, Neil A. Hanley, Edward A. McKenzie, Emma N. Hilton, Adrian S. Woolf, William G. Newman

Am J Hum Genet. 2013 Feb 7; 92(2): 259–264. doi: 10.1016/j.ajhg.2012.12.002

PMCID:: PMC3567269

Article PDF–938K

Select item 30320788.

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill E. Urquhart, Emma Hilton, Edward A. McKenzie, Richard A. Kammerer, Malcolm Lewis, Bronwyn Kerr, Helen Stuart, Dian Donnai, David A. Long, Berk Burgu, Ozgu Aydogdu, Murat Derbent, Sixto Garcia-Minaur, Willie Reardon, Blanca Gener, Stavit Shalev, Rupert Smith, Adrian S. Woolf, Graeme C. Black, William G. Newman

Am J Hum Genet. 2010 Jun 11; 86(6): 963–969. doi: 10.1016/j.ajhg.2010.05.006

Correction in:: Am J Hum Genet. 2010 Aug 13; 87(2): 309.

PMCID:: PMC3032078

Article PDF–810K

Select item 44279989.

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Marta Codina-Solà, Benjamín Rodríguez-Santiago, Aïda Homs, Javier Santoyo, Maria Rigau, Gemma Aznar-Laín, Miguel del Campo, Blanca Gener, Elisabeth Gabau, María Pilar Botella, Armand Gutiérrez-Arumí, Guillermo Antiñolo, Luis Alberto Pérez-Jurado, Ivon Cuscó

Mol Autism. 2015; 6: 21. Published online 2015 Apr 15. doi: 10.1186/s13229-015-0017-0

PMCID:: PMC4427998

Article PDF–1.4M

Select item 415450510.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian I Rice, Jacquelyn Bond, Aruna Asipu, Rebecca L Brunette, Iain W Manfield, Ian M Carr, Jonathan C Fuller, Richard M Jackson, Teresa Lamb, Tracy A Briggs, Manir Ali, Hannah Gornall, Lydia R Couthard, Alec Aeby, Simon P Attard-Montalto, Enrico Bertini, Christine Bodemer, Knut Brockmann, Louise A Brueton, Peter C Corry, Isabelle Desguerre, Elisa Fazzi, Angels Garcia Cazorla, Blanca Gener, Ben C J Hamel, Arvid Heiberg, Matthew Hunter, Marjo S van der Knaap, Ram Kumar, Lieven Lagae, Pierre G Landrieu, Charles M Lourenco, Daphna Marom, Michael F McDermott, William van der Merwe, Simona Orcesi, Julie S Prendiville, Magnhild Rasmussen, Stavit A Shalev, Doriette M Soler, Marwan Shinawi, Ronen Spiegel, Tiong Y Tan, Adeline Vanderver, Emma L Wakeling, Evangeline Wassmer, Elizabeth Whittaker, Pierre Lebon, Daniel B Stetson, David T Bonthron, Yanick J Crow

Nat Genet. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Nat Genet. 2009 Jul; 41(7): 829–832. Published online 2009 Jun 14. doi: 10.1038/ng.373

PMCID:: PMC4154505

Article PDF–851K

Select item 945610211.

Reversible Photocontrol of Dopaminergic Transmission in Wild-Type Animals

Carlo Matera, Pablo Calvé, Verònica Casadó-Anguera, Rosalba Sortino, Alexandre M. J. Gomila, Estefanía Moreno, Thomas Gener, Cristina Delgado-Sallent, Pau Nebot, Davide Costazza, Sara Conde-Berriozabal, Mercè Masana, Jordi Hernando, Vicent Casadó, M. Victoria Puig, Pau Gorostiza

Int J Mol Sci. 2022 Sep; 23(17): 10114. Published online 2022 Sep 4. doi: 10.3390/ijms231710114

PMCID:: PMC9456102

Article PDF–2.1M

Select item 1079357312.

Deficits in neuronal architecture but not over-inhibition are main determinants of reduced neuronal network activity in a mouse model of overexpression of Dyrk1A

Linus Manubens-Gil, Meritxell Pons-Espinal, Thomas Gener, Inmaculada Ballesteros-Yañez, María Martínez de Lagrán, Mara Dierssen

Cereb Cortex. 2024 Jan; 34(1): bhad431. Published online 2023 Nov 23. doi: 10.1093/cercor/bhad431

PMCID:: PMC10793573

Article PDF–4.2M

Select item 738415713.

Primrose syndrome: Characterization of the phenotype in 42 patients

Daniela Melis, Daniel Carvalho, Tina Barbaro‐Dieber, Alberto J. Espay, Michael J. Gambello, Blanca Gener, Erica Gerkes, Marrit M. Hitzert, Hanne B. Hove, Sandra Jansen, Petr E. Jira, Katherine Lachlan, Leonie A. Menke, Vinodh Narayanan, Damara Ortiz, Eline Overwater, Renata Posmyk, Keri Ramsey, Alessandro Rossi, Renata Lazari Sandoval, Constance Stumpel, Kyra E. Stuurman, Viviana Cordeddu, Peter Turnpenny, Pietro Strisciuglio, Marco Tartaglia, Sheela Unger, Todd Waters, Clare Turnbull, Raoul C. Hennekam

Clin Genet. 2020 Jun; 97(6): 890–901. Published online 2020 Apr 20. doi: 10.1111/cge.13749

PMCID:: PMC7384157

Article PDF–2.0M

Select item 701735114.

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

Nekane Ibarluzea, Ana Belén de la Hoz, Olatz Villate, Isabel Llano, Intzane Ocio, Itxaso Martí, Miriam Guitart, Elisabeth Gabau, Fernando Andrade, Blanca Gener, María-Isabel Tejada

Genes (Basel) 2020 Jan; 11(1): 51. Published online 2020 Jan 2. doi: 10.3390/genes11010051

PMCID:: PMC7017351

Article PDF–2.5M

Select item 480461415.

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel

Orphanet J Rare Dis. 2016; 11: 26. Published online 2016 Mar 22. doi: 10.1186/s13023-016-0408-0

PMCID:: PMC4804614

Article PDF–584K

Select item 873296116.

EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma

Calixto-Hope G. Lucas, Rohit Gupta, Jasper Wu, Kathan Shah, Ajay Ravindranathan, Jairo Barreto, Melissa Gener, Kevin F. Ginn, Owen W. J. Prall, Huiling Xu, Damien Kee, Hyun S. Ko, Nausheen Yaqoob, Nida Zia, Adriana Florez, Soonmee Cha, Arie Perry, Jennifer L. Clarke, Susan M. Chang, Mitchel S. Berger, David A. Solomon

Acta Neuropathol. 2022; 143(1): 109–113. Published online 2021 Nov 25. doi: 10.1007/s00401-021-02388-y

PMCID:: PMC8732961

Article PDF–4.0M

Select item 776450017.

Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma

Tiffany G Baker, Jay Alden, Adrian M Dubuc, Cynthia T Welsh, Iya Znoyko, Linda D Cooley, Midhat S Farooqi, Stuart Schwartz, Yvonne Y Li, Andrew D Cherniack, Scott M Lindhorst, Melissa Gener, Daynna J Wolff, David M Meredith

Neurooncol Adv. 2020 Jan-Dec; 2(1): vdaa155. Published online 2020 Nov 12. doi: 10.1093/noajnl/vdaa155

PMCID:: PMC7764500

Article PDF–693K

Select item 619936918.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton

Front Genet. 2018; 9: 479. Published online 2018 Oct 17. doi: 10.3389/fgene.2018.00479

PMCID:: PMC6199369

Article PDF–1.0M

Select item 1002895119.

Deficits in neuronal architecture but not over-inhibition are main determinants of reduced neuronal network activity in a mouse model of overexpression of Dyrk1A

Linus Manubens-Gil, Meritxell Pons-Espinal, Thomas Gener, Inmaculada Ballesteros-Yañez, María Martínez de Lagrán, Mara Dierssen

Version 2. bioRxiv. Preprint. 2023 Mar 9 [revised 2023 May 30]. doi: 10.1101/2023.03.09.531874

Published in:: Cereb Cortex. 2024 Jan; 34(1): bhad431.

PMCID:: PMC10028951

Article PDF–13M

Select item 955714120.

The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms

Kimberly Walker, Divya Kalra, Rebecca Lowdon, Guangyi Chen, David Molik, Daniela C. Soto, Fawaz Dabbaghie, Ahmad Al Khleifat, Medhat Mahmoud, Luis F Paulin, Muhammad Sohail Raza, Susanne P. Pfeifer, Daniel Paiva Agustinho, Elbay Aliyev, Pavel Avdeyev, Enrico R. Barrozo, Sairam Behera, Kimberley Billingsley, Li Chuin Chong, Deepak Choubey, Wouter De Coster, Yilei Fu, Alejandro R. Gener, Timothy Hefferon, David Morgan Henke, Wolfram Höps, Anastasia Illarionova, Michael D. Jochum, Maria Jose, Rupesh K. Kesharwani, Sree Rohit Raj Kolora, Jędrzej Kubica, Priya Lakra, Damaris Lattimer, Chia-Sin Liew, Bai-Wei Lo, Chunhsuan Lo, Anneri Lötter, Sina Majidian, Suresh Kumar Mendem, Rajarshi Mondal, Hiroko Ohmiya, Nasrin Parvin, Carolina Peralta, Chi-Lam Poon, Ramanandan Prabhakaran, Marie Saitou, Aditi Sammi, Philippe Sanio, Nicolae Sapoval, Najeeb Syed, Todd Treangen, Gaojianyong Wang, Tiancheng Xu, Jianzhi Yang, Shangzhe Zhang, Weiyu Zhou, Fritz J Sedlazeck, Ben Busby

Version 1. F1000Res. 2022; 11: 530. Published online 2022 May 16. doi: 10.12688/f1000research.110194.1