نتائج البحث - Eduardo Pérez‐Palma

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  1. 1
    Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

    Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database حسب Eduardo Pérez‐Palma, Marie Gramm, Peter Nürnberg, Patrick May, Dennis Lal

    منشور في 2019
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  2. 2
    Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

    Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis حسب Arthur Stefanski, Yamile Calle‐López, Costin Leu, Eduardo Pérez‐Palma, Elia M. Pestana-Knight, Dennis Lal

    منشور في 2020
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  3. 3
    Data-driven historical characterization of epilepsy-associated genes

    Data-driven historical characterization of epilepsy-associated genes حسب Marie Macnee, Eduardo Pérez‐Palma, Javier A. López-Rivera, Alina Ivaniuk, Patrick May, Rikke S. Møller, Dennis Lal

    منشور في 2022
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  4. 4
    Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

    Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies حسب Álvaro Beltrán‐Corbellini, Ángel Aledo‐Serrano, Rikke S. Møller, Eduardo Pérez‐Palma, Irene García‐Morales, Rafael Toledano, António Gil‐Nagel

    منشور في 2022
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  5. 5
    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association

    <i>SCN9A</i> should not be considered an epilepsy gene; Refuting a gene–disease association حسب Ismael Ghanty, Eduardo Pérez‐Palma, Camilo Villamán, Daniel Stobo, Joseph D. Symonds, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    منشور في 2025
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  6. 6
    Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies

    Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies حسب Eduardo Pérez‐Palma, Bernabé I. Bustos, Camilo Villamán, Marcelo Alarcón, Miguel E. Ávila, Giorgia D. Ugarte, Ariel E. Reyes, Carlos Opazo, G. Ferrari

    منشور في 2014
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  7. 7
    Gene variant effects across sodium channelopathies predict function and guide precision therapy

    Gene variant effects across sodium channelopathies predict function and guide precision therapy حسب Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Pérez‐Palma, Henrike Heyne, Emma Matthews, Christopher Semsarian, Joseph D. Symonds, Sameer M. Zuberi, Dennis Lal, Stéphanie Schorge

    منشور في 2022
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  8. 8
    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

    A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants حسب Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Amanda Lindy, Dianalee McKnight, Costin Leu, Sameer M. Zuberi, Andreas Brunklaus, Rikke S. Møller, Dennis Lal

    منشور في 2020
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  9. 9
    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization

    <i>SCN1A</i> variants from bench to bedside—improved clinical prediction from functional characterization حسب Andreas Brunklaus, Stéphanie Schorge, Alexander D. Smith, Ismael Ghanty, Kirsty Stewart, Sarah L. Gardiner, Juanjiangmeng Du, Eduardo Pérez‐Palma, Joseph D. Symonds, Abby C. Collier, Dennis Lal, Sameer M. Zuberi

    منشور في 2019
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  10. 10
    Identification of pathogenic variant enriched regions across genes and gene families

    Identification of pathogenic variant enriched regions across genes and gene families حسب Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal, Lisa‐Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica A. Castrillon, Anne O’Donnell‐Luria, Peter Nürnberg, Aarno Palotie, Mark J. Daly, Jessica C. Lal

    منشور في 2019
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  11. 11
    Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

    Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants حسب Sumaiya Iqbal, Eduardo Pérez‐Palma, Jakob Berg Jespersen, Patrick May, David Hoksza, Henrike Heyne, Shehab Ahmed, Zaara T. Rifat, M. Sohel Rahman, Kasper Lage, Aarno Palotie, Jeffrey R. Cottrell, Florence F. Wagner, Mark J. Daly, Arthur J. Campbell, Dennis Lal

    منشور في 2020
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  12. 12
    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

    Predicting functional effects of missense variants in voltage-gated sodium and calcium channels حسب Henrike Heyne, David Báez-Nieto, Sumaiya Iqbal, Duncan S. Palmer, Andreas Brunklaus, Patrick May, Katrine M. Johannesen, Stephan Lauxmann, Johannes R. Lemke, Rikke S. Møller, Eduardo Pérez‐Palma, Ute I. Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J. Campbell, Hao‐Ran Wang, Jen Q. Pan, Mark J. Daly

    منشور في 2020
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  13. 13
    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

    Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies حسب D.S. Gallagher, Eduardo Pérez‐Palma, Tobias Bruenger, Ismael Ghanty, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Sameer M. Zuberi, Dennis Lal, Andreas Brunklaus

    منشور في 2024
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  14. 14
    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies

    Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies حسب Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Xinge Ji, Eva H. Brilstra, Berten Ceulemans, Nicole Chémaly, Iris Lange, Christel Depienne, Renzo Guerrini, Davide Mei, Rikke S. Møller, Rima Nabbout, Brigid M. Regan, Amy L. Schneider, Ingrid E. Scheffer, An‐Sofie Schoonjans, Joseph D. Symonds, Sarah Weckhuysen, Michael W. Kattan, Sameer M. Zuberi, Dennis Lal

    منشور في 2022
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  15. 15
    Current knowledge of SLC6A1-related neurodevelopmental disorders

    Current knowledge of SLC6A1-related neurodevelopmental disorders حسب Kimberly Goodspeed, Eduardo Pérez‐Palma, Sumaiya Iqbal, Dominique D. Cooper, Annalisa Scimemi, Katrine M. Johannesen, Arthur Stefanski, Scott Demarest, Katherine L. Helbig, Jing‐Qiong Kang, Frances C. Shaffo, Brandon Prentice, Catherine A. Brownstein, Byungchan Lim, Ingo Helbig, Emily de los Reyes, Dianalee McKnight, Vincenzo Crunelli, Arthur J. Campbell, Rikke S. Møller, Amber Freed, Dennis Lal

    منشور في 2020
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  16. 16
    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region حسب McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Eduardo Pérez‐Palma, Erika Axeen, Christina Hung, Heather E. Olson, Lindsay C. Swanson, Irina Anselm, Lauren C. Briere, Frances A. High, David A. Sweetser, Saima Kayani, Molly Snyder, Sophie Calvert, Ingrid E. Scheffer, Edward Yang, Jeff L. Waugh, Dennis Lal, Olaf A. Bodamer, Annapurna Poduri

    منشور في 2019
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  17. 17
    Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

    Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry حسب Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch, Lorena Azócar, Eleodoro Riveras, Giorgia D. Ugarte, Mohammad R. Toliat, Peter Nürnberg, Wolfgang Lieb, André Franke, Sebastian Hinz, Greta Burmeister, Witigo von Schönfels, Clemens Schafmayer, Henry Völzke, Uwe Völker, Georg Homuth, Markus M. Lerch, José Luis Santos, Klaus Püschel, Claudia Bambs, Juan Carlos Roa, Rodrigo A. Gutiérrez, Jochen Hampe, G. Ferrari, Juan Francisco Miquel

    منشور في 2019
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  18. 18
    The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

    The genomic landscape across 474 surgically accessible epileptogenic human brain lesions حسب Javier A. López-Rivera, Costin Leu, Marie Macnee, Jean Khoury, Lucas Hoffmann, Roland Coras, Katja Kobow, Nisha Bhattarai, Eduardo Pérez‐Palma, Hajo M. Hamer, Sebastian Brandner, Karl Rössler, Christian G. Bien, Thilo Kalbhenn, Tom Pieper, Till Hartlieb, Elizabeth Butler, Giulio Genovese, Kerstin Becker, Janine Altmüller, Lisa-Marie Niestroj, Lisa Ferguson, Robyn M. Busch, Peter Nürnberg, Imad Najm, Ingmar Blümcke, Dennis Lal

    منشور في 2022
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  19. 19
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders حسب Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa Marie Niestroj, Juliana Du, Carla Marini, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P.C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    منشور في 2020
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  20. 20
    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications حسب Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki, Mihaela Adela Vințan, Joseph D. Symonds, James E. Andrew, Alexis Arzimanoglou, Sarah Delima, Julie Gallois, Donncha Hanrahan, Gaëtan Lesca, Stewart Macleod, Dragan Marjanović, Amy McTague, Noemi Nuñez-Enamorado, Eduardo Pérez‐Palma, Μ. Scott Perry, Karen Pysden, Sophie Russ-Hall, Ingrid E. Scheffer, Krystal Sully, Steffen Syrbe, Ulvi Vaher, Murugan Velayutham, Julie Vogt, Shelly K. Weiss, Elaine Wirrell, Sameer M. Zuberi, Dennis Lal, Rikke S. Møller, Massimo Mantegazza, Sandrine Cestèle

    منشور في 2022
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