Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies
Gallagher, Declan, Pérez‐Palma, Eduardo, Bruenger, Tobias, Ghanty, Ismael, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S., Nabbout, Rima, Regan, Brigid M., Schneider, Amy L., Scheffer, Ingrid E., Schoonjans, An‐Sofie, Symonds, Joseph D., Weckhuysen, Sarah, Zuberi, Sameer M., Lal, Dennis, Brunklaus, Andreas
Published in Epilepsia (Copenhagen) (01.04.2024)
Published in Epilepsia (Copenhagen) (01.04.2024)
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Journal Article
Wnt/β-catenin signaling in Alzheimer's disease
De Ferrari, Giancarlo V, Avila, Miguel E, Medina, Matias A, Perez-Palma, Eduardo, Bustos, Bernabe I, Alarcon, Marcelo A
Published in CNS & neurological disorders drug targets (01.01.2014)
Published in CNS & neurological disorders drug targets (01.01.2014)
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Journal Article
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
Stefanski, Arthur, Calle‐López, Yamile, Leu, Costin, Pérez‐Palma, Eduardo, Pestana‐Knight, Elia, Lal, Dennis
Published in Epilepsia (Copenhagen) (01.01.2021)
Published in Epilepsia (Copenhagen) (01.01.2021)
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Journal Article
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
Iqbal, Sumaiya, Pérez-Palma, Eduardo, Jespersen, Jakob B., May, Patrick, Hoksza, David, Heyne, Henrike O., Ahmed, Shehab S., Rifat, Zaara T., Rahman, M. Sohel, Lage, Kasper, Palotie, Aarno, Cottrell, Jeffrey R., Wagner, Florence F., Daly, Mark J., Campbell, Arthur J., Lal, Dennis
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (10.11.2020)
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Journal Article
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
Brunklaus, Andreas, Schorge, Stephanie, Smith, Alexander D., Ghanty, Ismael, Stewart, Kirsty, Gardiner, Sarah, Du, Juanjiangmeng, Pérez‐Palma, Eduardo, Symonds, Joseph D., Collier, Abby C., Lal, Dennis, Zuberi, Sameer M.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Journal Article
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A -Related Epilepsies
Brunklaus, Andreas, Pérez-Palma, Eduardo, Ghanty, Ismael, Xinge, Ji, Brilstra, Eva, Ceulemans, Berten, Chemaly, Nicole, de Lange, Iris, Depienne, Christel, Guerrini, Renzo, Mei, Davide, Møller, Rikke S, Nabbout, Rima, Regan, Brigid M, Schneider, Amy L, Scheffer, Ingrid E, Schoonjans, An-Sofie, Symonds, Joseph D, Weckhuysen, Sarah, Kattan, Michael W, Zuberi, Sameer M, Lal, Dennis
Published in Neurology (15.03.2022)
Published in Neurology (15.03.2022)
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Journal Article
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, Henrike O, Baez-Nieto, David, Iqbal, Sumaiya, Palmer, Duncan S, Brunklaus, Andreas, May, Patrick, Johannesen, Katrine M, Lauxmann, Stephan, Lemke, Johannes R, Møller, Rikke S, Pérez-Palma, Eduardo, Scholl, Ute I, Syrbe, Steffen, Lerche, Holger, Lal, Dennis, Campbell, Arthur J, Wang, Hao-Ran, Pan, Jen, Daly, Mark J
Published in Science translational medicine (12.08.2020)
Published in Science translational medicine (12.08.2020)
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Journal Article
Polygenic risk heterogeneity among focal epilepsies
Gramm, Marie, Leu, Costin, Pérez‐Palma, Eduardo, Ferguson, Lisa, Jehi, Lara, Daly, Mark J., Najm, Imad M., Busch, Robyn M., Lal, Dennis
Published in Epilepsia (Copenhagen) (01.11.2020)
Published in Epilepsia (Copenhagen) (01.11.2020)
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Journal Article
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Perez Palma, Eduardo, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Journal Article
Identification of pathogenic variant enriched regions across genes and gene families
Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O, Castrillon, Jessica A, O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Published in Genome research (01.01.2020)
Published in Genome research (01.01.2020)
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Journal Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis
Published in Brain (London, England : 1878) (01.12.2023)
Published in Brain (London, England : 1878) (01.12.2023)
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Journal Article
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe
Iqbal, Sumaiya, Hoksza, David, Pérez-Palma, Eduardo, May, Patrick, Jespersen, Jakob B, Ahmed, Shehab S, Rifat, Zaara T, Heyne, Henrike O, Rahman, M Sohel, Cottrell, Jeffrey R, Wagner, Florence F, Daly, Mark J, Campbell, Arthur J, Lal, Dennis
Published in Nucleic acids research (02.07.2020)
Published in Nucleic acids research (02.07.2020)
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Journal Article
Assessment of genetic variant burden in epilepsy-associated brain lesions
Niestroj, Lisa-Marie, May, Patrick, Artomov, Mykyta, Kobow, Katja, Coras, Roland, Pérez-Palma, Eduardo, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Leu, Costin, Palotie, Aarno, Daly, Mark J, Klein, Karl Martin, Beschorner, Rudi, Weber, Yvonne G, Blümcke, Ingmar, Lal, Dennis
Published in European journal of human genetics : EJHG (01.11.2019)
Published in European journal of human genetics : EJHG (01.11.2019)
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Journal Article
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry
Bustos, Bernabé I, Pérez-Palma, Eduardo, Buch, Stephan, Azócar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D, Toliat, Mohammad, Nürnberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schönfels, Witigo, Schafmayer, Clemens, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M, Santos, José Luis, Puschel, Klaus, Bambs, Claudia, Roa, Juan Carlos, Gutiérrez, Rodrigo A, Hampe, Jochen, De Ferrari, Giancarlo V, Miquel, Juan Francisco
Published in Scientific reports (28.01.2019)
Published in Scientific reports (28.01.2019)
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Journal Article
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
Lal, Dennis, May, Patrick, Perez-Palma, Eduardo, Samocha, Kaitlin E, Kosmicki, Jack A, Robinson, Elise B, Møller, Rikke S, Krause, Roland, Nürnberg, Peter, Weckhuysen, Sarah, De Jonghe, Peter, Guerrini, Renzo, Niestroj, Lisa M, Du, Juliana, Marini, Carla, Ware, James S, Kurki, Mitja, Gormley, Padhraig, Tang, Sha, Wu, Sitao, Biskup, Saskia, Poduri, Annapurna, Neubauer, Bernd A, Koeleman, Bobby P C, Helbig, Katherine L, Weber, Yvonne G, Helbig, Ingo, Majithia, Amit R, Palotie, Aarno, Daly, Mark J
Published in Genome medicine (17.03.2020)
Published in Genome medicine (17.03.2020)
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Journal Article
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies
Beltrán-Corbellini, Álvaro, Aledo-Serrano, Ángel, Møller, Rikke S, Pérez-Palma, Eduardo, García-Morales, Irene, Toledano, Rafael, Gil-Nagel, Antonio
Published in Frontiers in neurology (17.02.2022)
Published in Frontiers in neurology (17.02.2022)
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Journal Article
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
Pérez-Palma, Eduardo, Helbig, Ingo, Klein, Karl Martin, Anttila, Verneri, Horn, Heiko, Reinthaler, Eva Maria, Gormley, Padhraig, Ganna, Andrea, Byrnes, Andrea, Pernhorst, Katharina, Toliat, Mohammad R, Saarentaus, Elmo, Howrigan, Daniel P, Hoffman, Per, Miquel, Juan Francisco, De Ferrari, Giancarlo V, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Neubauer, Bern A, Becker, Albert J, Rosenow, Felix, Perucca, Emilio, Zara, Federico, Weber, Yvonne G, Lal, Dennis
Published in Journal of medical genetics (01.09.2017)
Published in Journal of medical genetics (01.09.2017)
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Journal Article
Copy number variants in lipid metabolism genes are associated with gallstones disease in men
Pérez-Palma, Eduardo, Bustos, Bernabé I, Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shönfels, Witigo, Schafmayer, Clemens, Ahnert, Peter, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M, Puschel, Klaus, Gutiérrez, Rodrigo A, Hampe, Jochen, Nürnberg, Peter, Miquel, Juan Francisco, De Ferrari, Giancarlo V
Published in European journal of human genetics : EJHG (01.02.2020)
Published in European journal of human genetics : EJHG (01.02.2020)
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Journal Article
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans
Vidal, Elena A, Moyano, Tomás C, Bustos, Bernabé I, Pérez-Palma, Eduardo, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azócar, Lorena, Soto, Daniela C, Vidal, Mabel, Di Genova, Alex, Puschel, Klaus, Nürnberg, Peter, Buch, Stephan, Hampe, Jochen, Allende, Miguel L, Cambiazo, Verónica, González, Mauricio, Hodar, Christian, Montecino, Martín, Muñoz-Espinoza, Claudia, Orellana, Ariel, Reyes-Jara, Angélica, Travisany, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro, De Ferrari, Giancarlo V, Miquel, Juan Francisco, Gutiérrez, Rodrigo A
Published in Scientific reports (14.02.2019)
Published in Scientific reports (14.02.2019)
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Journal Article
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies
Pérez-Palma, Eduardo, Bustos, Bernabé I, Villamán, Camilo F, Alarcón, Marcelo A, Avila, Miguel E, Ugarte, Giorgia D, Reyes, Ariel E, Opazo, Carlos, De Ferrari, Giancarlo V
Published in PloS one (01.04.2014)
Published in PloS one (01.04.2014)
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