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Eduardo Esteban Pérez Palma

Profesor Investigador Asociado

Universidad del Desarrollo

Santiago, Chile

The genetics behind epilepsy and neurodevelopmental disorders. Understand disease presentation and predict prognosis. Develop methods and tools for variant interpretation. Build bridges between novel genetic knowledge and clinical practice.

Human genetics, Bioinformatics, UNIVERSIDAD ANDRES BELLO. Chile, 2017
Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2011

Assintant Teacher Part Time

UNIVERSIDAD ANDRES BELLO

Biological sciences

Santiago, Chile

2010 - 2011
Profesor Asociado Full Time

Universidad del Desarrollo

Facultad de Medicina Clinica Alemana

Santiago de Chile, Chile

2021 - At present

Postdoctoral Fellow Full Time

University of Cologne

Cologne, Alemania

2017 - 2019
Tesista de doctorado Full Time

FONDAP Center for Genome Regulation (CRG 15090007)

Santiago, Chile

2013 - 2016
Research associate Full Time

Cleveland Clinic

Cleveland, Estados Unidos

2019 - 2020
Profesor Investigador Asociado Full Time

Universidad del Desarrollo

Santiago de Chile, Chile

2021 - At present


CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L.; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S; Lemke, Johannes R.; Nothnagel, Michael; May, Patrick; Lal, Dennis Article BIOINFORMATICS (2023)
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes Brunger, Tobias; Perez-Palma, Eduardo; Montanucci, Ludovica; Nothnagel, Michael; Moller, Rikke S.; Schorge, Stephanie; Zuberi, Sameer; Symonds, Joseph; Lemke, Johannes R.; Brunklaus, Andreas; Traynelis, Stephen F.; May, Patrick; Lal, Dennis Article ISI BRAIN (2023)
Data-driven historical characterization of epilepsy-associated genes Macnee, Marie; Perez-Palma, Eduardo; Lopez-Rivera, Javier A.; Ivaniuk, Alina; May, Patrick; Moller, Rikke S.; Lal, Dennis Article ISI EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2023)
Delineation of functionally essential protein regions for 242 neurodevelopmental genes Iqbal, Sumaiya; Bruenger, Tobias; Perez-Palma, Eduardo; Macnee, Marie; Brunklaus, Andreas; Daly, Mark J.; Campbell, Arthur J.; Hoksza, David; May, Patrick; Lal, Dennis Article ISI BRAIN (2023)
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome Zarate, Yuri A.; Bosanko, Katherine; Kannan, Amrit; Thomason, Ashlen; Nutt, Beth; Kumar, Nihit; Simmons, Kirt; Hiegert, Aaron; Hartzell, Larry; Johnson, Adam; Prater, Tabitha; Perez-Palma, Eduardo; Bruenger, Tobias; Stefanski, Arthur; Lal, Dennis; Caffrey, Aisling R. Article ISI HUMAN MUTATION (2023)
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions Lopez-Rivera, Javier A.; Leu, Costin; Macnee, Marie; Khoury, Jean; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Bhattarai, Nisha; Perez-Palma, Eduardo; Hamer, Hajo; Brandner, Sebastian; Roessler, Karl; Bien, Christian G.; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Butler, Elizabeth; Genovese, Giulio; Becker, Kerstin; Altmueller, Janine; Niestroj, Lisa-Marie; Ferguson, Lisa; Busch, Robyn M.; Nuernberg, Peter; Najm, Imad; Bluemcke, Ingmar; Lal, Dennis Article ISI BRAIN (2023)
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort Baez-Nieto, David; Allen, Andrew; Akers-Campbell, Seth; Yang, Lingling; Budnik, Nikita; Pupo, Amaury; Shin, Young-Cheul; Genovese, Giulio; Liao, Maofu; Perez-Palma, Eduardo; Heyne, Henrike; Lal, Dennis; Lipscombe, Diane; Pan, Jen Q. Article ISI BRAIN (2022)
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies Brunklaus, Andreas; Perez-Palma, Eduardo; Ghanty, Ismael; Xinge, Ji; Brilstra, Eva; Ceulemans, Berten; Chemaly, Nicole; de Lange, Iris; Depienne, Christel; Guerrini, Renzo; Mei, Davide; Moller, 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 Article ISI NEUROLOGY (2022)
Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies Beltran-Corbellini, Alvaro; Aledo-Serrano, Angel; Moller, Rikke S.; Perez-Palma, Eduardo; Garcia-Morales, Irene; Toledano, Rafael; Gil-Nagel, Antonio Article ISI FRONTIERS IN NEUROLOGY (2022)
Gene variant effects across sodium channelopathies predict function and guide precision therapy Brunklaus, Andreas; Feng, Tony; Brunger, Tobias; Perez-Palma, Eduardo; Heyne, Henrike; Matthews, Emma; Semsarian, Christopher; Symonds, Joseph D.; Zuberi, Sameer M.; Lal, Dennis; Schorge, Stephanie Article ISI BRAIN (2022)
Incidence and prevalence of major epilepsy-associated brain lesions Lopez-Rivera, Javier A. A.; Smuk, Victoria; Leu, Costin; Nasr, Gaelle; Vegh, Deborah; Stefanski, Arthur; Perez-Palma, Eduardo; Busch, Robyn; Jehi, Lara; Najm, Imad; Bluemcke, Ingmar; Lal, Dennis Article ISI EPILEPSY BEHAVIOR REPORTS (2022)
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; Palma, Eduardo Perez; Pinter, Stefan; Pollak, Rebecca; Purcell, Ryan; Samaco, Rodney; Shah, Bina; Singh, Karun; So, Joyce; Sundberg, Maria; Veeraragavan, Surabi; Vogel-Farley, Vanessa; Wynshaw-Boris, Anthony; Commission Novel Technologies Neur Article ISI AMERICAN JOURNAL OF HUMAN GENETICS (2022)
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations Johannesen, Katrine M.; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A.; Perez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A.; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H.; Verbeek, Nienke E.; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M. H.; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R.; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K.; Dinopoulos, Argirios; Campbell, Arthur J.; Lal, Dennis; Lederer, Damien; Liao, Vivian W. Y.; Ahring, Philip K.; Moller, Rikke S.; Gardella, Elena Article ISI GENETICS IN MEDICINE (2022)
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications Brunklaus, Andreas; Bruenger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; Symonds, Joseph; Andrew, James; Arzimanoglou, Alexis; Delima, Sarah; Gallois, Julie; Hanrahan, Donncha; Lesca, Gaetan; MacLeod, Stewart; Marjanovic, Dragan; McTague, Amy; Nunez-Enamorado, Noemi; Perez-Palma, Eduardo; Scott Perry, M.; Pysden, Karen; Russ-Hall, Sophie J.; Scheffer, Ingrid E.; Sully, Krystal; Syrbe, Steffen; Vaher, Ulvi; Velayutham, Murugan; Vogt, Julie; Weiss, Shelly; Wirrell, Elaine; Zuberi, Sameer M.; Lal, Dennis; Moller, Rikke S.; Mantegazza, Massimo; Cestele, Sandrine Article ISI BRAIN (2022)
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis Stefanski, Arthur; Calle-Lopez, Yamile; Leu, Costin; Perez-Palma, Eduardo; Pestana-Knight, Elia; Lal, Dennis Article ISI EPILEPSIA (2021)
SimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities Macnee, Marie; Perez-Palma, Eduardo; Schumacher-Bass, Sarah; Dalton, Jarrod; Leu, Costin; Blankenberg, Daniel; Lal, Dennis Article ISI BIOINFORMATICS (2021)
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants Lopez-Rivera, Javier A.; Perez-Palma, Eduardo; Symonds, Joseph; Lindy, Amanda S.; McKnight, Dianalee A.; Leu, Costin; Zuberi, Sameer; Brunklaus, Andreas; Moller, Rikke S.; Lal, Dennis Article ISI BRAIN (2020)
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants Iqbal, Sumaiya; Perez-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 Article ISI PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Copy number variants in lipid metabolism genes are associated with gallstones disease in men PÃ©rez-Palma E.; Bustos B.I.; Lal D.; Buch S.; Azocar L.; Toliat M.R.; Lieb W.; Franke A.; Hinz S.; Burmeister G.; von ShÃ¶nfels W.; Schafmayer C.; Ahnert P.; VÃ¶lzke H.; VÃ¶lker U.; Homuth G.; Lerch M.M.; Puschel K.; GutiÃ©rrez R.A.; Hampe J.; NÃ¼rnberg P.; Miquel, J.F; De Ferrari G.V. Article ISI SCOPUS EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Current knowledge of SLC6A1-related neurodevelopmental disorders Goodspeed, Kimberly; Perez-Palma, Eduardo; Iqbal, Sumaiya; Cooper, Dominique; Scimemi, Annalisa; Johannesen, Katrine M.; Stefanski, Arthur; Demarest, Scott; Helbig, Katherine L.; Kang, Jingqiong; Shaffo, Frances C.; Prentice, Brandon; Brownstein, Catherine A.; Lim, Byungchan; Helbig, Ingo; De Los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; Campbell, Arthur J.; Moller, Rikke S.; Freed, Amber; Lal, Dennis Article ISI BRAIN COMMUNICATIONS (2020)
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects Niestroj, Lisa-Marie; Perez-Palma, Eduardo; Howrigan, Daniel P.; Zhou, Yadi; Cheng, Feixiong; Saarentaus, Elmo; Nuernberg, Peter; Stevelink, Remi; Daly, Mark J.; Palotie, Aarno; Lal, Dennis; Epi25 Collaborative Article ISI BRAIN (2020)
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.; Moller, Rikke S.; Krause, Roland; Nuernberg, 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.; EuroEPINOMICS-RES Consortium Article ISI GENOME MEDICINE (2020)
Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients Sarihan, Elif Irem; Perez-Palma, Eduardo; Niestroj, Lisa-Marie; Loesch, Douglas; Inca-Martinez, Miguel; Horimoto, Andrea R. V. R.; Cornejo-Olivas, Mario; Torres, Luis; Mazzetti, Pilar; Cosentino, Carlos; Sarapura-Castro, Elison; Rivera-Valdivia, Andrea; Dieguez, Elena; Raggio, Victor; Lescano, Andres; Tumas, Vitor; Borges, Vanderci; Ferraz, Henrique B.; Rieder, Carlos R.; Schumacher-Schuh, Artur F.; Santos-Lobato, Bruno L.; Velez-Pardo, Carlos; Jimenez-Del-Rio, Marlene; Lopera, Francisco; Moreno, Sonia; Chana-Cuevas, Pedro; Fernandez, William; Arboleda, Gonzalo; Arboleda, Humberto; Arboleda-Bustos, Carlos E.; Yearout, Dora; Zabetian, Cyrus P.; Thornton, Timothy A.; O'Connor, Timothy D.; Lal, Dennis; Mata, Ignacio F.; Latin Amer Res Consortium Genetics Article ISI MOVEMENT DISORDERS (2020)
Identification of pathogenic variant enriched regions across genes and gene families Perez-Palma, Eduardo; May, Patrick; Iqbal, Sumaiya; Niestroj, Lisa-Marie; Du, Juanjiangmeng; Heyne, Henrike O.; Castrillon, Jessica A.; O'Donnell-Luria, Anne; Nuernberg, Peter; Palotie, Aarno; Daly, Mark; Lal, Dennis Article ISI GENOME RESEARCH (2020)
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe Iqbal, Sumaiya; Hoksza, David; Perez-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 Article ISI NUCLEIC ACIDS RESEARCH (2020)
Polygenic risk heterogeneity among focal epilepsies Gramm, Marie; Leu, Costin; Perez-Palma, Eduardo; Ferguson, Lisa; Jehi, Lara; Daly, Mark J.; Najm, Imad M.; Busch, Robyn M.; Lal, Dennis Article ISI EPILEPSIA (2020)
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.; Moller, Rikke S.; Perez-Palma, Eduardo; Scholl, Ute, I; Syrbe, Steffen; Lerche, Holger; Lal, Dennis; Campbell, Arthur J.; Wang, Hao-Ran; Pan, Jen; Daly, Mark J.; Epi25 Collaborative Article ISI SCIENCE TRANSLATIONAL MEDICINE (2020)
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; Perez-Palma, Eduardo; Symonds, Joseph D.; Collier, Abby C.; Lal, Dennis; Zuberi, Sameer M. Article ISI HUMAN MUTATION (2020)
The role of sodium channels in sudden unexpected death in pediatrics Rochtus, Anne M.; Goldstein, Richard D.; Holm, Ingrid A.; Brownstein, Catherine A.; Perez-Palma, Eduardo; Haynes, Robin; Lal, Dennis; Poduri, Annapurna H. Article ISI MOLECULAR GENETICS GENOMIC MEDICINE (2020)
Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies Brunklaus, Andreas; Leu, Costin; Gramm, Marie; Perez-Palma, Eduardo; Iqbal, Sumaiya; Lal, Dennis Article ISI EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2020)
Assessment of genetic variant burden in epilepsy-associated brain lesions Niestroj, Lisa-Marie; May, Patrick; Artomov, Mykyta; Kobow, Katja; Coras, Roland; Perez-Palma, Eduardo; Altmueller, Janine; Thiele, Holger; Nuernberg, Peter; Leu, Costin; Palotie, Aarno; Daly, Mark J.; Klein, Karl Martin; Beschorner, Rudi; Weber, Yvonne G.; Bluemcke, Ingmar; Lal, Dennis Article ISI EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy Lerche, Holger; Berkovic, Samuel F.; Lowenstein, Daniel H.; May, P.; Wolking, S.; Musa, M. K.; Lal, D.; Heyne, H. O.; Bobbili, D. R.; Perez-Palma, E.; Schubert, J.; Becker, F.; Thiele, H.; Altmueller, J.; Jabbari, K.; Ruppert, A. K.; Jurkowski, W.; Striano, P.; Caglayan, H.; Yalcin, D.; Dizdarer, G.; Aslan, K.; Yapici, Z.; Kuscu, D.; Siren, A.; Moller, R. S.; Hjalgrim, H.; Nikanorova, M.; Muhle, H.; Helbig, I; Kunz, W.; Weber, Y.; Weckhuysen, S.; Jonghe, P.; Sisodiya, S.; Nabbout, R.; Balling, R.; Sander, T.; Koeleman, B. P. C.; Palotie, A.; Lehesjoki, A. E.; Nothnagel, M.; Nuernberg, P.; Zara, F.; Krause, R.; Lerche, H.; Leu, C.; Peter, S.; Weber, Y. G.; Avbersek, A.; Heggeli, K.; Gambardella, A.; Langley, S. R.; Krenn, M.; Klein, K. M.; McCormack, M.; Borghei, M.; Willis, J.; Berghuis, B.; Jorgensen, A.; Auce, P.; Francis, B.; Srivastava, P.; Sonsma, A. C. M.; Sander, J. W.; Zimprich, F.; Depondt, C.; Johnson, M. M.; Marson, A. G.; Sills, G. J.; Kunz, W. S.; Cavalleri, G. L.; Delanty, N.; Sisodiya, S. M.; Heinzen, E. L.; Petrovski, S.; Allen, A. S.; Bellows, S. T.; Berkovic, S. F.; Bridgers, J.; Burgess, R.; Cavalleri, G.; Chung, S. K.; Cossette, P.; Dlugos, D.; Epstein, M. P.; Freyer, C.; Goldstein, D. B.; Hildebrand, M. S.; Johnson, M. R.; Kuzniecky, R.; Lowenstein, D. H.; Mayeux, R.; Mebane, C.; Mefford, H. C.; O'Brien, T. J.; Ottman, R.; Petrou, S.; Pickrell, W. O.; Poduri, A.; Radtke, R. A.; Rees, M., I; Regan, B. M.; Ren, Z.; Scheffer, I. E.; Thomas, R. H.; Wang, Q.; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium Epilepsy Phenome Article ISI NEW ENGLAND JOURNAL OF MEDICINE (2019)
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database Perez-Palma, Eduardo; Gramm, Marie; Nuernberg, Peter; May, Patrick; Lal, Dennis Article ISI NUCLEIC ACIDS RESEARCH (2019)
Spectrum of GABA(A) receptor variants in epilepsy Maljevic, Snezana; Moller, Rikke S.; Reid, Christopher A.; Perez-Palma, Eduardo; Lal, Dennis; May, Patrick; Lerche, Holger Article ISI CURRENT OPINION IN NEUROLOGY (2019)
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region Kelly, McKenna; Park, Meredith; Mihalek, Ivana; Rochtus, Anne; Gramm, Marie; Perez-Palma, Eduardo; Axeen, Erika Takle; Hung, Christina Y.; Olson, Heather; Swanson, Lindsay; Anselm, Irina; Briere, Lauren C.; High, Frances A.; Sweetser, David A.; Kayani, Saima; Snyder, Molly; Calvert, Sophie; Scheffer, Ingrid E.; Yang, Edward; Waugh, Jeff L.; Lal, Dennis; Bodamer, Olaf; Poduri, Annapurna; Adams, David R.; Aday, Aaron; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F.; Beggs, Alan H.; Behnam, Babak; Bellen, Hugo J.; Bernstein, Jonathan A.; Bican, Anna; Bick, David P.; Birch, Camille L.; Bonner, Devon; Boone, Braden E.; Bostwick, Bret L.; Brokamp, Elly; Brown, Donna M.; Brush, Matthew; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Chen, Shan; Clark, Gary D.; Coakley, Terra R.; Cogan, Joy D.; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; D'Souza, Precilla; Davids, Mariska; Davidson, Jean M.; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina M.; Donnell-Fink, Laurel A.; Dorrani, Naghmeh; Dorset, Daniel C.; Douine, Emilie D.; Draper, David D.; Dries, Annika M.; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Enns, Gre-Gory M.; Eskin, Ascia; Esteves, Cecilia; Estwick, Tyra; Fairbrother, Laura; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Friedman, Noah D.; Gahl, William A.; Glanton, Emily; Godfrey, Rena A.; Goldman, Alica M.; Goldstein, David B.; Gould, Sarah E.; Gourdine, Jean-Philippe F.; Groden, Catherine A.; Gropman, Andrea L.; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A.; High, Francis; Holm, Ingrid A.; Horn, Jason; Howerton, Ellen M.; Huang, Yong; Jamal, Fariha; Jiang, Yong-hui; Johnston, Jean M.; Jones, Angela L.; Karaviti, Lefkothea; Koeller, David M.; Kohane, Isaac S.; Kohler, Jennefer N.; Konick, Susan; Koziura, Mary; Krasnewich, Donna M.; Krier, Joel B.; Kyle, Jennifer E.; Lalani, Seema R.; Lau, C. Christopher; Lazar, Jozef; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levy, Shawn E.; Lewis, Richard A.; Lincoln, Sharyn A.; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Majch-erska, Marta M.; Malicdan, May Christine, V; Mamounas, Laura A.; Manolio, Teri A.; Markello, Thomas C.; Marom, Ronit; Martin, Martin G.; Martinez-Agosto, Julian A.; Mar-waha, Shruti; May, Thomas; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa F.; Merker, Jason D.; Metz, Thomas O.; Might, Matthew; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Murphy, Jennifer L.; Muzny, Donna M.; Nehrebecky, Michele E.; Nelson, Stan F.; Newberry, J. Scott; Newman, John H.; Nicholas, Sarah K.; Novacic, Donna; Orange, Jordan S.; Orengo, James P.; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Pena, Loren D. M.; Phillips, John A., III; Posey, Jennifer E.; Postlethwait, John H.; Potocki, Lorraine; Pusey, Barbara N.; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Sampson, Jacinda B.; Samson, Susan L.; Schoch, Kelly; Scott, Daryl A.; Shakachite, Lisa; Sharma, Prashant; Shashi, Vandana; Signer, Rebecca; Silverman, Edwin K.; Sinsheimer, Janet S.; Smith, Kevin S.; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Tan, Queenie K-G; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Urv, Tiina K.; Vilain, Eric; Vogel, Tiphanie P.; Waggott, Daryl M.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Walsh, Chris A.; Wan, Jijun; Wangler, Michael F.; Ward, Patricia A.; Waters, Katrina M.; Webb-Robertson, Bobbie-Jo M.; Westerfield, Monte; Wheeler, Matthew T.; Wise, Anastasia L.; Wolfe, Lynne A.; Worthey, Elizabeth A.; Yamamoto, Shinya; Yang, Yaping; Yoon, Amanda J.; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zheng, Allison; Undiagnosed Dis Network Article ISI EPILEPSIA (2019)
Variant Score Ranker-a web application for intuitive missense variant prioritization Du, Juanjiangmeng; Sudarsanam, Monica; Perez-Palma, Eduardo; Ganna, Andrea; Francioli, Laurent; Iqbal, Sumaiya; Niestroj, Lisa-Marie; Leu, Costin; Weisburd, Ben; Poterba, Tim; Nuernberg, Peter; Daly, Mark J.; Palotie, Aarno; May, Patrick; Lal, Dennis Article ISI BIOINFORMATICS (2019)
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry Bustos, BI; Perez-Palma, E; Buch, S; Azocar, L; Riveras, E; Ugarte, GD; Toliat, M; Nurnberg, P; Lieb, W; Franke, A; Hinz S.; Burmeister, G; von Schonfels, W; Schafmayer C.; Volzke, H; Volker, U; Homuth, G; Lerch, MM; Santos, JL; Puschel, K; Bambs, C; Roa, JC; gutierrez ra; Hampe, J; De Ferrari, GV; Miquel, JF Article ISI SCOPUS SCIENTIFIC REPORTS (2019)
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans Vidal, Elena A; Moyano, Tomas C.; Bustos, Bernabe, I; Perez-Palma, Eduardo; Moraga, Carol; Riveras, Eleodoro; Montecinos, Alejandro; Azocar, Lorena; Soto, Daniela C.; Vidal, Mabel; Di Genoval, Alex; Puschel, Klaus; Nurnberg, Peter; Buch, Stephan; Hampe, Jochen; Allende, Miguel L.; Cambiazo, Veronica; Gonzalez, Mauricio; Hodar, Christian; Montecino, Martin; Munoz-Espinoza, Claudia; Orellana, Ariel; Reyes-Jara, Angelica; Travisanyl, Dante; Vizoso, Paula; Moraga, Mauricio; Eyheramendy, Susana; Maass, Alejandro; De Ferrari, Giancarlo, V; Mique, Juan Francisco; Gutierrez, Rodrigo A. Article ISI SCOPUS SCIENTIFIC REPORTS (2019)
Duplications at 19q13.33 in patients with neurodevelopmental disorders Perez-Palma, E; Saarentaus, E; Ravoet, M; De Ferrari, GV; Nurnberg, P; Isidor, B; Neubauer, BA; Lal, D Article ISI SCOPUS NEUROLOGY-GENETICS (2018)
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies Pérez-Palma E.; Helbig I.; Klein K.M.; Anttila V.; Horn H.; Reinthaler E.M.; Gormley P.; Ganna A.; Byrnes A.; Pernhorst K.; Toliat M.R.; Saarentaus E.; Howrigan D.P.; Hoffman P.; Miquel J.F.; De Ferrari G.V.; Nürnberg P.; Lerche H.; Zimprich F.; Neubauer B.A.; Becker A.J.; Rosenow F.; Perucca E.; Zara F.; Weber Y.G.; Lal D. Article ISI SCOPUS JOURNAL OF MEDICAL GENETICS (2017)
Early Transcriptional Changes Induced by Wnt/beta-Catenin Signaling in Hippocampal Neurons P?rez-Palma, Eduardo; Andrade, V?ctor; Caracci, Mario O.; Bustos, Bernab? I.; Villaman, Camilo; Medina, Mat?as A.; ?vila, Miguel E.; Ugarte, Giorgia D.; De Ferrari, Giancarlo V. Article ISI SCOPUS NEURAL PLASTICITY (2016)
Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies Perez-Palma, E; Bustos, BI; Villaman, CF; Alarcón MA; Avila, ME; Ugarte, GD; Reyes, AE; Opazo C.; De Ferrari, GV Article ISI SCOPUS PLOS ONE (2014)
Wnt/?-catenin signaling in Alzheimer's disease De Ferrari G.V.; Avila M.E.; Medina M.A.; Pérez-Palma E.; Bustos B.I.; Alarcón M.A. Article SCOPUS CNS and Neurological Disorders - Drug Targets (2014)
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease Alarcón MA; Medina, MA; Hu, QB; Avila, ME; Bustos, BI; Perez-Palma, E; Peralta, A; salazar, P; Ugarte, GD; Reyes, AE; Martin, GM; Opazo C.; Moon RT.; De Ferrari, GV Article ISI SCOPUS Neurobiology of Aging (2013)


Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders Pérez-Palma E.; Niestroj, Lisa-Marie; Inca-Martinez, Miguel; Villaman, Camilo; Sarihan, Elif Irem; Lal, Denn; Mata, Ignacio F.; Proukakis Christos BookSection (2022)


Identification of common and rare genomic factors in Chilean epilepsy patients Repetto, Gabriela; Venegas, Viviana; Álvarez, Carolina; Legüe, Marcela Proyecto (2022)
Genética en Epilepsia: Caracterización de variantes genéticas raras y comunes en pacientes Chilenos con epilepsias y encefalopatías epilépticas del desarrollo Pérez-Palma, Eduardo Proyecto (2021)
Integrating clinical and genetic variables to model SCN2A variant pathogenicity and outcomes Pérez-Palma, Eduardo Proyecto (2021)
Proyecto de investigación Clinica Alemana. “Expandiendo el análisis genómico en pacientes pediátricos con epilepsias refractarias de causa no precisada” Venegas, Viviana; Pérez-Palma, Eduardo; Repetto, Gabriela Proyecto (2021)
A Novel System to evaluate SCN1A Pathogenicity Dravet Foundation Proyecto 2017-2018 Postdoctorado
MODULACION DE LA ACTIVIDAD TRANSCRIPCIONAL DE GENES COMUNMENTE TRANSLOCADOS EN LEUCEMIA POR LA VIA DE SEÑALIZACION WNT/BETA-CATENINA FONDECYT (3130509) Proyecto 2014-2017 Personal técnico y/o de apoyo
Identification of genetic and metabolic risk factors of gallstone disease in the Chilean population and development of novel strategies for primary prevention FONDECYT (1130303) Proyecto 2013-2016 Tesista
Center for Genome Regulation (CRG) FONDAP (15090007) Proyecto 2010-2020 Personal técnico y/o de apoyo
Identification and characterization of functional common genetic variants affecting Wnt signaling by integrative molecular genomics FONDECYT (1100942) Proyecto 2010-2013 Tesista

Eduardo Pérez

Profesor Investigador Asociado

Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana

Universidad del Desarrollo

Santiago, Chile

Giancarlo De Ferrari

Full Professor

Biological Sciences

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

Klaus Puschel

Full Professor

Family Medicine

FACULTAD MEDICINA PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

Matías Medina

Docente

Ciencias

Universidad San Sebastián

Puerto Montt, Chile

Miguel Ávila

Docente/Investigador

Universidad de las Américas

Santiago, Chile

Eleodoro Riveras

Investigador postdoctoral

Instituto de Biologia Integrativa, Ibio

Santiago, Chile

Rodrigo Gutierrez

Full Professor

Molecular Genetics & Microbiology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Claudia Muñoz

Investigadora

Biotecnología

Instituto de Investigaciones Agropecuarias INIA-La Platina

Santiago, Chile

Mabel Vidal

Academic

Computer Science

Universidad de Concepción

Concepcion, Chile

Miguel Allende

Director

Biología

FACULTAD DE CIENCIAS, UNIVERSIDAD DE CHILE

Santiago, Chile

Angelica Reyes

Profesor Asociado

INTA UNIVERSIDAD DE CHILE

Santiago, Chile

Veronica Cambiazo

Profesora titular

Unidad de Nutrición Básica

UNIVERSIDAD DE CHILE - INTA

Santiago, Chile

JOSE SANTOS

Full Professor

Department of Nutrition, Diabetes and Metabolism

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

CLAUDIA BAMBS

PROFESORA ASOCIADA

SALUD PÚBLICA

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Mauricio Gonzalez

Profesor Titular

INTA

UNIVERSIDAD DE CHILE - INSTITUTO DE NUTRICION Y TECNOLOGIA DE ALIMENTOS

Santiago, Chile

Pedro Chana Cuevas

Profesor Titular

Facultad de Ciencias Medicas

Universidad de Santiago

Santiago, Chile

Susana Eyheramendy

Full Professor

Universidad Adolfo Ibánez

Santiago, Chile

Mauricio Moraga

Profesor Asociado

Programa de Genética Humana

FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE

SANTIAGO, Chile

Ariel Orellana

Profesor Titular

Centro de Biotecnologia Vegetal

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

Martín Montecino

Director

Institute of Biomedical Sciences

UNIVERSIDAD ANDRES BELLO

Santiago, Chile

Christian Hodar

ASSISTANT PROFESSOR

BIOINFORMATICS & GENEXPRESSION LAB - INTA

UNIVERSIDAD DE CHILE

Santiago, Chile

Alex Di Genova

Associate professor

Engineering sciences

Universidad de O'Higgins

Rancagua, Chile

Carol Moraga

Assistant professor

Instituto Ciencias de la Ingeniería

Universidad de O'Higgins

Rancagua, Chile

Elena Vidal

Directora Programas de Doctorado

Centro de Genomica y Bioinformatica

Universidad Mayor de Chile

Santiago, Chile

Ariel Reyes

Director de Departamento

Ciencias Biológicas

UNIVERSIDAD ANDRÉS BELLO

Santiago, Chile

Juan Roa

Chair

Pathology

Pontificia Universidad Catolica de Chile

santiago, Chile

Dante Travisany

Profesor Asociado

Facultad de Ingeniería y Negocios

Universidad de Las Américas

Santiago, Chile

Eduardo Esteban Pérez Palma

Líneas de Investigación

Educación

Human genetics, Bioinformatics, UNIVERSIDAD ANDRES BELLO. Chile, 2017

Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2011

Experiencia Académica

Assintant Teacher Part Time

Profesor Asociado Full Time

Experiencia Profesional

Postdoctoral Fellow Full Time

Tesista de doctorado Full Time

Research associate Full Time

Profesor Investigador Asociado Full Time

Article (44)

BookSection (1)

Proyecto (9)

A Novel System to evaluate SCN1A Pathogenicity

MODULACION DE LA ACTIVIDAD TRANSCRIPCIONAL DE GENES COMUNMENTE TRANSLOCADOS EN LEUCEMIA POR LA VIA DE SEÑALIZACION WNT/BETA-CATENINA

Identification of genetic and metabolic risk factors of gallstone disease in the Chilean population and development of novel strategies for primary prevention

Center for Genome Regulation (CRG)

Identification and characterization of functional common genetic variants affecting Wnt signaling by integrative molecular genomics