{"id":1246,"date":"2021-05-13T17:16:30","date_gmt":"2021-05-13T17:16:30","guid":{"rendered":"http:\/\/medicina.udd.cl\/doctorado\/?post_type=person&p=1246"},"modified":"2025-09-02T13:17:08","modified_gmt":"2025-09-02T17:17:08","slug":"eduardo-perez-palma","status":"publish","type":"person","link":"https:\/\/medicina.udd.cl\/doctorado\/persona\/eduardo-perez-palma\/","title":{"rendered":"Eduardo P\u00e9rez Palma"},"featured_media":2946,"template":"","people_tax":[],"people_areas":[],"people_levels":[],"class_list":["post-1246","person","type-person","status-publish","has-post-thumbnail","hentry","people_list-nucleo-academico"],"yoast_head":"\nEduardo P\u00e9rez Palma - Doctorado en Ciencias e Innovaci\u00f3n en Medicina<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Eduardo P\u00e9rez Palma - 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Chile, 2017<\/li>\n<li>Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2010<\/li>\n<\/ul>\n<h2>L\u00cdNEAS DE INVESTIGACI\u00d3N<\/h2>\n<ul>\n<li>The genetics behind epilepsy and neurodevelopmental disorders<\/li>\n<li>Understand disease presentation and predict prognosis<\/li>\n<li>Develop methods and tools for variant interpretation<\/li>\n<li>Build bridges between novel genetic knowledge and clinical practice<\/li>\n<\/ul>\n<h2>BIO<\/h2>\n<p><span>Experiencia Acad\u00e9mica<\/span><\/p>\n<ul>\n<li>Assintant Teacher Part Time<br \/>UNIVERSIDAD ANDRES BELLO<br \/>Biological sciences<br \/>Santiago, Chile<br \/>2010 \u2013 2011<\/li>\n<\/ul>\n<p><span>Experiencia Profesional<\/span><\/p>\n<ul>\n<li>Postdoctoral Fellow Full Time<br \/>University of Cologne<br \/>Cologne, Alemania<br \/>2017 \u2013 2019<\/li>\n<li>Tesista de doctorado Full Time<br \/>FONDAP Center for Genome Regulation (CRG 15090007)<br \/>Santiago, Chile<br \/>2013 \u2013 2016<\/li>\n<li>Research associate Full Time<br \/>Cleveland Clinic<br \/>Cleveland, Estados Unidos<br \/>2019 \u2013 2020<\/li>\n<\/ul>\n<h2>INVESTIGACI\u00d3N Y PUBLICACIONES<\/h2>\n<p><span>\u00daltimos art\u00edculos cient\u00edficos<\/span><\/p>\n<ul>\n<li>CLINICAL SEQUENCING YIELD IN EPILEPSY, AUTISM SPECTRUM DISORDER, AND INTELLECTUAL DISABILITY: A SYSTEMATIC REVIEW AND META-ANALYSIS<br \/>Stefanski, Arthur; Calle-Lopez, Yamile; Leu, Costin; Perez-Palma, Eduardo; Pestana-Knight, Elia; Lal, Dennis<br \/>EPILEPSIA\u00a0 (2021)<\/li>\n<li>A CATALOGUE OF NEW INCIDENCE ESTIMATES OF MONOGENIC NEURODEVELOPMENTAL DISORDERS CAUSED BY DE NOVO VARIANTS<br \/>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<br \/>BRAIN\u00a0 (2020)<\/li>\n<li>COMPREHENSIVE CHARACTERIZATION OF AMINO ACID POSITIONS IN PROTEIN STRUCTURES REVEALS MOLECULAR EFFECT OF MISSENSE VARIANTS<br \/>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<br \/>PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA\u00a0 (2020)<\/li>\n<li>COPY NUMBER VARIANTS IN LIPID METABOLISM GENES ARE ASSOCIATED WITH GALLSTONES DISEASE IN MEN<br \/>P\u00c3\u00a9rez-Palma E.; Bustos B.I.; Lal D.; Buch S.; Azocar L.; Toliat M.R.; Lieb W.; Franke A.; Hinz S.; Burmeister G.; von Sh\u00c3\u00b6nfels W.; Schafmayer C.; Ahnert P.; V\u00c3\u00b6lzke H.; V\u00c3\u00b6lker U.; Homuth G.; Lerch M.M.; Puschel K.; Guti\u00c3\u00a9rrez R.A.; Hampe J.; N\u00c3\u00bcrnberg P.; Miquel, J.F; De Ferrari G.V<br \/>(2020)<\/li>\n<li>CURRENT KNOWLEDGE OF SLC6A1-RELATED NEURODEVELOPMENTAL DISORDERS<br \/>Goodspeed, Kimberly; P\u00e9rez-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; M\u00f8ller, Rikke S; Freed, Amber; Lal, Dennis<br \/>BRAIN COMMUNICATIONS\u00a0 (2020)<\/li>\n<li>EPILEPSY SUBTYPE-SPECIFIC COPY NUMBER BURDEN OBSERVED IN A GENOME-WIDE STUDY OF 17 458 SUBJECTS<br \/>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<br \/>BRAIN\u00a0 (2020)<\/li>\n<li>GENE FAMILY INFORMATION FACILITATES VARIANT INTERPRETATION AND IDENTIFICATION OF DISEASE-ASSOCIATED GENES IN NEURODEVELOPMENTAL DISORDERS<br \/>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<br \/>GENOME MEDICINE\u00a0 (2020)<\/li>\n<li>GENOME-WIDE ANALYSIS OF COPY NUMBER VARIATION IN LATIN AMERICAN PARKINSON’S DISEASE PATIENTS<br \/>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<br \/>MOVEMENT DISORDERS\u00a0 (2020)<\/li>\n<li>IDENTIFICATION OF PATHOGENIC VARIANT ENRICHED REGIONS ACROSS GENES AND GENE FAMILIES<br \/>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<br \/>GENOME RESEARCH\u00a0 (2020)<\/li>\n<li>MISCAST: MISSENSE VARIANT TO PROTEIN STRUCTURE ANALYSIS WEB SUITE<br \/>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<br \/>NUCLEIC ACIDS RESEARCH\u00a0 (2020)<\/li>\n<li>POLYGENIC RISK HETEROGENEITY AMONG FOCAL EPILEPSIES<br \/>Gramm, Marie; Leu, Costin; Perez-Palma, Eduardo; Ferguson, Lisa; Jehi, Lara; Daly, Mark J.; Najm, Imad M.; Busch, Robyn M.; Lal, Dennis<br \/>EPILEPSIA\u00a0 (2020)<\/li>\n<\/ul>\n<\/div>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n"},"identifier":"df1a27bc4c2d2984e327a5ac7ee29802cca5f070","has_credential":[],"given_name":"Eduardo","family_name":"P\u00e9rez Palma","name":"Eduardo P\u00e9rez Palma","job_title":"Investigador docente del Centro de Gen\u00e9tica y Gen\u00f3mica","telephone":"","note":"","im":"","_self_schedule":null,"_links":{"self":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people\/1246","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people"}],"about":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/types\/person"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/media\/2946"}],"wp:attachment":[{"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/media?parent=1246"}],"wp:term":[{"taxonomy":"people_tax","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_tax?post=1246"},{"taxonomy":"people_areas","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_areas?post=1246"},{"taxonomy":"people_levels","embeddable":true,"href":"https:\/\/medicina.udd.cl\/doctorado\/wp-json\/wp\/v2\/people_levels?post=1246"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}