FORMACIÓN
- Human genetics, Bioinformatics, UNIVERSIDAD ANDRES BELLO. Chile, 2017
- Bioengineering, UNIVERSIDAD DE CONCEPCION. Chile, 2010
LÍNEAS DE INVESTIGACIÓN
- 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
BIO
Experiencia Académica
- Assintant Teacher Part Time
UNIVERSIDAD ANDRES BELLO
Biological sciences
Santiago, Chile
2010 – 2011
Experiencia Profesional
- 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
INVESTIGACIÓN Y PUBLICACIONES
Últimos artículos científicos
- 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
EPILEPSIA (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
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
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
Pérez-Palma E.; Bustos B.I.; Lal D.; Buch S.; Azocar L.; Toliat M.R.; Lieb W.; Franke A.; Hinz S.; Burmeister G.; von Shönfels W.; Schafmayer C.; Ahnert P.; Völzke H.; Völker U.; Homuth G.; Lerch M.M.; Puschel K.; Gutiérrez R.A.; Hampe J.; Nürnberg P.; Miquel, J.F; De Ferrari G.V
(2020) - CURRENT KNOWLEDGE OF SLC6A1-RELATED NEURODEVELOPMENTAL DISORDERS
Goodspeed, Kimberly; Pérez-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; Møller, Rikke S; Freed, Amber; Lal, Dennis
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
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
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
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
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
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
EPILEPSIA (2020)