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)