María Gabriela Repetto Lisboa

Líneas de investigación

• Enfermedades raras

Proyectos adjudicados

• SOLVING THE UNSOLVED: AN INTERDISCIPLINARY EVALUATION OF PERSONAL SOCIAL AND HEALTH SYSTEM EFFECTS OF THE USE OF GENOMIC STRATEGIES FOR RARE UNDIAGNOSED DISORDERS (2021) Fuente: CONICYT | Rol:
• DEVELOPMENT OF NOVEL IMAGING TECHNIQUES TO STUDY THE BRAIN IN SEVERE MENTAL HEALTH DISORDERS (2019) Fuente: CONICYT | Rol:
• ADVANCING DISCOVERIES ON RARE DISORDERS THROUGH INTERNATIONAL COLLABORATION (2018) Fuente: CONICYT | Rol:
• MANIFESTACIONES PRODRÓMICAS DE LA ENFERMEDAD DE PARKINSON EN UN GRUPO DE ALTO RIESGO=> PERSONAS CON SÍNDROME DE MICRODELECIÓN 22Q11.2 (2017) Fuente: FONDEF (1171014) | Rol: INV. RESPONSABLE
• A CONNECTOMIC NEUROIMAGING STUDY OF THE 22Q11 DELETION SYNDROME=> A WINDOW INTO SCHIZOPHRENIA AND ITS GENETIC CAUSES (2016) Fuente: FONDECYT (1160736) | Rol: COINVESTIGADOR(A)
• CHROMOSOME 22Q11.2 MICRODELETION SYNDROME=> A WINDOW INTO UNDERSTANDING DEVELOPMENTAL DISEASES OF THE HEART AND BRAIN. (2014) Fuente: Canada-Latin America and the Caribbean Research Exchange Grants (LACREG) (NA) | Rol: INV. PRINCIPAL
• ANOMALÍAS CONGÉNITAS Y TRASTORNOS DEL DESARROLLO=> E VALUACIÓN DE COSTO-EFECTIVIDAD DE LAS NUEVAS HERRAMIENTAS DIA GNÓSTICAS. (2013) Fuente: FONIS (SA13I20321) | Rol: COINVESTIGADOR(A)
• INTERNATIONAL CONSORTIUM ON BRAIN AND BEHAVIOR IN 22Q11.2 DELETION SYNDROME GENOMIC RISK AND RESILIENCE IN 22Q11 DELETION SYNDROME=> A WINDOW INTO THE GENETIC ARCHITECTURE OF MENTAL DISORDERS (2013) Fuente: National Institutes of Health (1U01MH101723) | Rol: COINVESTIGADOR(A)
• PRODROMAL MANIFESTATIONS OF PARKINSONS DISEASE IN A HIGHRISK POPULATION: 22Q11.2 MICRODELETION SYNDROME (2017) Fuente: Fondecyt-CONICYT (Santiago;RM;CL) | Rol:
• ADVANCING KNOWLEDGE ON RARE DISORDERS THROUGH INTERNATIONAL COLLABORATION (2018) Fuente: CONiCYT-Redes Internacionales(Santiago;RM;CL) | Rol:
• DECODING COMPLEX INHERITED PHENOTYPES OF RARE DISORDERS (DECIPHERD) (2019) Fuente: Clinica Alemana-Universidad del Desarrollo(Santiago;RM;CL) | Rol:

Tus publicaciones

• PREVALENCE OF FILAGGRIN LOSS-OF-FUNCTION VARIANTS IN CHILEAN POPULATION WITH AND WITHOUT ATOPIC DERMATITIS Autores: Cardenas; Geovanna V.; Iturriaga; Carolina; Hernandez; Caroll D.; Tejos-Bravo; Macarena; Perez-Mateluna; Guillermo; Cabalin; Carolina; Urzua; Marcela; Venegas-Salas; Luis F.; Fraga; Juan P.; Rebolledo; Boris; Poli; Maria C.; Repetto; Gabriela M.; Casanello; Paola; Castro-Rodriguez; Jose A.; Borzutzky; Arturo Año: 2022 Link: https://doi.org/10.1111/ijd.15887
• CLINICAL NEUROIMAGING AND MOLECULAR SPECTRUM OF TECPR2-ASSOCIATED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH INTELLECTUAL DISABILITY Autores: Neuser; Sonja; Brechmann; Barbara; Heimer; Gali; Broesse; Ines; Schubert; Susanna; OGrady; Lauren; Zech; Michael; Srivastava; Siddharth; Sweetser; David A.; Dincer; Yasemin; Mall; Volker; Winkelmann; Juliane; Behrends; Christian; Darras; Basil T.; Graham; Robert J.; Jayakar; Parul; Byrne; Barry; Bar-Aluma; Bat El; Haberman; Yael; Szeinberg; Amir; Aldhalaan; Hesham M.; Hashem; Mais; Al Tenaiji; Amal; Ismayl; Omar; Al Nuaimi; Asma E.; Maher; Karima; Ibrahim; Shahnaz; Khan; Fatima; Houlden; Henry; Ramakumaran; Vijayalakshmi S.; Pagnamenta; Alistair T.; Posey; Jennifer E.; Lupski; James R.; Tan; Wen-Hann; ElGhazali; Gehad; Herman; Isabella; Munoz; Tatiana; Repetto; Gabriela M.; Seitz; Angelika; Krumbiegel; Mandy; Poli; Maria Cecilia; Kini; Usha; Efthymiou; Stephanie; Meiler; Jens; Maroofian; Reza; Alkuraya; Fowzan S.; Abou Jamra; Rami; Popp; Bernt; Ben-Zeev; Bruria; Ebrahimi-Fakhari; Darius Año: 2021 Link: https://doi.org/10.1002/humu.24206
• FUNCTIONAL DYSCONNECTIVITY IN VENTRAL STRIATOCORTICAL SYSTEMS IN 22Q11.2 DELETION SYNDROME Autores: Tepper; Angeles; Cuiza; Analia; Maria Alliende; Luz; Mena; Carlos; Pablo Ramirez-Mahaluf; Juan; Iruretagoyena; Barbara; Ornstein; Claudia; Fritsch; Rosemarie; Nachar; Ruben; Gonzalez-Valderrama; Alfonso; Undurraga; Juan; Pablo Cruz; Juan; Tejos; Cristian; Fornito; Alex; Repetto; Gabriela; Crossley; Nicolas Año: 2021 Link: https://doi.org/10.1093/schbul/sbab139
• PHARMACOGENETICS IN PSYCHIATRY: PERCEIVED VALUE AND OPINIONS IN A CHILEAN SAMPLE OF PRACTITIONERS Autores: Undurraga; Juan; Borquez-Infante; Ignacio; Crossley; Nicolas A.; Prieto; Miguel L.; Repetto; Gabriela M. Año: 2021 Link: https://doi.org/10.3389/fphar.2021.657985
• BARRIERS AND CONSIDERATIONS FOR DIAGNOSING RARE DISEASES IN INDIGENOUS POPULATIONS. Autores: DAngelo CS; Hermes A; McMaster CR; Prichep E; Richer E; Van Der Westhuizen F; Repetto GM; Gong M; Malherbe H; Reichardt J; Arbour L; Hudson M; du Plessis K; Haendel MA; Wilcox PL; Lynch SA; Rind S; Easteal S; Estivill X; Thomas Y; Baynam G Año: 2020 Link: https://doi.org/doi: 10.3389/fped.2020.579924
• COMPLETE SEQUENCE OF THE 22Q11.2 ALLELE IN 1053 SUBJECTS WITH 22Q11.2 DELETION SYNDROME REVEALS MODIFIERS OF CONOTRUNCAL HEART DEFECTS Autores: Zhao; Yingjie; Diacou; Alexander; Johnston; H. Richard; Musfee; Fadi I.; McDonald-McGinn; Donna M.; McGinn; Daniel; Crowley; T. Blaine; Repetto; Gabriela M.; Swillen; Ann; Breckpot; Jeroen; Vermeesch; Joris R.; Kates; Wendy R.; Digilio; M. Cristina; Unolt; Marta; Marino; Bruno; Pontillo; Maria; Armando; Marco; Di Fabio; Fabio; Vicari; Stefano; van den Bree; Marianne; Moss; Hayley; Owen; Michael J.; Murphy; Kieran C.; Murphy; Clodagh M.; Murphy; Declan; Schoch; Kelly; Shashi; Vandana; Tassone; Flora; Simon; Tony J.; Shprintzen; Robert J.; Campbell; Linda; Philip; Nicole; Heine-Suner; Damian; Garcia-Minaur; Sixto; Fernandez; Luis; Bearden; Carrie E.; Vingerhoets; Claudia; van Amelsvoort; Therese; Eliez; Stephan; Schneider; Maude; Vorstman; Jacob A. S.; Gothelf; Doron; Zackai; Elaine; Agopian; A. J.; Gur; Raquel E.; Bassett; Anne S.; Emanuel; Beverly S.; Goldmuntz; Elizabeth; Mitchell; Laura E.; Wang; Tao; Morrow; Bernice E.; Int 22q11 2 Brain Behav Consortium Año: 2020 Link: https://doi.org/10.1016/j.ajhg.2019.11.010
• HUMAN GENETICS AND GENOMICS MEETINGS GOING VIRTUAL: PRACTICAL LESSONS LEARNED FROM TWO INTERNATIONAL MEETINGS IN EARLY 2020 Autores: Forrest ARR; Repetto GM; Reichardt JKV Año: 2020 Link: doi: 10.1186/s40246-020-00275-3
• NO ASSOCIATION BETWEEN GENETIC VARIANTS IN MAOA OXTR AND AVPR1A AND COOPERATIVE STRATEGIES Autores: Rivera-Hechem; María I.; Rodríguez-Sickert; Carlos; Guzmán; Ricardo A.; Ramírez-Parada; Tadeo; Benavides; Felipe; Landaeta-Torres; Víctor; Aspé-Sánchez; Mauricio; Repetto; Gabriela M.; Capraro; Valerio Año: 2020 Link: https://doi.org/10.1371/journal.pone.0244189
• USING COMMON GENETIC VARIATION TO EXAMINE PHENOTYPIC EXPRESSION AND RISK PREDICTION IN 22Q11.2 DELETION SYNDROME Autores: Davies; Robert W.; Fiksinski; Ania M.; Breetvelt; Elemi J.; Williams; Nigel M.; Hooper; Stephen R.; Monfeuga; Thomas; Bassett; Anne S.; Owen; Michael J.; Gur; Raquel E.; Morrow; Bernice E.; McDonald-McGinn; Donna M.; Swillen; Ann; Chow; Eva W. C.; van den Bree; Marianne; Emanuel; Beverly S.; Vermeesch; Joris R.; van Amelsvoort; Therese; Arango; Celso; Armando; Marco; Campbell; Linda E.; Cubells; Joseph F.; Eliez; Stephan; Garcia-Minaur; Sixto; Gothelf; Doron; Kates; Wendy R.; Murphy; Kieran C.; Murphy; Clodagh M.; Murphy; Declan G.; Philip; Nicole; Repetto; Gabriela M.; Shashi; Vandana; Simon; Tony J.; Suner; Damian Heine; Vicari; Stefano; Scherer; Stephen W.; Bearden; Carrie E.; Vorstman; Jacob A. S.; Int 22q11 2 Bran Behav Consortium Año: 2020 Link: https://doi.org/10.1038/s41591-020-1103-1
• EXOME SEQUENCING IDENTIFIES GENETIC VARIANTS ASSOCIATED WITH EXTREME MANIFESTATIONS OF THE CARDIOVASCULAR PHENOTYPE IN MARFAN SYNDROME Autores: Yanireth Jimenez;Cesar Paulsen;Eduardo Turner;Sebastian Iturra;Oscar Cuevas;Guillermo Lay-son;Gabriela M. Repetto;Marcelo Rojas;Juan F. Calderon; Año: 2022 Link: https://doi.org/10.3390/genes13061027
• CONTRIBUTION OF MITOCHONDRIAL DNA HETEROPLASMY TO THE CONGENITAL CARDIAC AND PALATAL PHENOTYPIC VARIABILITY IN MATERNALLY TRANSMITTED 22Q11.2 DELETION SYNDROME Autores: Boris Rebolledo-Jaramillo;Maria Gabriela Obregon;Victoria Huckstadt;Abel Gomez;Gabriela M. Repetto; Año: 2021 Link: https://doi.org/10.3390/genes12010092
• MAPPING SUBCORTICAL BRAIN ALTERATIONS IN 22Q11.2 DELETION SYNDROME: EFFECTS OF DELETION SIZE AND CONVERGENCE WITH IDIOPATHIC NEUROPSYCHIATRIC ILLNESS Año: 2020 Link: https://doi.org/10.1176/appi.ajp.2019.19060583
• GENETIC CONTRIBUTORS TO RISK OF SCHIZOPHRENIA IN THE PRESENCE OF A 22Q11.2 DELETION Año: 2020 Link: https://doi.org/10.1038/s41380-020-0654-3
• GATHERING THE STAKEHOLDERS PERSPECTIVE: EXPERIENCES AND OPPORTUNITIES IN RARE GENETIC DISEASE RESEARCH Autores: Lauren K. White;T. Blaine Crowley;Brenda Finucane;Emily J. McClellan;Sarah Donoghue;Sixto Garcia-Minaur;Gabriela M. Repetto;Matthias Fischer;Sebastien Jacquemont;Raquel E. Gur;Anne M. Maillard;Kirsten A. Donald;Anne S. Bassett;Ann Swillen;Donna M. McDonald-McGinn; Año: 2023 Link: https://doi.org/10.3390/genes14010169