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Maria Gabriela Repetto Lisboa

Profesor Titular

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Genetics and genomics of human diseases; Rare Diseases; chromosomal and monogenic disorders; congenital heart disease; cognitive disabilites; 22q11.2 microdeletion syndrome (velocardiofacial syndrome); cystic fibrosis; psychiatric disease

Medical Doctor (MD), PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1991
Residency in Pediatrics, UNIVERSITY OF WISCONSIN-MADISON. Estados Unidos, 1995
Fellowship in Genetics, Children´s Hospital- Boston. Estados Unidos, 1997

Assistant Professor Full Time

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Medicine

Santiago, Chile

1998 - 2002
Associate Professor Full Time

UNIVERSIDAD DEL DESARROLLO

Medicine

Santiago, Chile

2003 - 2009
Full Professor Full Time

Clinica Alemana-Universidad del Desarrollo

Medicina

Santiago, Chile

2009 - A la fecha

Assistant Professor; Dept of Pediatrics Full Time

P. Universidad Catolica de Chile

Santiago, Chile

1998 - 2003
Director, Center for Genetics and Genomics Full Time

Universidad del Desarrollo

Santiago, Chile

2003 - 2018
Clinical Geneticist Part Time

Hospital Padre Hurtado

Santiago, Chile

2003 - 2017
Profesor Titular Full Time

Universidad del Desarrollo

Santiago, Chile

2003 - A la fecha
Clinical Geneticist Part Time

Clinica Alemana

Santiago, Chile

2003 - A la fecha
Director, Rare and Unknown Diseases Program Full Time

Universidad del Desarrollo

Santiago, Chile

2018 - A la fecha

At Facultad de Medicina, Clinica Alemana Universidad del Desarrollo

Undergraduate Medical Education
1. Director of Human Genetics Course, Medicine, 4th semester (2003-date) (20 weeks/year)
2. Co tutor, Genetics rotation during Pediatrics Internship, 11-12th semester
3. Co tutor, elective research projects for Medical Students. 3 students /year

Graduate Medical Education
1. Tutor, Genetics Rotation for Pediatric and Genetics Residents

Graduate Program, PhD in Medical Sciences
1. Participant/Lecturer in Human Genetics Course

100 Mujeres Lideres

DIARIO EL MERCURIO

Chile, 2011

Outstanding work in professional/academic fields
Docente de Excelencia

UNIVERSIDAD DEL DESARROLLO

Chile, 2010

Teaching Award to distinguished faculty
Docente de Excelencia

UNIVERSIDAD DEL DESARROLLO

Chile, 2012

Teaching award to distinguished faculty
Best published article in 2019 General Category

Sociedad de Pediatria de Chile

Chile, 2020

Premio mejores trabajos publicados en Revista Chilena de Pediatría (RChP), categoría GENERAL "Síndrome de Rett: análisis molecular del gen MECP2 en pacientes chilenas" de Aron C et al


Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis 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 Article ISI INTERNATIONAL JOURNAL OF DERMATOLOGY (2022)
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, 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 Article ISI HUMAN MUTATION (2021)
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome Rebolledo-Jaramillo, Boris; Obregon, Maria Gabriela; Huckstadt, Victoria; Gomez, Abel; Repetto, Gabriela M. Article ISI Scopus GENES (2021)
Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome 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 Article ISI SCHIZOPHRENIA BULLETIN (2021)
Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners Undurraga, Juan; Borquez-Infante, Ignacio; Crossley, Nicolas A.; Prieto, Miguel L.; Repetto, Gabriela M. Article ISI FRONTIERS IN PHARMACOLOGY (2021)
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations. D'Angelo 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 Article ISI WOS Frontiers in Pediatrics (2020)
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects 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 Article ISI SCOPUS AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S.; Heung, Tracy; Holleman, Aaron M.; Johnston, H. Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M.; Gur, Raquel E.; Morrow, Bernice E.; Swillen, Ann; Vorstman, Jacob A. S.; Bearden, Carrie E.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Warren, Stephen T.; Owen, Michael J.; Chopra, Pankaj; Cutler, David J.; Duncan, Richard; Kotlar, Alex V.; Mulle, Jennifer G.; Voss, Anna J.; Zwick, Michael E.; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I.; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T. R.; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J.; Costain, Gregory A.; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A. M. J.; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T. Blaine; McGinn, Daniel E.; Moss, Edward M.; Sharkus, Robert J.; Unolt, Marta; Zackai, Elaine H.; Calkins, Monica E.; Gallagher, Robert S.; Gur, Ruben C.; Tang, Sunny X.; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M.; Breetvelt, Elemi; Duijff, Sasja N.; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C.; Prasad, Sarah E.; Daly, Eileen M.; Gudbrandsen, Maria; Murphy, Clodagh M.; Murphy, Declan G.; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C.; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F.; Ousley, Opal Y.; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M.; Fremont, Wanda; Kates, Wendy R.; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E.; McCabe, Kathryn L.; Hooper, Stephen R.; Schoch, Kelly; Shashi, Vandana; Simon, Tony J.; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H.; Raventos-Simic, Jasna; Epstein, Michael P.; Williams, Nigel M.; Bassett, Anne S. Article SCOPUS MOLECULAR PSYCHIATRY (2020)
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020 Forrest ARR, Repetto GM, Reichardt JKV Article WOS, ISI Human Genomics (2020)
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness Ching CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort T, Antshel KM, Fremont W, Kates WR, Campbell LE, McC Article ISI Scopus Am J Psychiatry. 2020 (2020)
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies 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 Article PLOS ONE (2020)
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome 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 Article ISI NATURE MEDICINE (2020)
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis Fernanda Rozas, M.; Benavides, Felipe; Leon, Luis; Repetto, Gabriela M. Article ISI SCOPUS ORPHANET JOURNAL OF RARE DISEASES (2019)
Factores de riesgo socio-demográficos del síndrome cardiopulmonar por hantavirus Cecilia Vial C.; Francisca Valdivieso R.; Analía Cuiza V.; Iris Delgado B.; Grazielle Ribeiro E.; Elena Llop R.; Marcela Ferrés G.; Gabriela M. Repetto L.; Raúl Riquelme O.; M. Luisa Rioseco Z.; Mario Calvo A.; Gregory Mertz; Pablo A. Vial C. Article SCIELO SCOPUS REVISTA CHILENA DE INFECTOLOGIA (2019)
Rare diseases in Chile: challenges and recommendations in universal health coverage context Encina, Gonzalo; Castillo-Laborde, Carla.; Lecaros, Juan A.; Dubois-Camacho, Karen; Calderon, Juan F.; Aguilera, Ximena; Klein, Andres D.; Repetto, Gabriela M. Article ISI SCOPUS ORPHANET JOURNAL OF RARE DISEASES (2019)
Rett Syndrome: MECP2 gene molecular analysis in Chilean patients Aron W, Carolina; Rauch L, Geraldinne; Benavides G, Felipe; Repetto L, M. Gabriela Article WOS-ESCI SCOPUS Revista chilena de pediatría (2019)
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome Urzua, Abraham; Burattini, Sofia; Pinochet, Constanza; Benavides, Felipe; Repetto, Gabriela M. Article WOS-ESCI JOURNAL OF PEDIATRIC GENETICS (2019)
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior Gokhlale, Avanti; Hartwig, Connie; Freeman, AAH; Bassell, JL; Zlatic, SA; Sap Savas , C; Vladamudi, T; Abudalai, F; Phamm, TT; Crocker A.; Werner, E; Wen, Z; Repetto, GM; Faundez, V Article ISI SCOPUS JOURNAL OF NEUROSCIENCE (2019)
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Guo, TW; Diacou, A; Nomaru, H; McDonald-McGinn, DM; Hestand, M; Demaerel, W; Zhang, LT; Zhao, YJ; Ujueta, F; Shan, JD; Montagna, C; Zheng, DY; Crowley, TB; Kushan-Wells, L; Bearden, CE; Kates, WR; Gothelf, D; Schneider, M; Eliez, S; Breckpot, J; Swillen, A; Vorstman, J; Zackai E.; Gonzalez, FB; Repetto, GM; Emanuel, BS; Bassett, AS; Vermeesch, JR; Marshall, CR; Morrow, BE Article ISI SCOPUS HUMAN MOLECULAR GENETICS (2018)
Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial Timpel, P; Cesena, FHY; Costa, CD; Soldatelli, MD; Gois, E; Castrillon, E; Diaz, LJJ; Repetto, GM; Hagos, F; Yermenos, REC; Pacheco-Barrios, K; Musallam, W; Braid, Z; Khidir, N; Guardado, MR; Roepke, RML Article ISI SCOPUS THERAPEUTIC ADVANCES IN ENDOCRINOLOGY AND METABOLISM (2018)
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the &ITGPR98&IT Locus on 5q14.3 Guo, TW; Repetto, GM; McGinn, DMM; Chung, JH; Nomaru, H; Campbell, CL; Blonska, A; Bassett, AS; Chow, EWC; Mlynarski, EE; Swillen, A; Vermeesch, J; Devriendt K.; Gothelf, D; Carmel, M; Michaelovsky, E; Schneider, M; Eliez, S; Antonarakis, SE; Coleman, K; Tomita-Mitchell, A; Mitchell, ME; Digilio, MC; Dallapiccola, B; Marino, B; Philip, N; Busa, T; Kushan-Wells, L; Bearden, CE; Piotrowicz, M; Hawula, W; Roberts, AE; Tassone F.; Simon, TJ; van Duin, EDA; van Amelsvoort, TA; Kates, WR; Zackai, E; Johnston, HR; Cutler, DJ; Agopian, AJ; Goldmuntz, E; Mitchell, LE; Wang, T; Emanuel, BS; Morrow, BE Article ISI SCOPUS Circulation: Cardiovascular Genetics (2017)
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease Butcher N.J.; Marras C.; Pondal M.; Rusjan P.; Boot E.; Christopher L.; Repetto G.M.; Fritsch R.; Chow E.W.C.; Masellis M.; Strafella A.P.; Lang A.E.; Bassett A.S. Article ISI SCOPUS BRAIN (2017)
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients León L.E.; Benavides F.; Espinoza K.; Vial C.; Alvarez P.; Palomares M.; Lay-Son G.; Miranda M.; Repetto G.M. Article ISI SCOPUS SCIENTIFIC REPORTS (2017)
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome Bassett, AS; Lowther, C; Merico, D; Costain, G; Chow, EWC; van Amelsvoort, T; McDonald-McGinn, D; Gur, RE; Swillen, A; Van den Bree, M; Murphy, K; Gothelf, D; Bearden, CE; Eliez, S; Kates, W; Philip, N; Sashi, V; Campbell, L; Vorstman, J; Cubells, J; Repetto, GM; Simon, T; Boot, E; Heung, T; Evers, R; Vingerhoets, C; van Duin, E; Zackai, E; Vergaelen, E; Devriendt, K; Vermeesch, JR; Owen, M; Murphy, C; Michaelovosky, E; Kushan, L; Schneider, M; Fremont, W; Busa, T; Hooper, S; McCabe, K; Duijff, S; Isaev, K; Pellecchia, G; Wei, J; Gazzellone, MJ; Scherer, SW; Emanuel, BS; Guo, TW; Morrow, BE; Marshall, CR Article ISI AMERICAN JOURNAL OF PSYCHIATRY (2017)
Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test Alliende F.; Vial, C; Espinoza, K; Schnettle D.; Romero, V; Miquel I.; Arancibia M.E.; Rios G.; Rodríguez L.; Quesada S.; Lucero, Y; Repetto G.M. Article ISI SCOPUS JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2016)
Molecular diagnosis in patients with retinoblastoma: Report of a series of cases. Ossandón, D; Zanolli, M; López, J P; Benavides, F; Pérez, V; Repetto, G M Article Archivos de la Sociedad Espanola de Oftalmologia (2016)
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features Balestrini, S; Milh, M; Castiglioni, C; Luthy, K; Finelli, MJ; Verstreken, P; Cardon, A; Strazisar, BG; Holder, JL; Lesca, G; Mancardi, MM; Poulat, AL; Repetto, GM; Banka, S; Bilo, L; Birkeland, LE; Bosch, F; Brockmann, K; Cross, JH; Doummar, D; Felix, TM; Giuliano, F; Hori, M; Huning, I; Kayserili, H; Kini, U; Lees, MM; Meenakshi, G; Mewasingh, L; Pagnamenta, AT; Peluso, S; Mey, A; Rice, GM; Rosenfeld, JA; Taylor, JC; Troester, MM; Stanley, CM; Ville, D; Walkiewicz, M; Falace, A; Fassio, A; Lemke, JR; Biskup, S; Tardif, J; Ajeawung, NF; Tolun, A; Corbett, M; Gecz, J; Afawi, Z; Howell, KB; Oliver, KL; Berkovic, SF; Scheffer, IE; de Falco, FA; Oliver, PL; Striano, P; Zara, F; Campeau, PM; Sisodiya, SM Article ISI SCOPUS NEUROLOGY (2016)
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies Lay-Son, G; Espinoza K.; Vial C.; Rivera JC; Guzman, ML; Repetto, GM Article Jornal de Pediatria (2015)
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency Ysunza, PA; Repetto, GM; Pamplona, MC; Calderon, JF; Shaheen, K; Chaiyasate K; Rontal M. Article BioMed Research International (formerly Journal of Biomedicine and Biotechnology) (2015)
Effect of VKORC1 and CYP2C9 variants on dosage of oral anticoagulants in Chilean individuals Benavides, F; Grossman, N; Poggi, H; Nieto, E; Bertran, A; Araos, D; Vasquez, M; Ibarra, I; Caceres, F; Espinoza, K; Lagos, M; Repetto, G Article Revista médica de Chile (2015)
Genetic structure characterization of Chileans reflects historical immigration patterns Eyheramendy, S; Martinez, FI; Manevy, F; Vial, C; Repetto GM. Article Nature Communications (2015)
Genetic structure characterization of Chileans reflects historical immigration patterns. Eyheramendy, Susana; Martinez, Felipe I; Manevy, Federico; Vial, Cecilia; Repetto, Gabriela M Article Nature communications (2015)
Practical guidelines for managing adults with 22q11.2 deletion syndrome. 8. Fung LAF, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EWC, Chung B, Cytrynbaum C, Faghfoury H, Fishman L, García-Miñaúr S, George S, Lang AE, Repetto G, A Shugar Silversides C, Swillen A, van Amelsvoort T, McDonald-McGinn D, Bassett AS. Article GENETICS IN MEDICINE (2015)
Case fatality rate and associated factors in 22q11 microdeletion syndrome patients Repetto, GM; Guzman, ML; Delgado, I; Loyola, H; Palomares, M; Lay-Son, G; Vial, C; Benavides, F; Espinoza, K; Alvarez. P. A retrospective cohort study. Article BMJ Open (2014)
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study. Repetto, Gabriela M; Guzmán, M Luisa; Delgado, Iris; Loyola, Hugo; Palomares, Mirta; Lay-Son, Guillermo; Vial, Cecilia; Benavides, Felipe; Espinoza, Karena; Alvarez, Patricia Article BMJ open (2014)
Secuenciación del gen CFTR en un grupo de pacientes chilenos con fibrosis quística Lay-Son, R; Vásquez, M.; Puga, A; Manque P.; Repetto, G Article PUBMED Rev.Chil.Pediatr (2014)
The genetic basis of DOORS syndrome: an exome-sequencing study Campeau, PM; Kasperaviciute, D; Lu, JT; Burrage, LC; KIM C.; Hori M.; Powell, BR; Stewart F.; Felix, TM; Van den Ende J.; Wisniewska, M; Kayserili, H; Rump, P; Nampoothiri S.; Aftimos, S; Mey, A; Nair, LDV; Begleiter, ML; De Bie, I; Meenakshi, G; Murray, ML; Repetto, GM; Golabi, M; Blair, E; Male, A; Giuliano F.; Kariminejad, A; Newman, WG; Bhaskar, SS; Dickerson, JE; Kerr, B.; Banka S.; Giltay, JC; Wieczorek, D; Tostevin, A; Wiszniewska, J; Cheung, SW; Hennekam, RC; Gibbs, RA; Lee, BH; Sisodiya, SM Article ISI LANCET NEUROLOGY (2014)
Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS Cruces P.; Diaz, F.; Puga, A; Erranz B.; Donoso, A.; Carvajal, C.; Wilhelm J.; Repetto G.M. Article ISI SCOPUS Intensive Care Medicine (2012)
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome Catalan J.A.; Rodriguez F. A.; Yubero M.J.; Palisson F.; Gana M.J.; Kramer S.M.; Repetto G.M. Article ISI SCOPUS International Journal of Dermatology (2012)
Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético Rollan A; Vial C; Quesada S; Espinoza K; Vasquez M; Hatton M; Puga A Article Rev Med Chile (2012)
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes Shamseldin H.E.; Alshammari M.; Al-Sheddi T.; Salih M.A.; Alkhalidi H.; Kentab A.; Repetto G.M.; Hashem M.; Alkuraya F.S. Article ISI SCOPUS Journal of Medical Genetics (2012)
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome Guzman M.L.; Delgado, I; Lay-Son, G; Willans E.; Puga, A; Repetto G.M. Article ISI SCOPUS American Journal of Medical Genetics, Part A (2012)
Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome Lay-Son, G; Palomares, M; Guzman M.L.; Vásquez M; Puga, A; Repetto G.M. Article ISI SCOPUS International Journal of Pediatric Otorhinolaryngology (2012)
Pathogenesis of preeclampsia: The genetic component Valenzuela F. J.; Perez-Sepulveda, A; Torres, M. J.; Correa P.; Repetto G.M.; Illanes, S. E. Article SCOPUS Journal of Pregnancy (2012)
Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations Lay-Son, G; Puga, A; Astudillo, P; Repetto, GM Article ISI SCOPUS Journal of Cystic Fibrosis (2011)
Genetic Defects in Human Pericentrin are Associated with Severe Insulin Resistance and Diabetes Mellitus Huang-Doran I,; Bicknell LS; Finucane D; Rocha N; the Majewski Osteodysplastic Primordial Dwarfism Study Group. Article Diabetes (2011)
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients Repetto, GM; Guzman, ML; Puga, A; Calderon JF; Astete, CP; Aracena, M; Arriaza, M; Aravena T.; Sanz P Article ISI SCOPUS CLINICAL GENETICS (2009)
Genetic Modifiers of Liver Disease in Cystic Fibrosis Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemková D, Hannah WB, Article ISI JAMA (2009)
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene Repetto, GM; Corrales, RJ; Abara, SG; Zhou, LL; Berry-Kravis, EM; Rand, CM; Weese-Mayer, DE Article ISI SCOPUS ACTA PAEDIATRICA (2009)
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results Dorfman R; Li W; Sun L; Lin F; Wang Y; Sandford A; Paré PD; McKay K; Kayserova H; Piskackova T; Macek M; Czerska K; Sands D; Tiddens H; Margarit S; Repetto G; Sontag ML; Accurso FJ; Blackman S Article Human Genetics (2009)
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study Calderon JF; Puga AR; Guzman ML; Astete CP; Arriaza M; Aracena M; Aravena T; Sanz P; Repetto GM Article Biological Research (2009)
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/ Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain [6] Pogue, R; Ehtesham, N; Cohn D.H.; Repetto G.M.; Carrero-Valenzuela, R; Pintos De Pons S.; Bazan De Casella C.; Martinez-Frias M.-L.; Heuertz, S; Corinier-Daire V. Article AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telanglectasia associated with mutations in MADH4 (SMAD4) Gallione, CJ; Repetto, GM; Legius E.; Rustgi, AK; Schelley, SL; Tejpar, S; Mitchell, G; Drouin, E; Westermann, CJJ; Marchuk, DA Article ISI SCOPUS LANCET (2004)


Rare Diseases: Genomics and Public Health Repetto, Gabriela M; Rebolledo-Jaramillo, B, BookSection (2019)
Congenital malformation syndromes Repetto, Gabriela; Elzouki AY; Harfi, HA; Nazer H; ,Stapleton FB; Oh W; Whitley RH BookSection (2012)
Genética y Perinatología Repetto G, Insunza A, Illanes S; Perez A, Donoso E BookSection (2011)
Aproximación Genética a las Enfermedades Pulmonares Repetto, G; Rodríguez JC; Undurraga A BookSection (2010)
Fibrosis Quística Repetto, G; Rodríguez JC; Undurraga A BookSection (2010)


“Solving the unsolved”: an interdisciplinary evaluation of personal, social and health system effects of the use of genomic strategies for rare undiagnosed disorders Repetto, Maria Gabriela Proyecto (2021)
Development of novel imaging techniques to study the brain in severe mental health disorders Tejos, Cristian; Irarrazaval, Pablo; Crossley, Nicolas; Repetto, Gabriela Proyecto (2019)
Advancing discoveries on Rare Disorders through International Collaboration Repetto, Gabriela; Poli, Cecilia Proyecto (2018)
Manifestaciones prodrómicas de la Enfermedad de Parkinson en un grupo de alto riesgo=> personas con síndrome de microdeleción 22q11.2 FONDEF (1171014) Proyecto 2017-2020 Inv. Responsable
A connectomic neuroimaging study of the 22q11 deletion syndrome=> a window into schizophrenia and its genetic causes FONDECYT (1160736) Proyecto 2016-2020 Coinvestigador(a)
Chromosome 22q11.2 microdeletion syndrome=> a window into understanding developmental diseases of the heart and brain. Canada-Latin America and the Caribbean Research Exchange Grants (LACREG) (NA) Proyecto 2014-2015 Inv. Principal
Anomalías congénitas y trastornos del desarrollo=> E valuación de costo-efectividad de las nuevas herramientas dia gnósticas. FONIS (SA13I20321) Proyecto 2013-2015 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) National Institutes of Health (1U01MH101723) Proyecto 2013-2017 Coinvestigador(a)


Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency Ysunza, Pablo Antonio; Repetto, Gabriela M.; Pamplona, Maria Carmen; Calderon, Juan F.; Shaheen, Kenneth; Chaiyasate, Konkgrit; Rontal, Matthew Review ISI SCOPUS BioMed Research International (2015)

Maria Repetto

Profesor Titular

Center for Genetics and Genomics

FACULTAD DE MEDICINA CLINICA ALEMANA-UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Guillermo Lay-Son

PROFESOR ASISTENTE

CENTRO DE GENÉTICA Y GENÓMICA

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Juan Calderon

Investigador

Facultad de Medicina

Universidad del Desarrollo

Santiago, Chile

Luis Leon

Head of Bioinformatics and Computational Biology

Technology

PhageLab

Santiago, Chile

Maria Vial

Associate Professor/Profesor Asociado

Instituto de Ciencias e Innovación de Medicina

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Carla Castillo

Assistant Professor

Centro de Epidemiología y Políticas de Salud / Center of Epidemiology and Health Policy

Universidad del Desarrollo

Santiago, Chile

Karena Espinoza

Directora

Centro Asistencial Docente e Investigación

Universidad de Magallanes

Punta Arenas, Chile

Maria Poli

Associate Professor

Pediatrics

Universidad del Desarrollo

Lo Barnechea, Chile

Juan Undurraga

Psychiatrist

Neurología y Psiquiatría

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

Santiago, Chile

Gonzalo Encina

Investigador

Instituto de Ciencias e Innovación en Medicina

Universidad del Desarrollo

Santiago, Chile

Luis Venegas

Bioquímico/investigador

Anatomía Patológica

Clínica Alemana de Santiago

Santiago, Chile

Macarena Tejos

Trainee (PhD Student)

Pontificia Universidad Católica de Chile

Santiago, Chile

Juan Lecaros

Associate professor

Observatory of Bioethics and Law

Universidad del Desarrollo

Santiago, Chile

KAREN DUBOIS

Postdoctoral fellow Fondef IDeA ID17I10064 IDI17

Instituto de Ciencias Biomédicas

Universidad de Chile

Santiago, Chile

Grazielle Ribeiro

PhD candidate

Medicina

Universidad del Desarrollo- UDD

Santiago, Chile

Marta Arriaza

Medico staff

Pediatría

Hospital Dr. Gustavo Fricke

Viña del Mar, Chile

Ximena Aguilera

Full Professor; Director Centro de Epidemiología y Políticas de Salud /Center of Epidemiology and Health Policy

Centro de Epidemiología y Políticas de Salud (CEPS)/ Center of Epidemiology and Health Policy/Centro de Epidemiología y Políticas de Salud (CEPS)

Universidad del Desarrollo

Santiago, Chile

ANDRES KLEIN

Assistant Professor/Director (Head) Center for Genetics and Genomics; Director, PhD Program in Sciences and Innovation in Medicine

Centro de Genética y Genómica

Universidad del Desarrollo-Clínica Alemana

SANTIAGO, Chile

Cristian Tejos

Professor

Department of Electrical Engineering

Pontificia Universidad Catolica de Chile

Santiago, Chile

carolina iturriaga

Sub Directora Laboratorio de inmunología y Alergia Traslacional UC

Pediatria

Pontificia Universidad Católica de Chile

santiago, Chile

Paola Casanello

Profesor Asociado

División de Obstetricia y Ginecología

Pontificia Universidad Católica de Chile

Santiago, Chile

Rosemarie Fritsch

UNIVERSIDAD DE CHILE

Santiago, Chile

Benjamín Erranz

Investigador-Docente

Instituto de Ciencias e Innovación en Medicina

Universidad del Desarrollo

Santiago, Chile

Susanne Kramer

Profesor Asistente

Departamento del Niño y Ortopedia Dentomaxilar

Universidad de Chile

Santiago, Chile

Yalda Lucero

Profesor Asistente

Programa de Microbiología y Micología; Departamento de Pediatría y Cirugía infantil;

DIVISIÓN NORTE, FACULTAD DE MEDICINA, UNIVERSIDAD DE CHILE, DEPARTAMENTO DE PEDIATRÍA Y CIRUGÍA INFANTIL-HOSPITAL LUIS CALVO MACKENNA

Santiago, Chile

Arturo Borzutzky

Chief; Associate Professor

Department of Pediatric Infectious Diseases and Immunology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Cesar Carvajal

Director

Centro de Informática Biomédica

Universidad del Desarrollo

Santiago, Chile

Sebastián Illanes

professor, Director of Reproductive Biology Laboratory

Medicine

UNIVERSIDAD DE LOS ANDES

Santiago, Chile

Carolina Cabalín

Investigadora

Pediatría

Pontificia Universidad Católica de Chile

Santiago, Chile

Francisco Valenzuela

Academico

Ciencias Básicas

UNIVERSIDAD DEL BÍO BÍO

Chillan, Chile

Orozimba Delgado

Profesor Asociado

Facultad de Medicina Clinica Alemana Universidad del Desarrollo

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Cristian Carvajal

Associate Professor

Endocrinologia

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Franco Diaz

Residente

Pediatría

Hospital El Carmen de Maipú

Santiago, Chile

Pablo Cruces

MEDICO RESIDENTE

PEDIATRIA

HOSPITAL EL CARMEN DE MAIPU

SANTIAGO, Chile

Jan Wilhelm

Medico interconsultor

Pediatria

Hospital Luis Calvo Mackenna

Santiago, Chile

Fernando Rodríguez

Profesor Asociado

Instituto de Investigaciones Materno Infantil

Universidad de Chile

Santiago, Chile

Teresa Aravena

Profesor asistente

Medicina

UNIVERSIDAD DE CHILE

santiago, Chile

Maria Gabriela Repetto Lisboa

Líneas de Investigación

Educación

Medical Doctor (MD), PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 1991

Residency in Pediatrics, UNIVERSITY OF WISCONSIN-MADISON. Estados Unidos, 1995

Fellowship in Genetics, Children´s Hospital- Boston. Estados Unidos, 1997

Experiencia Académica

Assistant Professor Full Time

Associate Professor Full Time

Full Professor Full Time

Experiencia Profesional

Assistant Professor; Dept of Pediatrics Full Time

Director, Center for Genetics and Genomics Full Time

Clinical Geneticist Part Time

Profesor Titular Full Time

Clinical Geneticist Part Time

Director, Rare and Unknown Diseases Program Full Time

Formación de Capital Humano

Premios y Distinciones

100 Mujeres Lideres

Docente de Excelencia

Docente de Excelencia

Best published article in 2019 General Category

Article (53)

BookSection (5)

Proyecto (8)

Manifestaciones prodrómicas de la Enfermedad de Parkinson en un grupo de alto riesgo=> personas con síndrome de microdeleción 22q11.2

A connectomic neuroimaging study of the 22q11 deletion syndrome=> a window into schizophrenia and its genetic causes

Chromosome 22q11.2 microdeletion syndrome=> a window into understanding developmental diseases of the heart and brain.

Anomalías congénitas y trastornos del desarrollo=> E valuación de costo-efectividad de las nuevas herramientas dia gnósticas.

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)

Review (1)