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Maria Gabriela Repetto Lisboa

Profesora 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 (2003-2018) (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 (2003-date)

Graduate Medical Education
1. Tutor, Genetics Rotation for Pediatrics Residents, Universidad del Desarrollo
2. Tutor, Genetics Rotation for Genetics Residents, Universidad de Chile (2006.2018)

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

Difusión al medio de trabajo de investigacipn
Pagina web www.pocofrecuentes.cl
Instagram @pocofrecuentes

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
Miembro de Número

ACADEMIA CHILENA DE MEDICINA

Chile, 2023

Electa Miembro de Numero


Validación del Test de Acentuación de Palabras (TAP) para estimar la inteligencia global en población chilena: Validación TAP para Estimación de Inteligencia Cuiza, A; Crossley N.A. Article Neuropsicologia Latinoamericana (2024)
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples Baynam, Gareth; Julkowska, Daria; Bowdin, Sarah; Hermes, Azure; McMaster, Christopher R.; Prichep, Elissa; Richer, Etienne; van der Westhuizen, Francois H.; Malherbe, Helen; Reichardt, Juergen K. V.; et al. Article ISI NATURE GENETICS (2024)
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile Lagos, Catalina; Moreno, Gabriela; Martin, Luz M.; Encina, Gonzalo; Zavala, M. Jesus; Hasbun, Trinidad; Fischer, Sara; Lira, Manuel; Cares, Carolina; Aracena, Mariana; et al. Article ISI EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis Brito, Florencia; Lagos, Catalina; Cubillos, Jessica; Orellana, Joan; Gajardo, Mallen; Boehme, Daniela; Encina, Gonzalo; Repetto, Gabriela M Article ISI FRONTIERS IN GENETICS (2024)
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function Alpaslan, Murat; Fastre, Elodie; Mestre, Sandrine; van Haeringen, Arie; Keymolen, Kathelijn; Boon, Laurence M.; Belva, Florence; Giacalone, Guido; Revencu, Nicole; Sznajer, Yves; et al. Article ISI HUMAN MOLECULAR GENETICS (2024)
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age Freud, Lindsay R.; Galloway, Stephanie; Crowley, Blaine; Moldenhauer, Julie; Borrell, Antoni; Vora, Neeta L.; Cuneo, Bettina; Hoffman, Hilary; Gilbert, Lisa; Nowakowska, Beata; et al. Article ISI AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2024)
Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study Supekar, Kaustubh; de los Angeles, Carlo; Ryali, Srikanth; Schleifer, Charlie; Repetto, Gabriela; Crossley, Nicolas A.; Simon, Tony; Menon, Vinod Article ISI MOLECULAR PSYCHIATRY (2024)
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome Ge, Ruiyang; Craig, Michael; Crossley, Nicolas A.; Doherty, Joanne L.; McDonald-McGinn, Donna; Villalon-Reina, Julio E.; Schuite-Koops, Sanne; Angkustsiri, Kathleen Article ISI HUMAN BRAIN MAPPING (2024)
The WHO genomics program of work for equitable implementation of human genomics for global health Abou Tayoun, Ahmad; Abramowicz, Marc; Bin Alwi, Zilfalil; Boughtwoodm Tiffany; Hamdi, Yosr; Hubbard, Tim; Lopes-Cendes, Iscia; Majumder, Partha Pratim; Ndiaye, Rokhaya; Ramsay, Michèle; et al. Article NATURE MEDICINE (2024)
<i>PUF60</i>-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic <i>PUF60</i> variants Grimes, H.; Ansari, M.; Ashraf, T.; Calder, A.; Day, M.; Fernandez Alvarez, P.; Lahiri, N.; Repetto, G. M.; Scurr, I.; Low, Karen J. Article ISI AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2023)
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance Vergara-Gomez, Luis; Zhong, Jun; Ili, Carmen; Espinoza, Karena; Repetto, Gabriela; Leal, Pamela Article ISI INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS Wang, Yujue; Shi, Lijie; Tran, Oanh T.; Miller, Daniella; van den Bree, Marianne B. M.; Zhang, Zhengdong D.; Zheng, Deyou; Marshall, Christian R.; Int 22q11 2 Brain Behav Consortium Article ISI NPJ GENOMIC MEDICINE (2023)
Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research White, Lauren K.; Finucane, Brenda; McClellan, Emily J.; Fischer, Matthias; Maillard, Anne M.; Donald, Kirsten A. Article ISI genes (2023)
A normative chart for cognitive development in a genetically selected population Zinkstok, Janneke R.; Tempelaar, Wanda; Emanue, Beverly; Morrow, Bernice; Gur, Raquel; Chow, Eva; Vermeesch, Joris; Warren, Stephen; Owen, Michael; van Amelsvoor, Therese; et al. Article ISI NEUROPSYCHOPHARMACOLOGY (2022)
Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study Diaz, Mario; Cordova, Teresa; Villanueva, Katiuska; Caceres, Tania; Bassi, Alejandro; Fritsch, Rosemarie; Repetto, Gabriela M Article ISI SLEEP (2022)
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome Jimenez, Yanireth; Repetto, Gabriela M; Calderon, Juan F. Article ISI genes (2022)
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis Cardenas, Geovanna V.; Venegas-Salas, Luis F.; Fraga, Juan P.; Repetto, Gabriela M Article ISI INTERNATIONAL JOURNAL OF DERMATOLOGY (2022)
Tendencia de la mortalidad por fibrosis quística en Chile, 1997-2017 Huerta, P.; Cristi, J; Neira, PP Article Revista Chilena de Salud Publica (2022)
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers White, L. K.; Crowley, T. B.; Finucane, B.; Jacquemont, S.; Maillard, A. M.; Donald, K. A. Article ISI JOURNAL OF INTELLECTUAL DISABILITY RESEARCH (2022)
Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome Pelgrim, Teuntje A. D.; Bossong, Matthijs G.; Cuiza, Analia; Mena, Carlos; Fritsch, Rosemarie; Tejos, Cristian; Repetto, Gabriela; Crossley, Nicolas Article ISI SCIENTIFIC REPORTS (2021)
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; Dincer, Yasemin; Mall, Volker; et al. 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 Repetto, Gabriela M Article ISI Scopus genes (2021)
Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome Cuiza, Analia; Mena, Carlos; Fritsch, Rosemarie; Undurraga, 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)
Using Online Mendelian Inheritance in Man in low‐and middle‐income countries Sobreira NL,; Temtamy, SA; Alvarez Perez, AB Article AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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 Musfee, Fadi I.; McGinn, Daniel; Repetto, Gabriela M; Digilio, M. Cristina; Di Fabio, Fabio; Murphy, Declan; Shprintzen, Robert J.; Campbell, Linda; Heine-Suner, Damian; Fernandez, Luis; et al. 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; Morrow, Bernice E.; Swillen, Ann; Vorstman, Jacob A. S.; et al. 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, Christopher R. K.; Reina, Julio Villalon; Crossley, Nicolas A.; Repetto, Gabriela M Article ISI AMERICAN JOURNAL OF PSYCHIATRY (2020)
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies Rivera-Hechem, María I.; Ramírez-Parada, Tadeo; Benavides, Felipe; Landaeta-Torres, Víctor; 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.; Repetto, Gabriela M; Suner, Damian Heine; 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.; Grazielle Ribeiro E.; Elena Llop R.; Gabriela M. Repetto L.; M. Luisa Rioseco Z.; Gregory Mertz; Pablo A. Vial C. Article SCIELO SCOPUS Revista chilena de infectologï¿½a (2019)
Rare diseases in Chile: challenges and recommendations in universal health coverage context Encina, Gonzalo; Castillo-Laborde, Carla.; Calderon, Juan F.; 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 PEDIATRIA (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; 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 Hartwig, Connie; Freeman, AAH; Bassell, JL; Zlatic, SA; Sap Savas , C; Vladamudi, T; Abudalai, F; Phamm, TT; Crocker A.; Wen, Z; et al. Article ISI SCOPUS JOURNAL OF NEUROSCIENCE (2019)
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2 Diacou, A; Nomaru, H; Hestand, M; Demaerel, W; Zhang, LT; Zhao, YJ; Ujueta, F; Shan, JD; Montagna, C; Zheng, DY; et al. 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; et al. 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 Repetto GM,; McGinn, DMM; Campbell, CL; Blonska, A; Bassett, AS; Chow, EWC; Mlynarski, EE; Devriendt K.; Carmel, M; Michaelovsky, E; et al. Article ISI SCOPUS Circulation: Cardiovascular Genetics (2017)
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease Pondal M.; Rusjan P.; Christopher L.; Strafella A.P. 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 Article ISI SCOPUS SCIENTIFIC REPORTS (2017)
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome Lowther, C; Merico, D; McDonald-McGinn, D; Gur, RE; Van den Bree, M; Bearden, CE; Kates, W; Sashi, V; Vorstman, J; Heung, T; et al. 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.; Rios G.; Rodriguez, L; Quesada S.; Lucero, Y; et al. 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; Luthy, K; Finelli, MJ; Verstreken, P; Cardon, A; Strazisar, BG; Holder, JL; Lesca, G; Mancardi, MM; et al. 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 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 Puga, A; Repetto, G Article PUBMED Rev.Chil.Pediatr (2014)
The genetic basis of DOORS syndrome: an exome-sequencing study Kasperaviciute, D; KIM C.; Hori M.; Stewart F.; Van den Ende J.; Wisniewska, M; Kayserili, H; Rump, P; Nampoothiri S.; Aftimos, S; et al. 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.; Palisson F.; 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 Alshammari M.; Al-Sheddi T.; Alkhalidi H.; Kentab A.; Repetto, G. M.; Hashem M. Article ISI SCOPUS Journal of Medical Genetics (2012)
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome 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; 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 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; Repetto, G. M.; Carrero-Valenzuela, R; Pintos De Pons S.; Bazan De Casella C.; 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 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)


Nistagmo secundario a albinismo con compromiso ocular en paciente femenina: Un desafío diagnóstico Joanna Britzmann L.; Mario Zanolli S.; Jovanka Pavlov N.; Trinidad Hasbun Z.; Gabriela Repetto L. CaseReport SCIELO REVISTA CHILENA DE PEDIATRIA (2020)
Variante patogénica en el gen PCDH19 en una paciente con epilepsia y discapacidad cognitiva Viviana Venegas Silva; Elisa García Venegas; M. Gabriela Repetto Lisboa; Eva Barroso Ramos; Pablo Lapunzina Badia CaseReport SCIELO REVISTA CHILENA DE PEDIATRIA (2020)


Consenso chileno para la atención integral de ni?os y adultos con fibrosis quística Salesa Barja Y.; Ethel Codner D.; Patricio Gomolan G.; Hortensia Barrientos I.; Rodrigo Bozzo H.; Mauricio Calderón R.; Jeanette Cáceres V.; Ilse Contreras E.; Leticia Jakubson S.; Beatriz Jara H.; et al. ComunicacionBreve SCIELO Revista chilena de enfermedades respiratorias (2020)


“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)
Development of novel imaging techniques to study the brain in severe mental health disorders. Tejos, Cristian Proyecto (2019)
Advancing discoveries on Rare Disorders through International Collaboration Repetto, Gabriela Proyecto (2018)
Decoding Complex Inherited Phenotypes in Rare Diseases (DECIPHERD) Repetto, Maria Gabriela 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)


Challenges for gene therapy in the financial sustainability of health systems: a scoping review Ossandon, Hugo; Vargas, Constanza; Repetto, Gabriela M Review ISI ORPHANET JOURNAL OF RARE DISEASES (2024)
Discovery of novel genetic syndromes in Latin America: Opportunities and challenges Repetto, Gabriela M Review ISI GENETICS AND MOLECULAR BIOLOGY (2024)
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome Andrade, Danielle M.; Cserti-Gazdewich, Christine; Lang, Anthony E.; Oechslin, Erwin; Palmer, Lisa; Reyes, Nikolai Gil D.; Silversides, Candice Review ISI GENETICS IN MEDICINE (2023)
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome Crowley, Terrence Blaine; Loo, Joanne C. Y.; Arganbright, Jill M.; Baylis, Adriane L.; Castelein, Rene M.; Chadehumbe, Madeline; Cielo, Christopher M.; de Reuver, Steven; Forbes, Brian J.; Gallagher, Emily; et al. Review ISI GENETICS IN MEDICINE (2023)
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

Profesora 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

Orozimba Delgado

Profesor Asociado

Facultad de Medicina Clinica Alemana Universidad del Desarrollo

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Rosemarie Fritsch

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

Pablo Cruces

MEDICO RESIDENTE

PEDIATRIA

HOSPITAL EL CARMEN DE MAIPU

SANTIAGO, Chile

Franco Diaz

Residente

Pediatría

Hospital El Carmen de Maipú

Santiago, Chile

Maria Vial

Associate Professor/Profesor Asociado

Instituto de Ciencias e Innovación de Medicina

UNIVERSIDAD DEL DESARROLLO

Santiago, Chile

Arturo Borzutzky

Chief; Associate Professor

Department of Pediatric Infectious Diseases and Immunology

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Carmen Ili

Academico Asociado

Scientific and technological Bioresource Nucleus (BIOREN)

UNIVERSIDAD DE LA FRONTERA

Temuco, Chile

Gonzalo Encina

Investigador

Instituto de Ciencias e Innovación en Medicina

Universidad del Desarrollo

Santiago, Chile

Francisco Valenzuela

Academico

Ciencias Básicas

UNIVERSIDAD DEL BÍO BÍO

Chillan, Chile

Teresa Aravena

Profesor asistente

Medicina

UNIVERSIDAD DE CHILE

santiago, Chile

Cristian Carvajal

Associate Professor

Endocrinologia

PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE

Santiago, Chile

Luisa Schonhaut

Medico Pediatra

Profesor Asociado

Salud Pública

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

Carolina Bizama

Assistant professor

Department of Pathology

PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE

Santiago, Chile

Leonardo Valdivia

Profesor asociado

Centro de Biologia Integrativa

Universidad Mayor

Santiago, Chile

Luis Venegas

Bioquímico/investigador

Associate professor

Institute of Science and Innovation in Medicine

Universidad del Desarrollo

Santiago, Chile

Victor Faundes

Assistant Profesor

Laboratorio de Genetica y Enfermedades Metabolicas

Universidad de Chile, INTA

Santiago, Chile

Marta Arriaza

Medico staff

Pediatría

Hospital Dr. Gustavo Fricke

Viña del Mar, Chile

Macarena Tejos

Trainee (PhD Student)

Pontificia Universidad Católica de Chile

Santiago, Chile

Grazielle Ribeiro

PhD candidate

Medicina

Universidad del Desarrollo- UDD

Santiago, Chile

carolina iturriaga

Sub Directora Laboratorio de inmunología y Alergia Traslacional UC

Pediatria

Pontificia Universidad Católica de Chile

santiago, Chile

César Paulsen

Cirujano Staff

Cirugia Cardiaca

Instituto Nacional Del Torax

Santiago, Chile

Karena Espinoza

Directora

Centro Asistencial Docente e Investigación

Universidad de Magallanes

Punta Arenas, Chile

Javiera Obreque

Investigadora Postdoctoral

CECAN - PUC

Santiago, Chile

Jorge Mauro

Coordinador Simulación

Facultad De Salud

Universidad Diego Portales

Santiago, Chile

Jan Wilhelm

Medico interconsultor

Pediatria

Hospital Luis Calvo Mackenna

Santiago, Chile

Florencia Brito

Residente de Ginecología y Obstétricia

Ginecología y Obstetricia

Universidad de Valparaíso

Viña del Mar, Chile

Fernando Rodríguez

Profesor Asociado

Instituto de Investigaciones Materno Infantil

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

Difusión y Transferencia

Premios y Distinciones

100 Mujeres Lideres

Docente de Excelencia

Docente de Excelencia

Best published article in 2019 General Category

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Article (72)

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CaseReport (2)

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Proyecto (10)

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 (5)