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Author Details

Gabriela M Repetto
Clinica Alemana Universidad del Desarrollo
1964
86
22
PMIDPaper TitleJournal TitlePublished Year
37717890Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.Am J Obstet Gynecol2024
36729052Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.Genet Med2023
37108401A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance.Int J Mol Sci2023
37303278PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.Am J Med Genet A2023
36672911Gathering the Stakeholder's Perspective: Experiences and Opportunities in Rare Genetic Disease Research.Genes (Basel)2023
36729053Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.Genet Med2023
34480753Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis.Int J Dermatol2022
35741789Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.Genes (Basel)2022
33782512A normative chart for cognitive development in a genetically selected population.Neuropsychopharmacology2022
33615640Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.Hum Brain Mapp2022
35191118The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.J Intellect Disabil Res2022
34931688Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.Schizophr Bull2022
34962269Analysis of REM sleep without atonia in 22q11.2 deletion syndrome determined by domiciliary polysomnography: a cross sectional study.Sleep2022
33450921Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome.Genes (Basel)2021
33847017Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.Hum Mutat2021
34732759Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome.Sci Rep2021
34492150Using Online Mendelian Inheritance in Man in low- and middle-income countries.Am J Med Genet A2021
33935777Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners.Front Pharmacol2021
32015465Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.Mol Psychiatry2021
32641116Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020.Hum Genomics2020
31870554Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.Am J Hum Genet2020
33399735[Nystagmus secondary to albinism with ocular involvement in a female: A diagnostic challenge].Rev Chil Pediatr2020
33362272No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies.PLoS One2020
33381478Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.Front Pediatr2020
30833507Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.J Neurosci2019
31931841Rare diseases in Chile: challenges and recommendations in universal health coverage context.Orphanet J Rare Dis2019
31687262Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith-Wiedemann Syndrome.J Pediatr Genet2019
31399107Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.Orphanet J Rare Dis2019
29361080Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.Hum Mol Genet2018
29854386Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial.Ther Adv Endocrinol Metab2018
27480391Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance.Br J Dermatol2017
28496102Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.Sci Rep2017
28369257Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease.Brain2017
29025761Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Circ Cardiovasc Genet2017
28750581Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.Am J Psychiatry2017
27021801Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.Arch Soc Esp Oftalmol2016
27815188Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.J AAPOS2016
27281533TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Neurology2016
27401393[Not Available].Rev Med Chil2016
27035380Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test.J Pediatr Gastroenterol Nutr2016
25569435Practical guidelines for managing adults with 22q11.2 deletion syndrome.Genet Med2015
26273595Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency.Biomed Res Int2015
26290872Cleft Palate, Interdisciplinary Diagnosis, and Treatment.Biomed Res Int2015
25778948Genetic structure characterization of Chileans reflects historical immigration patterns.Nat Commun2015
25458876Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.J Pediatr (Rio J)2015
24291220The genetic basis of DOORS syndrome: an exome-sequencing study.Lancet Neurol2014
25697318[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].Rev Chil Pediatr2014
25377008Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.BMJ Open2014
22175024Pathogenesis of preeclampsia: the genetic component.J Pregnancy2012
23354630[Comparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance].Rev Med Chil2012
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Institute of Medical Science, University of Toronto
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Co-authored papers 7
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Co-authored papers 6
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Co-authored papers 4
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Co-authored papers 3
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Co-authored papers 3
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Co-authored papers 3
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Emory University School of Medicine
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Australian Institute of Tropical Health and Medicine, James Cook University
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Istanbul University
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Ani Orchanian-Cheff
University Health Network
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Siddharth Banka
University of Manchester
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Asta K H??berg
Norwegian Institute of Public Health
Co-authored papers 1
James E Schmitt
Hospital of the University of Pennsylvania
Co-authored papers 1
Ole A Andreassen
Oslo University Hospital & Institute of Clinical Medicine, University of Oslo
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Jouke-Jan Hottenga
Co-authored papers 1
Susana Eyheramendy
Universidad Adolfo Ibanez
Co-authored papers 1
Azure Hermes
National Centre for Indigenous Genomics, Australian National University
Co-authored papers 1
Maui Hudson
Te Kotahi Research Institute, University of Waikato
Co-authored papers 1
Carlos Prieto
Hospital Rey Juan Carlos
Co-authored papers 1
Susan Schelley
Stanford University
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Christopher R McMaster
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Release 1.2