G. Repetto

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome
20260 citationsauthor #34
Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations
20250 citationsauthor #3
Prevalence of Parkinson's Disease in 22q11.2 Deletion Syndrome: A Multicenter Study
20252 citationsauthor #3
Genetic testing as moral technology: Navigating legitimacy, uncertainty, and access in rare disease diagnosis
20250 citationsauthor #3
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
20250 citationsauthor #82
Therapeutic trajectories of families with rare diseases in Chile from the perspectives of patients, carers, and healthcare workers: a qualitative study
20251 citationsauthor #4
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
202411 citationsauthor #9
Source‐based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome
20245 citationsauthor #35
Robust and replicable functional brain signatures of 22q11.2 deletion syndrome and associated psychosis: a deep neural network-based multi-cohort study
20242 citationsauthor #6
Discovery of novel genetic syndromes in Latin America: Opportunities and challenges
20243 citationsauthor #2
The WHO genomics program of work for equitable implementation of human genomics for global health
202413 citationsauthor #14
Challenges for gene therapy in the financial sustainability of health systems: a scoping review
20246 citationsauthor #4
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function.
20242 citationsauthor #5
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
202411 citationsauthor #25
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
202369 citationsauthor #29
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants
202313 citationsauthor #10
Gathering the Stakeholder’s Perspective: Experiences and Opportunities in Rare Genetic Disease Research
20234 citationsauthor #7
A Novel Gemcitabine-Resistant Gallbladder Cancer Model Provides Insights into Molecular Changes Occurring during Acquired Resistance
20236 citationsauthor #11
Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age.
20237 citationsauthor #28
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
202365 citationsauthor #19
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
20239 citationsauthor #25
Prodromal manifestations of Parkinson's disease in adults with 22q11.2 microdeletion syndrome
20220 citationsauthor #18
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
20223 citationsauthor #5
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease
20220 citationsauthor #24
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2
20220 citationsauthor #25
Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome
20223 citationsauthor #7
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐ associated hereditary sensory and autonomic neuropathy with intellectual disability
20211 citationsauthor #40
Analysis Of Rem Sleep Without Atonia In 22q11.2 Deletion Syndrome Determined By Domiciliary Polysomnography: A Cross Sectional Study.
20217 citationsauthor #8
Contribution of Mitochondrial DNA Heteroplasmy to the Congenital Cardiac and Palatal Phenotypic Variability in Maternally Transmitted 22q11.2 Deletion Syndrome
20212 citationsauthor #5
Functional Dysconnectivity in Ventral Striatocortical Systems in 22q11.2 Deletion Syndrome.
20211 citationsauthor #15
Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners
20217 citationsauthor #5
Prevalence of filaggrin loss‐of‐function variants in Chilean population with and without atopic dermatitis
20217 citationsauthor #12
Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs
202155 citationsauthor #74
Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries
20211 citationsauthor #2
Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics
202113 citationsauthor #51
Abnormal nodal and global network organization in resting state functional MRI from subjects with the 22q11 deletion syndrome
20211 citationsauthor #13
A normative chart for cognitive development in a genetically selected population
202122 citationsauthor #25
Rare Diseases: Genomics and Public Health
20205 citationsauthor #1
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
202044 citationsauthor #7
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
2020113 citationsauthor #30
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
2020104 citationsauthor #68
Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability
202023 citationsauthor #38
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020
20208 citationsauthor #2
Human genetics and genomics meetings going virtual: practical lessons learned from two international meetings in early 2020
20200 citationsauthor #2
No association between genetic variants in MAOA, OXTR, and AVPR1a and cooperative strategies
20201 citationsauthor #8
Contribution of mitochondrial DNA heteroplasmy to the phenotypic variability in maternally transmitted 22q11.2 deletion syndrome
20200 citationsauthor #5
Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness.
202073 citationsauthor #58
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
201931 citationsauthor #4
Sleep architecture in 22q11.2 microdeletion syndrome patients: polysomnographic study of prodromal signs of Parkinson's Disease and obstructive sleep apnea
20190 citationsauthor #8
Rare diseases in Chile: challenges and recommendations in universal health coverage context
201933 citationsauthor #8
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
201957 citationsauthor #8
Somatic Mosaicism for Paternal Uniparental Disomy of 11p15.5 Region in Adrenal and Liver Tissues in a Newborn with Atypical Beckwith–Wiedemann Syndrome
20194 citationsauthor #5
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
201825 citationsauthor #25
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior
201850 citationsauthor #13
Polarized epithelial cells release exosomes loaded with miRNAs capable of interacting with HSD11B2 and MR genes
20170 citationsauthor #12
Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent LAMB3 mutations in Chilean patients with diagnostic significance
201717 citationsauthor #3
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
201790 citationsauthor #21
Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease
201745 citationsauthor #7
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
201728 citationsauthor #9
TBC1D24 genotype–phenotype correlation
201684 citationsauthor #15
Accuracy of a Genetic Test for the Diagnosis of Hypolactasia in Chilean Children: Comparison With the Breath Test
20165 citationsauthor #12
Enfrentamiento del paciente con sospecha de enfermedad metabólica
20160 citationsauthor #3
Genome-wide association study of modifiers for tetralogy of Fallot in 22q11DS identifies variants in the GPR98 locus on 5q14.3
20160 citationsauthor #2
Bilateral retinoblastoma with one eye manifesting only posterior chamber infiltration and no retinal involvement.
20160 citationsauthor #6
Molecular diagnosis in patients with retinoblastoma: Report of a series of cases.
20161 citationsauthor #6
Genetic structure characterization of Chileans reflects historical immigration patterns
2015130 citationsauthor #5
Cleft Palate, Interdisciplinary Diagnosis, and Treatment
201512 citationsauthor #3
Practical guidelines for managing adults with 22q11.2 deletion syndrome
2015243 citationsauthor #14
MP68-16 ASSOCIATION OF GENETIC VARIANTS WITH THE OCCURRENCE OF BLADDER CANCER IN AN ARSENIC-EXPOSED POPULATION
20150 citationsauthor #6
Pulmonary antracosis on natural mummies of XVI-XVIII century AD from Roccapelago (MO, Italy)
20153 citationsauthor #2
Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency
201542 citationsauthor #2
Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
201520 citationsauthor #6
Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study
201455 citationsauthor #1
For peer review only CASE -FATALITY RATE IN 22Q11 MICRODELETION SYNDROME PATIENTS
20140 citationsauthor #1
The genetic basis of DOORS syndrome: an exome-sequencing study
2014165 citationsauthor #22
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome
20122 citationsauthor #7
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes
2012177 citationsauthor #7
Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome.
201213 citationsauthor #6
Preeclampsia: Molecular Mechanisms, Predisposition, and Treatment
20120 citationsauthor #3
Congenital Malformation Syndromes
20120 citationsauthor #1
[Comparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance].
20126 citationsauthor #7
Growth in Chilean infants with chromosome 22q11 microdeletion syndrome
201213 citationsauthor #6
Pathogenesis of Preeclampsia: The Genetic Component
2011146 citationsauthor #5
Angiotensin-converting enzyme insertion/deletion polymorphism is associated with severe hypoxemia in pediatric ARDS
201128 citationsauthor #8
Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations.
201126 citationsauthor #4
P09.09: Berry shape vault in a Pallister‐Hall fetus: a report
20100 citationsauthor #2
P09.10: Bilateral upper amelia and extreme microcephaly mimicking anencephaly: a case of XK‐aprosencephaly
20100 citationsauthor #4
Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene
200959 citationsauthor #1
Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results
200959 citationsauthor #16
Supplementary webappendix
20093,193 citationsauthor #19
VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study.
20098 citationsauthor #9
XV-2c and KM.19 haplotype analysis in Chilean patients with cystic fibrosis and unknown CFTR gene mutations.
20074 citationsauthor #1
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
200510 citationsauthor #3
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
200452 citationsauthor #9
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
2004783 citationsauthor #2
[Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome].
20045 citationsauthor #6
Y Chromosome Sequences in Turner's Syndrome: Association with Virilization and Gonadoblastoma
200348 citationsauthor #3
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
20038 citationsauthor #3
[Correlation between phenotype and genotype in a group of patients with cystic fibrosis].
20025 citationsauthor #3
[Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis].
20014 citationsauthor #1

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