Genomics of developmental disorders and rare diseases

Director of the thesis leading to the degree of Master in Nutrition and Food, major in Human Nutrition.
Title of thesis: "Genetic and functional characterization of a new variant in the Phenylalanine Hydroxylase (PAH) gene found in Chilean patients with Phenylketonuria (PKU)"
Place and Period: Institute of Nutrition and Food Technology, Professor Doctor Fernando Mönckeberg Barros, University of Chile. January 2021- March 2024.

“Systematic use of free energy shift (??G) for reclassification of variants of uncertain significance (VUS): Mainzer-Saldino Syndrome as an example.” Oral presentation at the 63rd Chilean Congress of Pediatrics, Concepción, Chile. November 2024.

“Comparative analysis of two bioinformatics platforms for the genetic diagnosis of rare diseases.” Poster presented at the 1st Congress of Rare, Uncommon and Orphan Diseases of Chile (CERPOHCHI), Santiago, Chile. November 2024.

“Evaluation of the Free Energy Shift (??G) for resolution of IFT140 variants of uncertain significance (VUS) in Mainzer-Saldino Syndrome.” Poster presented at the 1st Congress of Rare, Uncommon and Orphan Diseases of Chile (CERPOHCHI), Santiago, Chile. November 2024.

“Clinical Characterization of a Skeletal Ciliopathy with Variants in the DYNC2H1 Gene.” Poster presented at the 1st Congress of Rare, Infrequent and Orphan Diseases of Chile (CERPOHCHI), Santiago, Chile. November 2024.

"A complex pediatric case with homozygous IFT140 variants involving renal cysts: a comprehensive analysis to guide diagnosis and patient care”. Poster presented at the World Congress of Nephrology, Buenos Aires, Argentina. April 2024.

"Fragile X Syndrome and FMR1-Associated Disorders: Why continue to suspect them?” Oral presentation at the LVI Annual Meeting of the Chilean Genetics Society, Talca, Chile. October 2023.

“Interventions through telemedicine and their impact on parental stress and challenging behaviors in children with Fragile X Syndrome.” Oral presentation at the LVI Annual Meeting of the Chilean Genetics Society, Talca, Chile. October 2023.

“Microsatellite analysis for the determination of the disease mechanism in Temple Syndrome”. Oral presentation at the LVI Annual Meeting of the Chilean Genetics Society, Talca, Chile. October 2023.

“Effect of the COVID-19 pandemic on postnatal cytogenetic diagnosis (CGD)". Oral presentation at the LVI Annual Meeting of the Chilean Genetics Society, Talca, Chile. October 2023.

“Genetic and functional characterization of a structural variant of the phenylalanine hydroxylase (PAH) gene found in Chilean patients with phenylketonuria (PKU)”. Oral presentation at the LVI Annual Meeting of the Chilean Genetics Society, Talca, Chile. October 2023.

“IFT140 variants in a pediatric patient with suspected polycystic kidney disease: clinical-genetic integration resulting in diagnostic reclassification”. Oral presentation at the LVI Annual Meeting of the Chilean Society of Genetics, Talca, Chile. October 2023.

“End of the diagnostic odyssey for 50% of a group of patients with rare diseases using exome sequencing”. Oral presentation at the LVI Annual Meeting of the Chilean Society of Genetics, Talca, Chile. October 2023.

“KMT2C pathogenic variants result in a neurodevelopmental disorder with distinct clinical and DNA methylation features”. Poster presented at the European Human Genetics Conference, Glasgow, United Kingdom. June 2023.

“Implementing a Multidisciplinary Program for Undiagnosed Rare Diseases in Chile”. Poster presented at RE(ACT) Congress & IRDiRC Conference 2023. Berlin, Germany. March 2023.

“Monallelic variants in the 5' coding portion of the TRA2B gene cause a new neurodevelopmental syndrome”. Oral presentation at the 5th Annual Meeting of the Chilean Society of Genetics, Punta Arenas, Chile. November 2022

“Implementation of parent-mediated interventions via telematics as a strategy to support families with Fragile X Syndrome”. Poster presented at the 1st Pan-American Congress on Autism, Fragile X Syndrome and Neurodevelopmental Disorders. Cartagena de Indias, Colombia. October 2022

“Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2”. Poster presented at the American Society of Human Genetics 2021 Virtual Meeting. October 2021.

“Temple syndrome as a differential diagnosis in the Chilean population with suspected Silver-Russell syndrome”. Poster presented at the XVIII Latin American Congress of Genetics (ALAG 2021). October 2021.

“Molecular characterization of unbalanced 45,X,add(13)(p10) karyotype of a man with azoospermia”. Poster presented at the XVIII Latin American Congress of Genetics (ALAG 2021). October 2021.

“Temple syndrome as a differential diagnosis in Chilean population with suspected Silver Russell syndrome”. Poster presented at the 6th International Conference of the Global Genomic Medicine Collaborative. October 2021.

“Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2”. Oral presentation at the European Human Genetics Virtual Conference. August 2021.

“Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.” Oral presentation at European Human Genetics Virtual Conference. August 2021.

“Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.” Oral presentation ACGS-BSGM UK Clinical Genomics 2021, UK. January 2021.

“Impaired eIF5A function causes a craniofacial-neurodevelopmental syndrome that is partially rescued in model systems by spermidine.” Oral presentation at The American Society of Human Genetics 2020 Virtual Meeting, USA October 2020.

“Impaired eIF5A function causes a craniofacial-neurodevelopmental syndrome that is partially rescued in model systems by spermidine.” Poster presented at the 16th Cold Spring Harbor Conference on Translational Control, USA, September 2020.

“Demographic and genetic modifiers of Fragile X Syndrome: analysis of a Chilean cohort.” Oral presentation at INSAR 2019 Regional Meeting, Puerto Varas, Chile. October 2019

“Incomplete Silencing of Full Mutation mRNA from Males with Fragile X Syndrome is Associated with More Severe Autistic Features.” Oral presentation at 19th International Fragile X and Related Neurodevelopmental Disorders Workshop, Sorrento, Italy. September 2019.

“Intellectual Functioning and Behavioral Features Associated with Mosaicism in Fragile X Syndrome.” Oral presentation at 19th International Fragile X and Related Neurodevelopmental Disorders Workshop, Sorrento, Italy. September 2019.

“Contributions for the clinical and behavioral characterization of Fragile X Syndrome. Data analysis of a Chilean cohort”. Poster presented at the 19th International Fragile X and Related Neurodevelopmental Disorders Workshop, Sorrento, Italy. September 2019.

“A restricted spectrum of KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome”. Oral presentation at the European Human Genetics Conference, Gothenburg, Sweden. June 2019.

“Phenotypic spectrum of novel intellectual disability syndrome due to de novo variants in KMT2E”. Oral presentation at the European Human Genetics Conference, Gothenburg, Sweden. June 2019.

“Further delineation of the phenotypic spectrum and functional validation of KMT5B-associated neurodevelopmental disorder”. Poster presented at the 2019 ACMG Annual Clinical Genetics Meeting, Seattle, USA. April 2019

“Array Comparative Genomic Hybridisation (aCGH) study in 420 Chilean patients with
neurodevelopmental disorders or congenital anomalies”. Poster presentation at the LI Annual Meeting of the Chilean Society of Genetics, Puerto Varas, Chile. November 2018.

“Partial trisomy 5 arisen from two small supernumerary marker chromosomes”. Poster presentation at the LI Annual Meeting of the Chilean Society of Genetics, Puerto Varas, Chile. November 2018.

“Examination of the landscape of histone lysine methylases and demethylases in human developmental disorders leads to identification of novel syndromes” Oral presentation at the 18th Manchester Dysmorphology Conference, Manchester, UK. November 2018.

“Array Comparative Genomic Hybridisation (aCGH) study in 420 Chilean patients with
neurodevelopmental disorders or congenital anomalies”. Oral presentation at the XXXVI Conference of the Society of Child and Adolescent Psychiatry and Neurology (SOPNIA), Santa Cruz, Chile. November 2018.

“Molecular characterisation of 2,114 Chilean patients with Fragile X syndrome: novel insights”. Oral presentation at the XXXVI Conference of the Society of Child and Adolescent Psychiatry and Neurology (SOPNIA), Santa Cruz, Chile. November 2018.

“Examination of the landscape of histone lysine methylases and demethylases in human developmental disorders leads to identification of novel syndromes” Oral presentation at the 39th Annual David W. Smith Workshop on Malformations and Morphogenesis, Banff, Canada. August 2018.

“Examination of the landscape of histone lysine methylases and demethylases in human developmental disorders leads to identification of novel syndromes” Oral presentation at the European Human Genetics Conference, Milano, Italy. June 2018.

“FMR1 mRNA in Blood As a Predictor of Intellectual Functioning and Autism Severity in Fragile X Syndrome: Is There a Difference between Sexes?” Poster presentation at the INSAR 2018 Annual Meeting, Rotterdam, The Netherlands. May 2018

“Complete Silencing of FMR1 is Uncommon in Fragile X Syndrome: Significance of Mosaicism”. Oral presentation showed at the18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, Canada. October 2017.

“Genes and Low and Non Calorie Sweeteners”. Oral presentation at Third Session, “Low and non-caloric sweeteners: Safety, nutritional aspects and benefit in food and beverages” Meeting, Lisbon, Portugal. July 2017.

“A systematic analysis of missense variants in KMT2D in Kabuki syndrome and cancer” Poster presented at the European Human Genetics Conference, Copenhagen, Denmark. May 2017.

“A systematic analysis of missense variants in KMT2D in Kabuki syndrome and cancer” Poster presented at the Genomics of Rare Disease, Hinxton, Cambridge, UK. April 2017.

“C677T and A1298C polymorphisms of MTHFR study in female premutation (PM) carriers of FMR1 gene”. Poster presented at the 2nd International Conference on FMR1 Premutation: Basic Mechanisms and Clinical Involvement, Barcelona, Spain. September- October 2015.

“Neuropsychological profile and prevalence of pathogenic cryptic Fragile X alleles in males, missed using the standard testing protocol”. Poster presented at the 17th International Fragile X and other Early-Onset Cognitive Disorders Workshop, Strasbourg, France. September 2015.

“Molecular Classes in 209 Patients with Prader-Willi or Angelman Syndromes: Lessons for Genetic Counseling”. Poster presentation at the BSGM Conference 2014, Liverpool, England.

“Osteomalacia as a key feature of Raine syndrome: changing the paradigm”. Poster presented at the European Human Genetics Conference 2013, Paris, France. June 2013.
Published in Eur J Hum Genet 2013; 21(Suppl 2):60

“Osteopenia as a key feature of Raine syndrome?” Oral presentation at the 44th Annual Meeting of Latin American Collaborative Study Group of Congenital Malformations (ECLAMC), Angra dos Reis, Brazil. November 2012.

“Hereditary chronic Pancreatitis: report of a Chilean family.” Poster presented at the 31st World Congress of Internal Medicine, Santiago, Chile. November 2012.

“Genetics of Congenital Deafness.” Oral presentation at Monthly Meeting of Genetics Branch, Chilean Society of Paediatrics, Santiago, Chile. 10th April 2012. [Presentation in Spanish]

“Case Analysis No. 12: a possible case of Legius syndrome or other RASopathy”. Oral presentation at the 43rd Annual Meeting of Latin American Collaborative Study Group of Congenital Malformations (ECLAMC), Caxias do Sul, Brazil. November 2011.

“Case Analysis No.3: a possible case of Raine syndrome”. Oral presentation at the 43rd Annual Meeting of Latin American Collaborative Study Group of Congenital Malformations (ECLAMC), Caxias do Sul, Brazil. November 2011.

“Lujan-Fryns syndrome: a case report”. Poster presented at the 44th Annual Meeting of Chilean Genetics Society, Puerto Varas, Chile. November 2011. [Poster in Spanish]

“Lujan-Fryns Syndrome as differential diagnosis of Schizophrenia”. Oral Poster presented at the 29th Congress of Chilean Society of Child and Adolescent Psychiatry and Neurology, Coquimbo, Chile. October 2011. Published in Rev Chil Psiquiatr Neurol Infanc Adolesc 2011; 22 (Suppl):92 [Poster and Paper in Spanish]

“Iron-deficiency anemia in women who had bariatric surgery: two-years follow up”. Oral presentation at the 31st Chilean Congress of Internal Medicine, Santiago, Chile. September 2009. [Presentation in Spanish]

“Association among metabolic and inflammatory parameters, and mineral nutritional status after gastric bypass: one-year follow up.” Oral presentation at the 31st Chilean Congress of Internal Medicine, Santiago, Chile. September 2009. [Presentation in Spanish]

“Body composition in hemodialysis patients.” Oral presentation at Clinical Nutrition Week, New Orleans, LA, USA. February 2009. Published in Clinical Nutrition Week 2009- Scientific Abstracts and Scientific Posters. J Parenter Enteral Nutr 2009; 33(2): 211.

“Dietetic adjustment of hemodialysis patients.” Oral presentation at the 18th Congress of the Toxicology, Bromatology and Nutrition Chilean Society, Puerto Varas, Chile.
November 2008. Published in Rev Chil Nutr 2008; 35(Supl 1): 307. [Presentation and Paper in Spanish]

“Bone mineral density in hemodialysis patients.” Poster presented at the 30th Chilean Congress of Internal Medicine, Coquimbo-La Serena, Chile. October 2008. [Poster in Spanish]

“Comparative analysis of different evaluation techniques of body composition in hemodialysis patients.” Poster presented at the 5th Chilean Congress of Clinical Nutrition and Metabolism, Viña del Mar, Chile. March 2008. [Poster in Spanish]