Emily Evangelista
A5071472191- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neurological diseases and metabolism
- Prenatal Screening and Diagnostics
- Metalloenzymes and iron-sulfur proteins
- Cancer Genomics and Diagnostics
- Autopsy Techniques and Outcomes
- Artificial Intelligence in Healthcare and Education
- Agricultural and Food Sciences
- Folate and B Vitamins Research
- Radiology practices and education
- Digital Communication and Language
- Congenital heart defects research
- Ethics and Legal Issues in Pediatric Healthcare
- Genetics and Neurodevelopmental Disorders
- Porphyrin Metabolism and Disorders
- Tracheal and airway disorders
- Genetic factors in colorectal cancer
- Genetic Associations and Epidemiology
- Biotechnology and Related Fields
- Cancer-related gene regulation
- Music and Audio Processing
- Metabolism and Genetic Disorders
- Speech and dialogue systems
- Surgical Simulation and Training
Broad Institute
2020-2024
Boston Children's Hospital
2024
University of South Florida
2023-2024
Broad Center
2023
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly a negative evaluation, remains poorly defined.
Abstract Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy 200 families who had experienced fetal or newborn death, providing a definitive candidate genetic diagnosis in 105 Our cohort provides evidence of severe atypical utero presentations known disorders identifies novel phenotypes disease genes. Inheritance 42% diagnoses were either autosomal recessive (30.8%), X-linked (3.8%) dominant (excluding de...
Abstract Background Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers then turn to genome (GS), though the added value of this technique its optimal use poorly defined. We therefore investigated advantages GS within a phenotypically diverse cohort. Methods was performed for 744 individuals with disease who were genetically undiagnosed. Analysis included review single nucleotide, indel,...
Abstract Background PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD is an early onset disease characterized by progressive loss of vision, muscular control, mental skills. The prevalence has not been previously calculated. Methods To provide the most accurate estimate, we utilized two independent approaches: database-based approach...
Accuracy and validity of voice AI algorithms rely on substantial quality data. Although commensurable amounts data are captured daily in centers across North America, there is no standardized protocol for acoustic management, which limits the usability these datasets artificial intelligence (AI) research.
ABSTRACT Current clinical guidelines recommend three genetic tests for the assessment of fetal structural anomalies: karyotype to detect microscopically-visible balanced and unbalanced chromosomal rearrangements, microarray (CMA) sub-microscopic copy number variants (CNVs), exome sequencing (ES) identify individual nucleotide changes in coding sequence. Advances genome (GS) analysis suggest that it is poised displace sequential application all conventional become a single diagnostic approach...
PLA2G6-Associated Neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD, OMIM 256600, ORPHA: 35069), atypical (atypical NAD, 610217), and PLA2G6-related dystonia-parkinsonism (PARK14, 612953), which are caused by recessive variants in the PLA2G6 gene. INAD is an early onset disorder associated severe symptoms including ataxia, mental motor deterioration, hypotonia, progressive spastic tetraparesis, visual impairments, bulbar...
Abstract Background PLA2G6-associated neurodegeneration (PLAN) comprises three diseases with overlapping features: infantile neuroaxonal dystrophy (INAD), atypical (atypical NAD), and PLA2G6-related dystonia-parkinsonism. INAD is an early onset disease characterized by progressive loss of vision, muscular control, mental skills. The prevalence has not been previously calculated. Methods To provide the most accurate estimate, we utilized two independent approaches: database-based approach...
Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and with new innovative methods can now reliably be identified from exome sequencing. Challenges still remain in accurate classification CNV pathogenicity. calling using GATK-gCNV was performed on exomes a cohort 6,633 families (15,759 individuals) heterogeneous phenotypes variable prior testing collected at Broad Institute Center for Mendelian Genomics GREGoR consortium. Each family's data analyzed