A5103247519- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Cancer Genomics and Diagnostics
- Prostate Cancer Treatment and Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Lysosomal Storage Disorders Research
- Systemic Sclerosis and Related Diseases
- Neurological diseases and metabolism
- Ion channel regulation and function
- Prion Diseases and Protein Misfolding
- Gestational Trophoblastic Disease Studies
- Connective tissue disorders research
- Blood disorders and treatments
- Porphyrin Metabolism and Disorders
- Renal and Vascular Pathologies
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Glycogen Storage Diseases and Myoclonus
- Congenital heart defects research
- Intraocular Surgery and Lenses
- Radiopharmaceutical Chemistry and Applications
- Multiple Sclerosis Research Studies
- Genetic Neurodegenerative Diseases
Tufts Medical Center
2017-2025
Myriad Genetics
2025
Tufts Children's Hospital
2017-2022
Foundation Medicine (United States)
2018
Importance Genomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a targeted neonatal gene-sequencing test provides comparable molecular diagnostic yields times to return of results. Objective To compare outcomes with those test. Design, Setting, Participants The Medicine for Ill Neonates Infants (GEMINI) study was prospective, comparative, multicenter 400 hospitalized infants younger than 1 year age (proband)...
<h3>Importance</h3> A targeted genomic sequencing platform focused on diseases presenting in the first year of life may minimize financial and ethical challenges associated with rapid whole-genomic sequencing. <h3>Objective</h3> To report interim variants interpretations an ongoing study comparing a novel composed 1722 actionable genes targeting disorders infancy. <h3>Design, Setting, Participants</h3> The Genomic Medicine Ill Neonates Infants (GEMINI) is prospective, multicenter clinical...
ABSTRACT Objective Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, most studies having small sample sizes. Here, we describe outcomes and management a large cohort of that screened positive for an RAA (RAA+). Methods Results prenatal cell‐free DNA screening were linked to de‐identified insurance claims data. Diagnosis procedure codes used estimate pregnancy management. Relevant covariates comparative analyses adjusted using propensity‐score matching....
Abstract Introduction Rapid genome sequencing (rGS) provides high diagnostic yield for critically ill infants with suspected genetic disorders, but it has upfront costs and insufficient insurance coverage. Assessing the long-term of rGS is important guiding coverage decisions. This study compares 1-year healthcare for: 1) early (within 7 days admission) all infants, 2) targeted neonatal gene (NewbornDx) followed by after undiagnosed infants. Methods The Genomic Medicine Ill Neonates Infants...
Background Papillorenal syndrome is an autosomal dominant disorder associated with mutations in the gene PAX2 and often presents characteristic specific optic disc findings, frequently renal dysplasia. In at least half of cases, identifiable mutation can be detected. We report ocular findings a second case papillorenal c.350 G > C (p.Arg117Pro) detected within gene.Methods A due to mutation. Complete ophthalmologic examination was performed as well color fundus photography, autofluorescence,...
Rodríguez-Moreno, José MD; Zhou, Lan MD, PhD; Arkun, Knarik Bali, Deeksha Reed, Dallas Kalish, Robert Vullaganti, Mithila Taha Soto, Óscar PhD Author Information