A5059103201- Birth, Development, and Health
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neonatal Respiratory Health Research
- Pregnancy-related medical research
- Autopsy Techniques and Outcomes
- Genetics, Bioinformatics, and Biomedical Research
- Preterm Birth and Chorioamnionitis
- Congenital Heart Disease Studies
- CRISPR and Genetic Engineering
- Infant Nutrition and Health
- Reproductive System and Pregnancy
- Electrolyte and hormonal disorders
- Congenital heart defects research
- Cancer Genomics and Diagnostics
- Pregnancy and preeclampsia studies
- Respiratory Support and Mechanisms
- Liver Disease and Transplantation
- Prenatal Screening and Diagnostics
- Alcohol Consumption and Health Effects
- Ethics and Legal Issues in Pediatric Healthcare
- Alcoholism and Thiamine Deficiency
- BRCA gene mutations in cancer
University of Washington Medical Center
2024
Columbia University Irving Medical Center
2023-2024
Broad Institute
2021-2023
Massachusetts General Hospital
2021-2022
Massachusetts Institute of Technology
2021-2022
University Gastroenterology
2013
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...
SUMMARY Rare deletions and duplications of genomic segments, collectively known as rare copy number variants (rCNVs), contribute to a broad spectrum human diseases. To date, most disease-association studies rCNVs have focused on recognized disorders or the impact haploinsufficiency caused by deletions. By comparison, our understanding in disease remains rudimentary very few individual genes are be triplosensitive ( i . e ., duplication intolerant). In this study, we meta-analyzed from...
Preterm infants (<34 weeks' gestation) experience high rates of morbidity and mortality before hospital discharge. Genetic disorders substantially contribute to in related populations. The prevalence clinical impact genetic is unknown this population. We sought determine the commonly diagnosed preterm infants, association with mortality.This was a retrospective multicenter cohort study born from 23 33 gestation between 2000 2020. were abstracted diagnoses present electronic health records....
<h3>Introduction</h3> Hospital admissions with decompensated chronic alcoholic liver disease (ALD) have been increasing, leading to increased pressure on intensive care unit (ICU) services. We aimed determine the outcome and prognostic factors for patients ALD requiring admission ICU. <h3>Methods</h3> This was a retrospective study over five year period (January 2006 – December 2010) of ICU St James’ Leeds, either known or at first presentation. reviewed in detail case notes laboratory...
Preterm infants born small, vs. appropriate for gestational age (SGA, AGA) are at greater risk morbidity and mortality. The contribution of genetic disorders to preterm SGA birth, morbidity, mortality is unknown. We sought determine the association between or within infants. hypothesized that were significantly associated with both.This was a retrospective multicenter cohort study 409 339 infants, 23-33 weeks' gestation 2000 2020. odds (vs severe determined disorders, after adjusting known...