A5016098025- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Ethics and Legal Issues in Pediatric Healthcare
- BRCA gene mutations in cancer
- Metabolism and Genetic Disorders
- Tracheal and airway disorders
- Pharmacological Effects and Toxicity Studies
- Congenital Ear and Nasal Anomalies
- Neonatal Respiratory Health Research
- Autism Spectrum Disorder Research
Boston Children's Hospital
2019-2021
Massachusetts Department of Public Health
2021
Harvard University
2019-2021
MaineGeneral Medical Center
2017
Massachusetts General Hospital
2017
Albert Einstein College of Medicine
2017
Background Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure has also associated with an increased frequency of autism spectrum disorder (ASD). An cephalic index (the ratio cranial lateral width anterior–posterior length) observed children ASD. Methods Forty‐seven during first trimester...
Objectives. To determine how deaths of infants with genetic diagnoses are described in national mortality statistics. Methods. We present a retrospective cohort study data, obtained from the National Death Index (NDI), and clinical data for 517 born 2011 to 2017 who died before 1 year age United States. Results. Although 115 deceased (22%) had confirmed diagnosis disorder, only 61 (53%) were attributed International Classification Diseases, 10th Revision codes representing congenital...
Abstract Recognition of distinct phenotypic features is an important component genetic diagnosis. Although CHARGE syndrome, Kabuki and a recently delineated KMT2D Ex 38/39 allelic disorder exhibit significant overlap, differences on neuroimaging may help distinguish these conditions guide testing variant interpretation. We present infant clinically diagnosed with syndrome but subsequently found to have de novo missense in exon 38 , the gene implicated both disorder. compare her brain inner...