A5081322628- Cystic Fibrosis Research Advances
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Peroxisome Proliferator-Activated Receptors
- Neonatal Respiratory Health Research
- Tracheal and airway disorders
- Genomics and Rare Diseases
- Hearing Loss and Rehabilitation
- Chronic Lymphocytic Leukemia Research
- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Congenital Ear and Nasal Anomalies
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Glycogen Storage Diseases and Myoclonus
- Mobile Health and mHealth Applications
- BRCA gene mutations in cancer
- Lysosomal Storage Disorders Research
- Telemedicine and Telehealth Implementation
- T-cell and B-cell Immunology
- Hearing Impairment and Communication
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Assistive Technology in Communication and Mobility
- Congenital Diaphragmatic Hernia Studies
- Adipose Tissue and Metabolism
New York State Department of Health
2014-2019
Wadsworth Center
2014-2019
Genomics (United Kingdom)
2016
Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin 2008, and SCID was added the national recommended uniform panel newborn screened disorders 2010. Currently 23 states, District of Columbia, Navajo Nation conduct population-wide SCID. The incidence is estimated at 1 100,000 births.To present data from a spectrum programs, establish population-based other conditions with lymphopenia, document early...
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss life due to adrenal insufficiency and timely therapy the childhood cerebral form X-ALD hematopoietic cell transplantation. This article describes X-ALD, current therapies, history development newborn screening test, approval by Secretary Health Human Services addition recommended uniform panel disorders screened as newborns (RUSP) successful implementation in state New York beginning on 30...
Abstract The use of live video consultations in genetics has been shown to improve patient access with high satisfaction; however, little is known about the current landscape clinical telehealth models field (i.e., telegenetics). This survey aimed address that gap across seven states and District Columbia. Among 51 self‐defined telegenetics programs responding an online survey, 32 currently utilized videoconferencing as at least one their technologies were “video‐capable”). Analysis this...
Infants are screened for cystic fibrosis (CF) in New York State (NYS) using an IRT-DNA algorithm. The purpose of this study was to validate and assess clinical validity the US FDA-cleared Illumina MiSeqDx CF 139-Variant Assay (139-VA) diverse NYS population. included 439 infants with identified via newborn screening (NBS) from 2002 2012. All had been Abbott Molecular Genotyping or Hologic InPlex Test. zero one mutation were tested 139-VA. DNA extracted dried blood spots reliably accurately...