National Center on Birth Defects and Developmental Disabilities

Recent papers from National Center on Birth Defects and Developmental Disabilities

1. Sociodemographic and Clinical Profile of Adult Males With Duchenne Muscular DystrophyMuscle & Nerve · 2026
2. Systematic Literature Review on Public Health Impacts of Tourette Syndrome and Persistent Tic Disorders: General Health, Health Conditions, and Health BehaviorsJournal of Child and Adolescent Psychopharmacology · 2026
3. Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant womenAnnals of Medicine · 2026
4. Spectrum and carrier frequency of DMD in Yueyang, China: a population-based analysis using NGS and MLPAFrontiers in Genetics · 2026
5. Characteristics of Adults With Congenital Heart Defects in the United StatesJournal of the American College of Cardiology · 2020
6. Profile of individuals with full-scale intelligence quotient (FSIQ) scores in the National Spina Bifida Patient Registry (NSBPR)Journal of Pediatric Rehabilitation Medicine · 2026
7. Retrospective Cohort Study Measuring the Disparities in Post-COVID Conditions among Persons with Disabilities: Findings from Primary Care Settings, 2019-2022Research Connections · 2026
8. Integrated Single-Strand DNA Capture and Haplotype-Guided Variant Calling Platform for Non-Invasive Prenatal Testing of Monogenic DisordersDiagnostics · 2026
9. Reference Values of Peripheral Perfusion Index in Healthy Neonates and Preliminary Observations of Congenital Heart Disease in Tibet: A Cohort StudyInternational Journal of Neonatal Screening · 2026
10. Identifying genes associated with obstructive congenital heart defects using a family-based genetic random field methodHuman Genetics and Genomics Advances · 2026
11. Occupational Exposure and Health Symptoms Related to the Tijuana River Valley Sewage Crisis – Results from an Assessment of Chemical Exposures, California, 2024Journal of Occupational and Environmental Medicine · 2026
12. Characteristics of children with congenital heart defects and their caregivers in three U.S. sites: the Congenital Heart Survey To Recognize Outcomes Needs and well-beinG of KIDS (CHSTRONG KIDS)Progress in Pediatric Cardiology · 2026
13. Associations Between Red Blood Cell Folate Forms and Demographic, Physiologic, and Lifestyle Factors in the US Population: Cross-Sectional Data from the National Health and Nutrition Examination Survey August 2021–August 2023Current Developments in Nutrition · 2026
14. Racial and Ethnic Differences in Healthcare Access and Utilization Among Adults With Congenital Heart Defects in the Congenital Heart Survey to Recognize Outcomes, Needs and Well‐Being ( CH STRONG )Birth Defects Research · 2026
15. Congenital Cytomegalovirus Among Newborns in Neonatal Intensive Care Units, United States, 2010–2020Birth Defects Research · 2026
16. Targeting pulmonary vascular–alveolar coupling in bronchopulmonary dysplasia: Therapeutic mechanisms and translational prospects of extracellular vesicle-based drug deliveryPharmacological Research · 2026
17. Screening of glucose-6-phosphate dehydrogenase deficiency in a cohort of 215,137 newborns: an epidemiological and pathogenic variant spectrum study in Yueyang, ChinaFrontiers in Genetics · 2026
18. Availability of Folic Acid Fortified Corn Masa Products in Selected Areas in the United StatesBirth Defects Research · 2026
19. Fetal Y chromosome abnormalities cause false-low fetal fraction in NIPT: a retrospective analysis of 24,101 pregnant womenFrontiers in Genetics · 2026
20. Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomesContraception and Reproductive Medicine · 2026