Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón +10 more
wiley +1 more source
Prenatal Exposure to Perfluoroalkyl Substances and Adiposity in Early and Mid-Childhood
Background: Few studies have examined whether prenatal exposure to perfluoroalkyl substances (PFASs) is associated with childhood adiposity. Objective: We examined associations of prenatal exposure to PFASs with adiposity in early and mid-childhood ...
Ana María Mora +7 more
semanticscholar +1 more source
A Population‐Based Assessment of Cancer Risk in Children With VACTERL
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark +15 more
wiley +1 more source
Since the 1970s, influential literature has been using famines as natural experiments to examine the long-term health impact of prenatal famine exposure at the individual level.
L H Lumey, Chihua Li, Cormac Ó Gráda
doaj +1 more source
Methodological Issues in Assessing the Impact of Prenatal Drug Exposure
Prenatal drug exposure is a common public health concern that can result in perinatal complications, birth defects, and developmental disorders. The growing literature regarding the effects of prenatal exposure to specific drugs such as tobacco, alcohol,
Carolien Konijnenberg
doaj +1 more source
The effects of socioeconomic status and indices of physical environment on reduced birth weight and preterm births in Eastern Massachusetts [PDF]
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work
A Ellaway +50 more
core +3 more sources
Prenatal Opioid Exposure: Neurodevelopmental Consequences and Future Research Priorities
We provide a concise review of the neurodevelopmental consequences of prenatal opioid exposure and an agenda for future research, addressing extant methodologic shortcomings. Neonatal opioid withdrawal syndrome (NOWS) has risen in prevalence from 1.2 per
Elisabeth Conradt +20 more
semanticscholar +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Exposure to a high fat diet (HFD) during gestation stimulates neurogenesis and expression of hypothalamic orexigenic neuropeptides that affect consummatory and emotional behaviors.
Kinning Poon +5 more
doaj +1 more source
Early-Life Air Pollution Exposure, Neighborhood Poverty, and Childhood Asthma in the United States, 1990⁻2014. [PDF]
Ambient air pollution is a well-known risk factor of various asthma-related outcomes, however, past research has often focused on acute exacerbations rather than asthma development.
Crowder, Kyle +5 more
core +3 more sources

