Inborn errors of metabolism and expanded newborn screening: review and update
CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
Inborn errors of metabolism (IEM) are a phenotypically and genetically heterogeneous
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …
group of disorders caused by a defect in a metabolic pathway, leading to malfunctioning …
Reliability of dried blood spot (DBS) cards in antibody measurement: A systematic review
F Amini, E Auma, Y Hsia, S Bilton, T Hall… - PLoS …, 2021 - journals.plos.org
Background Increasingly, vaccine efficacy studies are being recommended in low-and-
middle-income countries (LMIC), yet often facilities are unavailable to take and store infant …
middle-income countries (LMIC), yet often facilities are unavailable to take and store infant …
Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
V Steinthorsdottir, R McGinnis, NO Williams… - Nature …, 2020 - nature.com
Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal
health. In genome-wide association meta-analysis of European and Central Asian mothers …
health. In genome-wide association meta-analysis of European and Central Asian mothers …
The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders
CB Pedersen, J Bybjerg-Grauholm, MG Pedersen… - Molecular …, 2018 - nature.com
Abstract The Integrative Psychiatric Research (iPSYCH) consortium has established a large
Danish population-based Case–Cohort sample (iPSYCH2012) aimed at unravelling the …
Danish population-based Case–Cohort sample (iPSYCH2012) aimed at unravelling the …
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations
Asthma exacerbations are among the most frequent causes of hospitalization during
childhood, but the underlying mechanisms are poorly understood. We performed a genome …
childhood, but the underlying mechanisms are poorly understood. We performed a genome …
A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment
There is mounting evidence that seemingly diverse psychiatric disorders share genetic
etiology, but the biological substrates mediating this overlap are not well characterized. Here …
etiology, but the biological substrates mediating this overlap are not well characterized. Here …
Elevated fetal steroidogenic activity in autism
S Baron-Cohen, B Auyeung… - Molecular …, 2015 - nature.com
Autism affects males more than females, giving rise to the idea that the influence of steroid
hormones on early fetal brain development may be one important early biological risk factor …
hormones on early fetal brain development may be one important early biological risk factor …
Genetic variants associated with anxiety and stress-related disorders: a genome-wide association study and mouse-model study
Importance Anxiety and stress-related disorders are among the most common mental
disorders. Although family and twin studies indicate that both genetic and environmental …
disorders. Although family and twin studies indicate that both genetic and environmental …
Polygenic risk score, parental socioeconomic status, family history of psychiatric disorders, and the risk for schizophrenia: a Danish population-based study and meta …
Importance Schizophrenia has a complex etiology influenced both by genetic and
nongenetic factors but disentangling these factors is difficult. Objective To estimate (1) how …
nongenetic factors but disentangling these factors is difficult. Objective To estimate (1) how …
Neonatal vitamin D status and risk of schizophrenia: a population-based case-control study
JJ McGrath, DW Eyles, CB Pedersen… - Archives of general …, 2010 - jamanetwork.com
Context Clues from the epidemiology of schizophrenia suggest that low levels of
developmental vitamin D may be associated with increased risk of schizophrenia. Objective …
developmental vitamin D may be associated with increased risk of schizophrenia. Objective …