Genomic newborn screening for rare diseases
Z Stark, RH Scott - Nature Reviews Genetics, 2023 - nature.com
Rare diseases are a leading cause of infant mortality and lifelong disability. To improve
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
outcomes, timely diagnosis and effective treatments are needed. Genomic sequencing has …
Identification, evaluation, and management of children with autism spectrum disorder
SL Hyman, SE Levy, SM Myers, DZ Kuo, S Apkon… - …, 2020 - publications.aap.org
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …
Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland
CF Wright, P Campbell, RY Eberhardt… - … England Journal of …, 2023 - Mass Medical Soc
Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a …
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …
[HTML][HTML] Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation
H Hodges, C Fealko, N Soares - Translational pediatrics, 2020 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits
in social communication and the presence of restricted interests and repetitive behaviors …
in social communication and the presence of restricted interests and repetitive behaviors …
Neurodevelopmental disorders: from genetics to functional pathways
I Parenti, LG Rabaneda, H Schoen, G Novarino - Trends in Neurosciences, 2020 - cell.com
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development
and function and are characterized by wide genetic and clinical variability. In this review, we …
and function and are characterized by wide genetic and clinical variability. In this review, we …
[HTML][HTML] Tackling healthcare access barriers for individuals with autism from diagnosis to adulthood
N Malik-Soni, A Shaker, H Luck, AE Mullin… - Pediatric …, 2022 - nature.com
Most individuals with autism spectrum disorder (ASD)—a complex, life-long developmental
disorder—do not have access to the care required to address their diverse health needs …
disorder—do not have access to the care required to address their diverse health needs …
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: a systematic review and meta‐analysis
R Mellis, K Oprych, E Scotchman, M Hill… - Prenatal …, 2022 - Wiley Online Library
Objectives We conducted a systematic review and meta‐analysis to determine the
diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural …
diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal structural …
Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD)
A Genovese, MG Butler - International journal of molecular sciences, 2020 - mdpi.com
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …
neurobehavioral disorders characterized by impairment in three behavioral domains …
Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …