Systemic lupus erythematosus in children and young people
Abstract Purpose of Review Juvenile-onset systemic lupus erythematosus ((j) SLE) is an
autoimmune/inflammatory disease that results in significant damage and disability. When …
autoimmune/inflammatory disease that results in significant damage and disability. When …
Retention of duplicated genes in evolution
Gene duplication is a prevalent phenomenon across the tree of life. The processes that lead
to the retention of duplicated genes are not well understood. Functional genomics …
to the retention of duplicated genes are not well understood. Functional genomics …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
[HTML][HTML] The individual and global impact of copy-number variants on complex human traits
The impact of copy-number variations (CNVs) on complex human traits remains
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …
understudied. We called CNVs in 331,522 UK Biobank participants and performed genome …
Functional characterization of human genomic variation linked to polygenic diseases
The burden of human disease lies predominantly in polygenic diseases. Since the early
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
2000s, genome-wide association studies (GWAS) have identified genetic variants and loci …
Rare copy-number variants as modulators of common disease susceptibility
Abstract Background Copy-number variations (CNVs) have been associated with rare and
debilitating genomic disorders (GDs) but their impact on health later in life in the general …
debilitating genomic disorders (GDs) but their impact on health later in life in the general …
Genome-wide association testing beyond SNPs
Decades of genetic association testing in human cohorts have provided important insights
into the genetic architecture and biological underpinnings of complex traits and diseases …
into the genetic architecture and biological underpinnings of complex traits and diseases …
X-CNV: genome-wide prediction of the pathogenicity of copy number variations
Background Gene copy number variations (CNVs) contribute to genetic diversity and
disease prevalence across populations. Substantial efforts have been made to decipher the …
disease prevalence across populations. Substantial efforts have been made to decipher the …
[HTML][HTML] Influences of rare copy-number variation on human complex traits
The human genome contains hundreds of thousands of regions harboring copy-number
variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown …
variants (CNV). However, the phenotypic effects of most such polymorphisms are unknown …
An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities
I Slaby, HS Hain, D Abrams, FD Mentch… - Journal of …, 2022 - Springer
Background In over half of pediatric cases, ADHD presents with comorbidities, and often, it is
unclear whether the symptoms causing impairment are due to the comorbidity or the …
unclear whether the symptoms causing impairment are due to the comorbidity or the …