Michael H. Guo
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View article: Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks
Genetic and epigenetic screens in primary human T cells link candidate causal autoimmune variants to T cell networks Open
View article: Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer’s disease
Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer’s disease Open
View article: Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease
Short tandem repeat expansions are a novel genetic risk factor for Alzheimer’s disease Open
Background Studies of the genetics of Alzheimer’s disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, much of the disease heritability has yet to be uncovered, suggesting that other form…
View article: Linking candidate causal autoimmune variants to T cell networks using genetic and epigenetic screens in primary human T cells
Linking candidate causal autoimmune variants to T cell networks using genetic and epigenetic screens in primary human T cells Open
Genetic variants associated with autoimmune diseases are highly enriched within putative cis -regulatory regions of CD4 + T cells, suggesting that they alter disease risk via changes in gene regulation. However, very few genetic variants h…
View article: Ischemic stroke associated with amyloid‐related imaging abnormalities in a patient treated with lecanemab
Ischemic stroke associated with amyloid‐related imaging abnormalities in a patient treated with lecanemab Open
INTRODUCTION Anti‐amyloid antibody therapies such as lecanemab are increasingly being used to treat Alzheimer's disease (AD). These therapies are associated with a high rate of amyloid‐related imaging abnormalities (ARIA). METHODS We revie…
View article: Abstract 1152 Quantitative Assessment of Antisense mRNA Expression in a Budding Yeast Oncohistone Model
Abstract 1152 Quantitative Assessment of Antisense mRNA Expression in a Budding Yeast Oncohistone Model Open
Histone proteins are essential to package chromatin within the cell nucleus as well as to regulate gene expression. Post-translational modifications (PTMs) on histones, such as methylation of lysine residues, regulates histone functions. C…
View article: The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics Open
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-g…
View article: The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics Open
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-g…
View article: P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants
P672: Commercial cystic fibrosis carrier screening tests and coverage of the ACMG 100 recommended variants Open
Pathogenic variants in the CFTR gene are associated with congenital bilateral absence of vas deferens, hereditary pancreatitis, CFTR-related disorders, and autosomal recessive cystic fibrosis (CF). The most severe of these is CF, a multisy…
View article: Inferring compound heterozygosity from large-scale exome sequencing data
Inferring compound heterozygosity from large-scale exome sequencing data Open
View article: Polygenic burden of short tandem repeat expansions promote risk for Alzheimer’s disease
Polygenic burden of short tandem repeat expansions promote risk for Alzheimer’s disease Open
Studies of the genetics of Alzheimer’s disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial …
View article: Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts Open
View article: OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity
OSR1 disruption contributes to uterine factor infertility via impaired Müllerian duct development and endometrial receptivity Open
Three sisters, born from consanguineous parents, manifested a unique Müllerian anomaly characterized by uterine hypoplasia with thin estrogen-unresponsive endometrium and primary amenorrhea, but with spontaneous tubal pregnancies. Through …
View article: Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Inferring compound heterozygosity from large-scale exome sequencing data
Inferring compound heterozygosity from large-scale exome sequencing data Open
Recessive diseases arise when both the maternal and the paternal copies of a gene are impacted by a damaging genetic variant in the affected individual. When a patient carries two different potentially causal variants in a gene for a given…
View article: Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets
Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets Open
View article: Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells Open
View article: Additional file 1 of Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets
Additional file 1 of Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets Open
Additional file 1: Supplementary Tables. Table S1. MS GWAS enrichment in 16 hematopoietic cell types. Table S2. MS GWAS enrichment of hematopoietic cell types in joint model. Table S3. MS GWAS pairwise enrichment in 16 hematopoietic cell t…
View article: High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency Open
View article: Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets
Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets Open
Multiple sclerosis (MS) is an autoimmune condition of the central nervous system with a well-characterized genetic background. Prior analyses of MS genetics have identified broad enrichments across peripheral immune cells, yet the driver i…
View article: High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiency
High-throughput splicing assays identify missense and silent splice-disruptive<i>POU1F1</i>variants underlying pituitary hormone deficiency Open
Pituitary hormone deficiency occurs in ∼1:4,000 live births. Approximately 3% of the cases are due to mutations in the alpha isoform of POU1F1, a pituitary-specific transcriptional activator. We found four separate heterozygous missense va…
View article: Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations Open
View article: The Polygenic and Monogenic Basis of Blood Traits and Diseases
The Polygenic and Monogenic Basis of Blood Traits and Diseases Open
View article: Publisher Correction: Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression
Publisher Correction: Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression Open
View article: Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression
Three-dimensional genome restructuring across timescales of activity-induced neuronal gene expression Open
View article: The Polygenic and Monogenic Basis of Blood Traits and Diseases
The Polygenic and Monogenic Basis of Blood Traits and Diseases Open
Summary Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant health burden. Here we integrate data from UK Biobank…
View article: Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations
Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations Open
SUMMARY Most loci identified by GWAS have been found in populations of European ancestry (EA). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EA individuals, we identified 5,552 tra…
View article: <i>TMEM106B</i> Effect on cognition in Parkinson disease and frontotemporal dementia
<i>TMEM106B</i> Effect on cognition in Parkinson disease and frontotemporal dementia Open
Objective Common variants near TMEM106B associate with risk of developing frontotemporal dementia (FTD). Emerging evidence suggests a role for TMEM106B in neurodegenerative processes beyond FTD. We evaluate the effect of TMEM106B genotype …
View article: Interrogation of human hematopoiesis at single-cell and single-variant resolution
Interrogation of human hematopoiesis at single-cell and single-variant resolution Open
View article: Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels Open