Bernice E. Morrow
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View article: Transcription and potential functions of a novel <i>XIST</i> isoform in male peripheral glia
Transcription and potential functions of a novel <i>XIST</i> isoform in male peripheral glia Open
The XIST RNA is known for its critical roles in X Chromosome inactivation (XCI). It is thought to be expressed exclusively from one copy of the X Chromosome and silence it by recruiting various chromatin factors in female cells. In this st…
View article: Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions
Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions Open
This study is aimed at determining the spectrum of congenital heart disease associated with distal 22q11.22–23 deletions flanked by low copy repeats, LCR22 D–H. We analyzed cardiology findings in 128 unrelated individuals with distal LCR22…
View article: Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS
Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS Open
Congenital heart defects (CHDs) occur in 50–75% of patients with 22q11.2 deletion syndrome (22q11.2DS), ranging from mild to severe manifestations. The genetic and environmental factors contributing to variable CHD phenotypes in 22q11.2DS …
View article: Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion
Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion Open
Context Elevated a priori risk may enhance the likelihood that common variant effects, captured collectively in a polygenic risk score (PRS), approach clinical utility. Objective In this study, we investigated the modifying effect of PRSs …
View article: scDAPP: a comprehensive single-cell transcriptomics analysis pipeline optimized for cross-group comparison
scDAPP: a comprehensive single-cell transcriptomics analysis pipeline optimized for cross-group comparison Open
Single-cell transcriptomics profiling has increasingly been used to evaluate cross-group (or condition) differences in cell population and cell-type gene expression. This often leads to large datasets with complex experimental designs that…
View article: Influence of polygenic risk on height and BMI in adults with a 22q11.2 microdeletion
Influence of polygenic risk on height and BMI in adults with a 22q11.2 microdeletion Open
Background Adult height and body mass index (BMI) are highly heritable traits that can be influenced by both common variants, captured collectively in a polygenic risk score (PRS), and by rare variants of large effect. In this study, we ai…
View article: Optically Mapped Black Genomes: Distinct Structures and 22q11.2 Deletion Syndrome Mechanisms
Optically Mapped Black Genomes: Distinct Structures and 22q11.2 Deletion Syndrome Mechanisms Open
The genomic architecture of 22q11.2 Deletion Syndrome (22q11.2DS) has focused on analysis of white genomes. However, Black individuals appear to have a lower prevalence of 22q11.2DS compared to whites. To improve the understanding of diffe…
View article: scDAPP: a comprehensive single-cell transcriptomics analysis pipeline optimized for cross-group comparison
scDAPP: a comprehensive single-cell transcriptomics analysis pipeline optimized for cross-group comparison Open
Single-cell transcriptomics profiling has increasingly been used to evaluate cross-group differences in cell population and cell-type gene expression. This often leads to large datasets with complex experimental designs that need advanced …
View article: Risk of meningomyelocele mediated by the common 22q11.2 deletion
Risk of meningomyelocele mediated by the common 22q11.2 deletion Open
Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and g…
View article: <i>Crk</i> and <i>Crkl</i> Are Required in the Endocardial Lineage for Heart Valve Development
<i>Crk</i> and <i>Crkl</i> Are Required in the Endocardial Lineage for Heart Valve Development Open
Background Endocardial cells are a major progenitor population that gives rise to heart valves through endocardial cushion formation by endocardial to mesenchymal transformation and the subsequent endocardial cushion remodeling. Genetic va…
View article: <i>Crk/Crkl</i>regulates early angiogenesis in mouse embryos by accelerating endothelial cell maturation
<i>Crk/Crkl</i>regulates early angiogenesis in mouse embryos by accelerating endothelial cell maturation Open
Rationale Ubiquitously expressed cytoplasmic adaptors CRK and CRKL mediate multiple signaling pathways in mammalian embryogenesis. They are also associated with cardiovascular defects occurring in Miller-Dieker syndrome and 22q11.2 deletio…
View article: An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies
An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies Open
Background Single-cell technologies to analyze transcription and chromatin structure have been widely used in many research areas to reveal the functions and molecular properties of cells at single-cell resolution. Sample multiplexing tech…
View article: Additional file 4 of An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies
Additional file 4 of An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies Open
Additional file 4. A list of identified TAPEs.
View article: Additional file 3 of An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies
Additional file 3 of An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies Open
Additional file 3. NuHash demultiplexing script.
View article: An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide conjugated antibodies
An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide conjugated antibodies Open
Background Single-cell technologies to analyze transcription and chromatin structure have been widely used in many research areas to reveal the functions and molecular properties of cells at single-cell resolution. Sample multiplexing tech…
View article: Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome Open
Learning and intellectual disabilities are hallmark features of 22q11.2 deletion syndrome. Data are limited, however, regarding influences on full-scale IQ (FSIQ). Here, we investigated possible 22q11.2 deletion parent-of-origin effects. I…
View article: Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS and sporadic congenital heart disease Open
Background Congenital heart disease (CHD) affecting the conotruncal region of the heart, occur in half of patients with 22q11.2 deletion syndrome. This syndrome is a rare disorder with relative genetic homogeneity that can facilitate ident…
View article: Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with <scp>GPIb</scp> surface expression
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with <span>GPIb</span> surface expression Open
Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non‐deleted populations. They also have an increased mean platelet volume. The mechanism for th…
View article: Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression
Platelet findings in 22q11.2 Deletion Syndrome correlate with disease manifestations but do not correlate with GP1b surface expression Open
Prior studies have demonstrated that patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) have lower platelet counts (PC) compared to non-deleted populations. They also have an increased mean platelet volume. The mechanism for th…
View article: Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm
Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm Open
The poles of the heart and branchiomeric muscles of the face and neck are formed from the cardiopharyngeal mesoderm within the pharyngeal apparatus. They are disrupted in patients with 22q11.2 deletion syndrome, due to haploinsufficiency o…
View article: <i>Crk</i> and <i>Crkl</i> have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation
<i>Crk</i> and <i>Crkl</i> have shared functions in neural crest cells for cardiac outflow tract septation and vascular smooth muscle differentiation Open
CRK and CRKL encode cytoplasmic adaptors that contribute to the etiology of congenital heart disease. Neural crest cells (NCCs) are required for cardiac outflow tract (OFT) septation and aortic arch formation. The roles of Crk/Crkl in NCCs…
View article: Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States
Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States Open
Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects m…
View article: Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects
Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects Open
There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related g…