Maureen Pittman
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View article: Comparing chromatin contact maps at scale: methods and insights
Comparing chromatin contact maps at scale: methods and insights Open
Comparing chromatin contact maps is an essential step in quantifying how three-dimensional (3D) genome organization shapes development, evolution, and disease. However, methods often disagree, and no gold standard exists for comparing pair…
View article: Comparing chromatin contact maps at scale: methods and insights
Comparing chromatin contact maps at scale: methods and insights Open
Comparing chromatin contact maps is an essential step in quantifying how three-dimensional (3D) genome organization shapes development, evolution, and disease. However, no gold standard exists for comparing contact maps, and even simple me…
View article: Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy
Genetic Determinants of the Interventricular Septum Are Linked to Ventricular Septal Defects and Hypertrophic Cardiomyopathy Open
Background: A large proportion of genetic risk remains unexplained for structural heart disease involving the interventricular septum (IVS) including hypertrophic cardiomyopathy and ventricular septal defects. This study sought to develop …
View article: Comparing chromatin contact maps at scale: methods and insights
Comparing chromatin contact maps at scale: methods and insights Open
Comparing chromatin contact maps is an essential step in quantifying how three-dimensional (3D) genome organization shapes development, evolution, and disease. However, no gold standard exists for comparing contact maps, and even simple me…
View article: An oligogenic inheritance test detects risk genes and their interactions in congenital heart defects and developmental comorbidities
An oligogenic inheritance test detects risk genes and their interactions in congenital heart defects and developmental comorbidities Open
Exome sequencing of thousands of families has revealed many individual risk genes for congenital heart defects (CHD), yet most cases cannot be explained by a single causal mutation. Further, those who carry de novo and inherited mutations …
View article: Transcription factor protein interactomes reveal genetic determinants in heart disease
Transcription factor protein interactomes reveal genetic determinants in heart disease Open
View article: Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence
Reconstructing the 3D genome organization of Neanderthals reveals that chromatin folding shaped phenotypic and sequence divergence Open
Changes in gene regulation were a major driver of the divergence of archaic hominins (AHs)—Neanderthals and Denisovans—and modern humans (MHs). The three-dimensional (3D) folding of the genome is critical for regulating gene expression; ho…
View article: Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy
Genetic determinants of interventricular septal anatomy and the risk of ventricular septal defects and hypertrophic cardiomyopathy Open
Background The interventricular septum (IVS) plays a primary role in cardiovascular physiology and a large proportion of genetic risk remains unexplained for structural heart disease involving the IVS such as hypertrophic cardiomyopathy (H…
View article: Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes
Integration of Protein Interactome Networks with Congenital Heart Disease Variants Reveals Candidate Disease Genes Open
SUMMARY Congenital heart disease (CHD) is present in 1% of live births, yet identification of causal mutations remains a challenge despite large-scale genomic sequencing efforts. We hypothesized that genetic determinants for CHDs may lie i…
View article: Robust Sequence Determinants of α-Synuclein Toxicity in Yeast Implicate Membrane Binding
Robust Sequence Determinants of α-Synuclein Toxicity in Yeast Implicate Membrane Binding Open
Protein conformations are shaped by cellular environments, but how environmental changes alter the conformational landscapes of specific proteins in vivo remains largely uncharacterized, in part due to the challenge of probing prote…
View article: Robust Sequence Determinants of α-Synuclein Toxicity in Yeast Implicate Membrane Binding
Robust Sequence Determinants of α-Synuclein Toxicity in Yeast Implicate Membrane Binding Open
Protein conformations are shaped by cellular environments, but how environmental changes alter the conformational landscapes of specific proteins in vivo remains largely uncharacterized, in part due to the challenge of probing protein stru…
View article: Integration of Protein Interactome Networks With Congenital Heart Disease Variants Reveals Candidate Disease Genes
Integration of Protein Interactome Networks With Congenital Heart Disease Variants Reveals Candidate Disease Genes Open
View article: AOP-DB: A database resource for the exploration of Adverse Outcome Pathways through integrated association networks
AOP-DB: A database resource for the exploration of Adverse Outcome Pathways through integrated association networks Open