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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
TLDR
Clinical genotyping of patients with CHD may help to identify those at greatest risk of neurodevelopmental disabilities, allowing surveillance and early intervention and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. Expand
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
TLDR
Exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent–offspring trios, implicated rare inherited mutations in 1.8%, and DNMs in ∼440 genes were inferred to contribute to CHD. Expand
Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy
TLDR
Cardiac microtissues engineered from human induced pluripotent stem (iPS) cells are a powerful system for evaluating the pathogenicity of titin gene variants and it is found that certain missense mutations, like TTNtvs, diminish contractile performance and are pathogenic. Expand
Drosophila AP-1: lessons from an invertebrate
In recent years, studies in the model organism Drosophila melanogaster have contributed significant insights into the molecular and developmental biology of the AP-1 transcription factors Jun andExpand
Single-Cell Resolution of Temporal Gene Expression during Heart Development.
TLDR
This spatiotemporal transcriptome analysis of heart development reveals lineage-specific gene programs underlying normal cardiac development and congenital heart disease. Expand
Interpreting de novo Variation in Human Disease Using denovolyzeR
TLDR
A new open‐source software package, denovolyzeR, is described that implements a recently described mutational model and provides tools for the analysis of de novo coding sequence variants. Expand
JNK signaling coordinates integrin and actin functions during Drosophila embryogenesis
TLDR
It is demonstrated that JNK signaling regulates a set of target genes that cooperate to facilitate epithelial movement and closure, and it is shown that zipping is mediated by regulation of the integrins myospheroid and scab. Expand
CANOES: detecting rare copy number variants from whole exome sequencing data
TLDR
The CANOES method is complementary to Gaussian approximation-based methods (e.g. XHMM or CoNIFER) and when used in combination with these methods will be possible to produce high accuracy calls, as demonstrated by a much reduced and more realistic de novo rate in results from trio data. Expand
Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data
TLDR
A significantly increased frequency of rare de novo CNVs in CHD patients compared with healthy controls is demonstrated and several novel genetic loci for CHD are suggested. Expand
Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells
TLDR
The study demonstrates the feasibility of highly specific clonal ex vivo gene editing using CRISPR/Cas9 and highlights the value of whole-genome sequencing before personalisedCRISPR design and identifies a single high-efficiency off-target site that is generated by a common germline single-nucleotide variant (SNV). Expand
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