Kirsty Ambridge
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View article: Phylo-Plex: A phylogenetically informed, low-cost amplicon sequencing platform for deployable high-resolution genomic epidemiology
Phylo-Plex: A phylogenetically informed, low-cost amplicon sequencing platform for deployable high-resolution genomic epidemiology Open
Genomic pathogen surveillance is a powerful tool for public health and research, but is costly and unachievable in low-resource settings. Most sub-genomic typing methods sacrifice resolution whilst remaining costly. We developed “Phylo-Ple…
View article: Author response: A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture
Author response: A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture Open
View article: A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture
A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture Open
Schistosoma mansoni is a parasitic flatworm that causes the major neglected tropical disease schistosomiasis. The miracidium is the first larval stage of the life cycle. It swims and infects a freshwater snail, transforms into a mother spo…
View article: Author response: A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture
Author response: A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture Open
Schistosomes are parasitic flatworms that cause the water-borne disease schistosomiasis, affecting millions of people worldwide. The miracidium larva of schistosomes represents the first post-embryonic stage of development and is critical …
View article: A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture
A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture Open
Schistosomes are parasitic flatworms that cause the water-borne disease schistosomiasis, affecting millions of people worldwide. The miracidium larva of schistosomes represents the first post-embryonic stage of development and is critical …
View article: A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture
A single-cell atlas of the miracidium larva of the human blood fluke Schistosoma mansoni: cell types, developmental pathways and tissue architecture Open
Schistosomes are parasitic flatworms that cause the water-borne disease schistosomiasis, affecting millions of people worldwide. The miracidium larva of schistosomes represents the first post-embryonic stage of development and is critical …
View article: A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture
A single-cell atlas of the miracidium larva of Schistosoma mansoni reveals cell types, developmental pathways, and tissue architecture Open
Schistosoma mansoni is a parasitic flatworm that causes the major neglected tropical disease schistosomiasis. The miracidium is the first larval stage of the life cycle. It swims and infects a freshwater snail, transforms into a mother spo…
View article: Transcriptional signals of transformation in human cancer
Transcriptional signals of transformation in human cancer Open
View article: A single-cell atlas of the miracidium larva of the human blood fluke <i>Schistosoma mansoni</i> : cell types, developmental pathways and tissue architecture
A single-cell atlas of the miracidium larva of the human blood fluke <i>Schistosoma mansoni</i> : cell types, developmental pathways and tissue architecture Open
Schistosomes are parasitic flatworms that cause the water-borne disease schistosomiasis, affecting millions of people worldwide. The miracidium larva of schistosomes represents the first post-embryonic stage of development and is critical …
View article: Transcriptional signals of dedifferentiation in human cancer
Transcriptional signals of dedifferentiation in human cancer Open
As normal cells transform into cancers, their cell state changes (or “dedifferentiates”), which may drive cancer cells into a stem-like or more primordial, foetal or embryonic cell state. Here, we used single cell atlases to study dediffer…
View article: Precise identification of cancer cells from allelic imbalances in single cell transcriptomes
Precise identification of cancer cells from allelic imbalances in single cell transcriptomes Open
View article: Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation Open
View article: Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation Open
During activation, T cells undergo extensive changes in gene expression which shape the properties of cells to exert their effector function. Therefore, understanding the genetic regulation of gene expression during T cell activation provi…
View article: Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation Open
During activation, T cells undergo extensive changes in gene expression which shape the properties of cells to exert their effector function. Therefore, understanding the genetic regulation of gene expression during T cell activation provi…
View article: Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation
Immune disease risk variants regulate gene expression dynamics during CD4+ T cell activation Open
During activation, T cells undergo extensive changes in gene expression which shape the properties of cells to exert their effector function. Therefore, understanding the genetic regulation of gene expression during T cell activation provi…
View article: Blood and immune development in human fetal bone marrow and Down syndrome
Blood and immune development in human fetal bone marrow and Down syndrome Open
View article: Intrinsic and extrinsic regulation of human fetal bone marrow haematopoiesis and perturbations in Down syndrome
Intrinsic and extrinsic regulation of human fetal bone marrow haematopoiesis and perturbations in Down syndrome Open
Throughout postnatal life, haematopoiesis in the bone marrow (BM) maintains blood and immune cell production. Haematopoiesis first emerges in human BM at 12 post conception weeks while fetal liver (FL) haematopoiesis is still expanding. Ye…
View article: Single cell derived mRNA signals across human kidney tumors
Single cell derived mRNA signals across human kidney tumors Open
View article: Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data Open
View article: Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Open
View article: Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Open
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
View article: Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia Open
View article: Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Open
View article: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Open
View article: Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders Open
View article: Prevalence, phenotype and architecture of developmental disorders caused by<i>de novo</i>mutation: The Deciphering Developmental Disorders Study
Prevalence, phenotype and architecture of developmental disorders caused by<i>de novo</i>mutation: The Deciphering Developmental Disorders Study Open
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these …