Search results (11)
« Back to PublicationsExploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.
Journal article
Pei Y. et al, (2025), Genome Med, 17
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Journal article
Pei Y. et al, (2024), Genes (Basel), 15
Characterising clinically relevant complex structural variants in craniosynostosis using long-range technologies
Conference paper
Pei Y. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 37 - 37
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100,000 Genomes Project
Conference paper
Moore R. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 600 - 601
Novel mechanism of craniosynostosis associated with chromosome 4q21 duplication: modelling in mice and iPSCs
Conference paper
Korona D. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 533 - 533
ZIC1 variants in neurodevelopmental disorder with and without craniosynostosis
Conference paper
Watts L. et al, (2024), EUROPEAN JOURNAL OF HUMAN GENETICS, 32, 73 - 74
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Journal article
Moore AR. et al, (2023), J Med Genet, 60, 1235 - 1244
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference: Oral Presentations.
Conference paper
(2022), Eur J Hum Genet, 30, 3 - 87
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Journal article
Hyder Z. et al, (2021), Genet Med, 23, 2360 - 2368
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Journal article
Pei Y. et al, (2019), Eur J Med Genet, 62