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
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
bstracts 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