Yang Pei
Oxford, ENG OX39DS, United Kingdom
Last Updated: 09/26/2026
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Found 8 publications
Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 03, 2026
Transmission ratio distortion of NF1 mutant alleles in familial Neurofibromatosis type 1.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 05, 2025
Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 16, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.
Journal: Genome medicine
Published: March 01, 2025
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.
Journal: Genes
Published: June 04, 2024
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Journal: Journal of medical genetics
Published: April 26, 2023
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 12, 2021
Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.
Journal: European journal of medical genetics
Published: June 27, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026