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Journal of Medical Genetics|August 9, 2023
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes ProjectA Rachel Moore, Jing Yu, Yang Pei, et al.Chinese Medical Journal|July 20, 2007
B to O erythrocyte conversion by the recombinant alpha-galactosidaseYang-pei Zhang, Feng Gong, Guo-qiang Bao, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 24, 2026
Expanding the phenotypic spectrum associated with ZIC1 variants: a neurodevelopmental disorder with and without craniosynostosisLaura M Watts, Michelle S M Chang, Elizabeth Lewis-Orr, et al.Pageof 13