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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

Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome

Journal article

Pei Y. et al, (2019), European Journal of Medical Genetics, 62, 103536 - 103536