Elena López

Simplifying the detection of MUTYH mutations by high resolution melting analysis

J. Wesselink, J. Diaz-Tasende, S. González, 2010, BMC Cancer.

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Phillip A. Richmond, W. Wasserman, C. Boerkoel, 2022, HGG advances.

Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications

C. Boerkoel, M. Demos, H. Gill, 2021, Cold Spring Harbor molecular case studies.

BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis

A. Delaney, C. Reilly, S. Tredwell, 2015, Journal of Human Genetics.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.