Jonathan Jackson

Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.

A. Chakravarti, N. Sobreira, C. Willoughby, 2021, Human molecular genetics.

Identification and functional characterization of new potentially defective alleles of human CYP2C19.

H. Mohrenweiser, J. Goldstein, S. Ferguson, 2002, Pharmacogenetics.

ASFMR1 splice variant

D. Hall, B. Ouyang, E. Berry-Kravis, 2018, Neurology: Genetics.

Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome

M. Brilliant, J. Greenberg, P. Rathouz, 2018, Front. Genet..

Mutational screening of VSX1 in keratoconus patients from the European population

D. Frazer, C. Willoughby, E. Héon, 2010, Eye.