Renan Martin

Variant‐level matching for diagnosis and discovery: Challenges and opportunities

J. Lupski, S. Jhangiani, M. Bamshad, 2022, Human mutation.

The impact of GeneMatcher on international data sharing and collaboration

K. Doheny, C. Antonescu, A. Hamosh, 2022, Human mutation.

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

C. Haldeman-Englert, G. Semenza, Elizabeth Walek, 2022, PLoS genetics.