Kelsey McFadden

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

J. Lupski, A. Sabo, R. Lewis, 2016, American journal of human genetics.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Manolis Kellis, Irwin Jungreis, S. Sunyaev, 2018, bioRxiv.