Paul J. Benke

A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.

V. Sheffield, E. Stone, A. Nystuen, 1996, Human molecular genetics.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Jill A. Madden, E. Roeder, A. Fatemi, 2021, Molecular genetics & genomic medicine.

OA1 mutations and deletions in X-linked ocular albinism.

K. Kidd, G. Quinn, S. Orlow, 1998, American journal of human genetics.

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

David R. Murdock, Lisa T. Emrick, C. Bacino, 2023, American journal of medical genetics. Part A.