Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

by Catherine Cukras, Terry Gaasterland, Pauline Lee, Harini V Gudiseva, Venkata R M Chavali, Raghu Pullakhandam, Bruno Maranhao, Lee Edsall, Sandra Soares, G Bhanuprakash Reddy, Paul A Sieving, Radha Ayyagari
Published 2012-01-01

Improving Interpretability in Machine Diagnosis

by Xiaoshuang Shi, PhD, Tiarnan D.L. Keenan, MD, Qingyu Chen, PhD, Tharindu De Silva, PhD, Alisa T. Thavikulwat, MD, Geoffrey Broadhead, MD, Sanjeeb Bhandari, MD, Catherine Cukras, MD, Emily Y. Chew, MD, Zhiyong Lu, PhD
Published 2021-09-01