The paper introduces a pedigree-aware workflow using pangenome graphs to improve variant calling in rare disease analysis, detecting more deleterious variants in probands than unaffected siblings.

Genome Research · Apr 28, 2022Peer-reviewedBioinformatics

Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

Andressa Mota, Rui Hong, Sheng-Yong Niu, Féodora L. Bertherat, Lynne A. Wolfe, Christine May Malicdan, Thomas C. Markello, David R. Adams, William Allen Gahl, Christine S. Cheng, Uwe Beffert, Angela Ho

The paper identifies a de novo FOXR1 variant causing microcephaly and brain atrophy by impairing stress response pathways.

bioRxiv · Nov 3, 2020 · PreprintMolecular Biology

Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan‐Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung‐Goo Kim, Lynne A. Wolfe, Joshi A. Stephen, David R. Adams, Thomas C. Markello, Cynthia J. Tifft, Robert E. Settlage, , Y. Albert Pan

This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.

Disease Models & Mechanisms · Jan 1, 2020Peer-reviewedDevelopmental Biology