Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Title:
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Author:
Gunning, Adam C. Strucinska, Klaudia Muñoz Oreja, Mikel Parrish, Andrew Caswell, Richard Stals, Karen L. Durigon, Romina Durlacher-Betzer, Karina Cunningham, Mitchell H. Grochowski, Christopher M. Baptista, Julia Tysoe, Carolyn Baple, Emma Lahiri, Nayana Homfray, Tessa Scurr, Ingrid Armstrong, Catherine Dean, John Fernandez Pelayo, Uxoa Jones, Aleck W.E. Taylor, Robert W. Misra, Vinod K. Yoon, Wan Hee Wright, Caroline F. Lupski, James R. Spinazzola, Antonella Harel, Tamar Holt, Ian J. Ellard, Sian