Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

Adam C. Gunning, Klaudia Strucinska, Oreja M Muñoz, Andrew Parrish, Richard Caswell, Karen L. Stals, Romina Durigon, Karina Durlacher-Betzer, Mitchell H. Cunningham, Christopher M. Grochowski, Julia Baptista, Carolyn Tysoe, Emma Baple, Nayana Lahiri, Tessa Homfray, Ingrid Scurr, Catherine Armstrong, John Dean, Pelayo U Fernandez, Aleck W.E. JonesRobert W. Taylor, Vinod K. Misra, Wan Hee Yoon, Caroline F. Wright, James R. Lupski, Antonella Spinazzola, Tamar Harel, Ian J. Holt, Sian Ellard*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)272-279
Number of pages0
JournalThe American Journal of Human Genetics
Volume106
Issue number2
DOIs
Publication statusPublished - Feb 2020

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