Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F by Boycott, Kym M., PhD, Pearce, William G., MD, Bech-Hansen, N. Torben, PhD

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Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L by Yoon, Grace, MD, Malam, Zeenat, PhD, Paton, Tara, PhD, Marshall, Christian R., PhD, Hyatt, Ella, BSc, Ivakine, Zhenya, PhD, Scherer, Stephen W., PhD, Lee, Kyong-Soon, MD, Hawkins, Cynthia, MD, PhD, Cohn, Ronald D., MD

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Exome Sequencing Identifies a Novel Variant in ACTC1 Associated With Familial Atrial Septal Defect by Greenway, Steven C., MD, McLeod, Ross, MD, Hume, Stacey, PhD, Roslin, Nicole M., MSc, Alvarez, Nanette, MD, Giuffre, Michael, MD, Zhan, Shing H., BSc, Shen, Yaoqing, PhD, Preuss, Christoph, PhD, Andelfinger, Gregor, MD, PhD, Jones, Steven J.M., PhD, Gerull, Brenda, MD

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