Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation by Erin Conboy, Filippo Vairo, Darrel Waggoner, Carole Ober, Soma Das, Radhika Dhamija, Eric W. Klee, Pavel Pichurin

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Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C) by Abhisek Swaika, Nicole J. Boczek, Neha Sood, Kimberly Guthrie, Eric W. Klee, Ankit Agrawal, Elliot L. Dimberg, Sikander Ailawadhi

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A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1 by Joseph Farris, Camila Dergam-Larson, Madeline Lopour, Kahlen Darr, Lisa A. Schimmenti, Brittni A. Scruggs, Laura J. Lambert, Eric W. Klee

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Phenotypic Presentation and Longitudinal Characterization of Hereditary ATTRv Amyloidosis in Previously Undiagnosed Family Members by Luca Fazzini, MD, Matteo Castrichini, MD, Yan Li, PhD, Jose De Melo, Jr., MD, Marta Figueiral, MD, Jenny J. Cao, MB, Eric W. Klee, MD, Christian Cadeddu Dessalvi, MD, PhD, Martha Grogan, MD, Angela Dispenzieri, MD, Naveen L. Pereira, MD

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Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome. by Michael A Pickart, Eric W Klee, Aubrey L Nielsen, Sridhar Sivasubbu, Eric M Mendenhall, Brent R Bill, Eleanor Chen, Craig E Eckfeldt, Michelle Knowlton, Mara E Robu, Jon D Larson, Yun Deng, Lisa A Schimmenti, Lynda B M Ellis, Catherine M Verfaillie, Matthias Hammerschmidt, Steven A Farber, Stephen C Ekker

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