Expansion of -Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

by Nicole J. Boczek, Erica L. Macke, Jennifer Kemppainen, Eric W. Klee, Deborah L. Renaud, Ralitza H. Gavrilova
Published 2020-10-01

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
Published 2016-01-01

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome

by Michael T. Zimmermann, Raul A. Urrutia, Patrick R. Blackburn, Margot A. Cousin, Nicole J. Boczek, Eric W. Klee, Colleen Macmurdo, Paldeep S. Atwal
Published 2017-01-01

A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.

by Jessica A Hennessey, Nicole J Boczek, Yong-Hui Jiang, Joelle D Miller, William Patrick, Ryan Pfeiffer, Brittan S Sutphin, David J Tester, Hector Barajas-Martinez, Michael J Ackerman, Charles Antzelevitch, Ronald Kanter, Geoffrey S Pitt
Published 2014-01-01

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

by Filippo Pinto Vairo, Nicole J. Boczek, Margot A. Cousin, Charu Kaiwar, Patrick R. Blackburn, Erin Conboy, Brendan C. Lanpher, Ralitza H. Gavrilova, Pavel N. Pichurin, Konstantinos N. Lazaridis, Dusica Babovic-Vuksanovic, Eric W. Klee
Published 2017-12-01

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

by Jan B Egan, Michael T Barrett, Mia D Champion, Sumit Middha, Elizabeth Lenkiewicz, Lisa Evers, Princy Francis, Jessica Schmidt, Chang-Xin Shi, Scott Van Wier, Sandra Badar, Gregory Ahmann, K Martin Kortuem, Nicole J Boczek, Rafael Fonseca, David W Craig, John D Carpten, Mitesh J Borad, A Keith Stewart
Published 2014-01-01