Interpretation challenges of novel dual‐class missense and splice‐impacting variant in POLR3A‐related late‐onset hereditary spastic ataxia

by Joel A. Morales‐Rosado, Erica L. Macke, Margot A. Cousin, Gavin R. Oliver, Radhika Dhamija, Eric W. Klee
Published 2020-09-01

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation...

by Michael T Zimmermann, Raul Urrutia, Gavin R Oliver, Patrick R Blackburn, Margot A Cousin, Nicole J Bozeck, Eric W Klee
Published 2017-01-01

Larval zebrafish model for FDA-approved drug repositioning for tobacco dependence treatment.

by Margot A Cousin, Jon O Ebbert, Amanda R Wiinamaki, Mark D Urban, David P Argue, Stephen C Ekker, Eric W Klee
Published 2014-01-01

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

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties

by Michael T. Zimmermann, Michael T. Zimmermann, Raul Urrutia, Raul Urrutia, Margot A. Cousin, Gavin R. Oliver, Gavin R. Oliver, Eric W. Klee, Eric W. Klee
Published 2018-07-01

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.

by Gavin R Oliver, Xiaojia Tang, Laura E Schultz-Rogers, Noemi Vidal-Folch, W Garrett Jenkinson, Tanya L Schwab, Krutika Gaonkar, Margot A Cousin, Asha Nair, Shubham Basu, Pritha Chanana, Devin Oglesbee, Eric W Klee
Published 2019-01-01

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

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

by Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Published 2021-05-01