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Research articles

These selected articles are shared with the permission of authors and publishers.

Dr. Bryn Webb and Vicki McCarrell wrote and article for the Rare Neurological Disease Special Report supplement for Neurology Reviews to help raise awareness about Moebius Syndrome and the Moebius Syndrome Foundation. You can read the article here.

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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome
Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli & Elizabeth C. Engle. Nature Communications volume 8, Article number: 16077 (2017) To read the article, click here.

To read the PDF of this article, click here.


Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome. Aida Telegrafi Bryn D. Webb Sarah M. Robbins Carlos E. Speck‐Martins David FitzPatrick Leah Fleming Richard Redett Andreas Dufke Gunnar Houge Jeske J. T. van Harssel Alain Verloes Angela Robles Irini Manoli Elizabeth C. Engle Moebius Syndrome Research Consortium Ethylin W. Jabs David Valle John Carey Julie E. Hoover‐Fong Nara L. M. Sobreira
American Journal of Medical Genetics Part AVolume 173, Issue 10. To read the abstract, click here.


Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology. Caffarelli C, Santamaria F, Di Mauro D, Mastrorilli C, Montella S, Bernasconi S. To read the abstract, click here.

 


 

“Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius 2 syndrome,” Sarah MacKinnon, MSc, OC(C), Darren T. Oystreck, MMedSci, OC(C), Caroline Andrews, MS4, Wai-Man Chan, MS4, David G. Hunter, MD, PhD, and Elizabeth C. Engle, MD. Ophthalmology.

To read the PDF of this article, click here.

 


 

“HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1/ Mice”  Bryn D. Webb, Sherin Shaaban, Harald Gaspar, Luis F. Cunha, Christian R. Schubert, Ke Hao, Caroline D. Robson, Wai-Man Chan, Caroline Andrews, Sarah MacKinnon, Darren T. Oystreck, David G. Hunter, Anthony J. Iacovelli, Xiaoqian Ye, Anne Camminady, Elizabeth C. Engle,* and Ethylin Wang Jabs. The American Journal of Human Genetics 91, 171–179, July 13, 2012.

To read the PDF of this article, click here.

 


 

Mirror Movements Identified in Patients with Moebius Syndrome Bryn D. Webb, Tamiesha Frempong, Thomas P. Naidich, Harald Gaspar, Ethylin Wang Jabs, Janet C. Rucker Case Reports July 22, 2014 Tremor and Other Hyperkinetic Movements

To download a PDF of this article, click here.

To read the article online, click here.


 

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes Janet C. Rucker,1,2 Bryn D. Webb,3,4 Tamiesha Frempong,2 Harald Gaspar,3,5 Thomas P. Naidich6,7 and Ethylin Wang Jabs. Brain 2014.

To read a PDF of this article, click here.


 

Bogart, K. R., Tickle-Degnen, L., & Joffe, M. (2012). Social interaction experiences of adults with Moebius syndrome: A focus group. Journal of Health Psychology, 17(8), 1212-1222

To download a PDF of this article, click here.


 

Bogart, K. R. (2014). “People are all about appearances”: A focus group of teenagers with Moebius Syndrome. Journal of Health Psychology

To download a PDF of this article, click here.


 

Bogart, K. R., Tickle-Degnen, L., & Ambady, N. (2014). Communicating without the face: Holistic perception of emotions of people with facial paralysis. Basic and Applied Social Psychology, 36 (4), 309-320.

To download a PDF of this article, click here.


 

The Mystery of the Missing Smile, by Greg Miller, Science 11 May 2007: Vol. 316 no. 5826 pp. 826-827

To view this article, click here.

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