Below is a selection of research articles on Moebius syndrome. The Moebius Syndrome Foundation has funded more than $1.3 million (USD) in research towards the condition.
You may also want to search the NIH National Library of Medicine PubMed database for the topic “Moebius syndrome” for additional research articles.
Please note that some of these articles may be behind a paywall due to the publisher’s policies.
GENETICS
2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai-Man Chan, Elke de Boer, Sarah J. Garnai, Brenda J. Barry, Tammy Ray, Michael Kosicki, Caroline D. Robson, Zhongyang Zhang, Thomas E. Collins, Alon Gelber, Brandon M. Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E. Warburton, Carol Van Ryzin, Tanya J. Lehky, Christopher Zalewski, Kelly A. King, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Flavia M. Facio, Narisu Narisu, Lori L. Bonnycastle, Amy Swift, Peter S. Chines, Jessica L. Bell, Suresh Mohan, Mary C. Whitman, Sandra E. Staffieri, James E. Elder, Joseph L. Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary Boustany, David A. Mackey, Angela F. Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W. Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H. Orkin, Stephen C. J. Parker, Tessa A. Hadlock, Lisenka E. L. M. Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S. Collins, Len A. Pennacchio, Irini Manoli, & Elizabeth C. Engle
Nature Genetics
This research was funded by the Moebius Syndrome Foundation.
PSYCHOLOGY
2023
Disclosing the obvious: Psychosocial implications of (not) explaining facial differences
Kathleen R. Bogart, Brooke A. Bryson, Diana Harcourt
Body Image, Volume 46, September 2023, Pages 91-102
The following article summarizes the journal article.
Disclosing the Obvious: Explaining Facial Differences
This research was funded by the Moebius Syndrome Foundation.
PSYCHOLOGY
2022
“The Elephant in the Room”: Disclosing Facial Differences
Bogart, K. R., Bryson, B. A., Plackowski, E. F., and Sharratt, N. D.
Stigma and Health
The following two articles are summaries of the journal article, written in a more user-friendly manner.
The Elephant in the Room: Explaining Facial Difference (Part 1)
Explaining Facial Difference: To Disclose or Not Disclose (Part 2)
This research was funded in part by the Moebius Syndrome Foundation.
PEDIATRICS
2022
A Comparison of The Socialization of Children with Moebius Syndrome: The Effects of Access to Treatments
Greatness Adewumi
Journal of Novel Physiotherapies
GENERAL
2022
Degenerate pathway for processing smile and other emotional expressions in congenital facial palsy: an hdEEG investigation
Paola Sessa, Arianna Schiano Lomoriello, Gian Marco Duma, Giovanni Mento, Elisa De Stefani, and Pier Francesco Ferrari
Philosophical Transactions B
GENERAL
2021
The epidemiology of Moebius syndrome in Italy
Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolf, and Paolo Mora
Orphanet Journal of Rare Diseases
PEDIATRICS/ORTHOPEDICS
2021
Surgical Treatment of Clubfoot in Children with Moebius Syndrome
Maurizio De Pellegrin, Lorenzo Marcucci, Lorenzo Brogioni, and Giovanni Prati
Children
NEUROLOGY/PLASTICS
2021
A New Neurorehabilitative Postsurgery Intervention for Facial Palsy Based on Smile Observation and Hand-Mouth Motor Synergies
Elisa De Stefani, Anna Barbot, Chiara Bertolini, Mauro Belluardo, Gioacchino Garofalo, Nicola Bruno, Bernardo Bianchi, Andrea Ferri, and Pier Francesco Ferrari
Hindawi Neural Plasticity
PEDIATRICS/PSYCHOLOGY
2020
A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome
Matthew Hotton, Esme Huggons, Claire Hamlet, Kathleen Bogart, David Johnson, Jonathan H. Norris, Sarah Kilcoyne, and Louise Dalton
International Journal of Environmental Research and Public Health
NEUROSCIENCE
2020
Efficient recognition of facial expressions does not require motor simulation
Gilles Vannuscorps, Michael Andres, and Alfonso Caramazza
eLife 9:e54687
GENERAL
2019
An Overview of Moebius Syndrome: Diagnosis, Supportive Treatment, and Valuable Community Resources
Bryn Webb, M.D. and Vicki McCarrell
Rare Neurological Disease Special Report supplement for Neurology Reviews
GENETICS
2019
Congenital facial palsy and emotion processing: The case of Moebius syndrome
Elisa De Stefani, Ylenia Nicolini, Mauro Belluardo, and Pier Francesco Ferrari
Genes, Brain, and Behavior
GENETICS
2017
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)
GENETICS
2017
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, and Nara L. M. Sobreira
American Journal of Medical Genetics Part A Volume 173, Issue 10.
PEDIATRICS
2017
Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology.
Carolo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, and Sergio Bernasconi
Italian Journal of Pediatrics September 16, 2017;43(1):80.
NEUROLOGY/PLASTICS
2017
A proposal for new neurorehabilitative intervention on Moebius Syndrome patients after ‘smile surgery’. Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity
NEUROLOGY
2014
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
Janet C. Rucker, Bryn D. Webb, Tamiesha Frempong, Harald Gaspar, Thomas P. Naidich, and Ethylin Wang Jabs.
Brain
GENERAL
2014
Mirror Movements Identified in Patients with Moebius Syndrome
Bryn D. Webb, Tamiesha Frempong, Thomas P. Naidich, Harald Gaspar, Ethylin Wang Jabs, and Janet C. Rucker
Tremor and Other Hyperkinetic Movements, July 22, 2014
PSYCHOLOGY
2014
Communicating without the face: Holistic perception of emotions of people with facial paralysis
Kathleen Bogart, Linda Tickle-Degnen, and Nalini Ambady
Basic and Applied Social Psychology, 36 (4), 309-320.
PSYCHOLOGY
2014
“People are all about appearances”: A focus group of teenagers with Moebius Syndrome.
Kathleen R. Bogart
Journal of Health Psychology
GENETICS
2014
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, M.D., Ph.D.; and Elizabeth C. Engle, M.D.
Ophthalmology, 2014 Jul;121(7):1461-8.
PSYCHOLOGY
2012
Social interaction experiences of adults with Moebius syndrome: A focus group
Kathleen R. Bogart, Linda Tickle-Degnen, and Matthew S. Joffe
Journal of Health Psychology, 17(8), 1212-1222
GENETICS
2012
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.
GENERAL
2007
The Mystery of the Missing Smile
Greg Miller
Science Vol. 316 no. 5826 pp. 826-827, May 11, 2007