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ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder

Manuscript ID: 10180

Submitting Author
Minster, Ryan L
Submitting Author's Email
rminster@pitt.edu
Authors
Mariella T. Simon, Shaina S Eftekharian, Sacha Ferdinandusse, Sha Tang, Take Naseri, Muagututi‘a Sefuiva Reupena, Stephen T. McGarvey, Ryan L. Minster, Daniel E. Weeks, the Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group, Daniel D. Nguyen, Sansan Lee, Katarzyna Ellsworth, Frédéric M. Vaz, David Dimmock, James Pitt and Jose E. Abdenur
Journal name for most current submission
American Journal of Medical Genetics Part A
Associated TOPMed paper proposal
A common variant in the short-chain enoyl-CoA hydratase gene ECHS1 contributes to a Leigh like syndrome in two unrelated families of Samoan descent
This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI" *
This manuscript has been approved by the original paper proposal's Working Group(s) or is "single PI"
Acknowledgments
I have followed instructions for TOPMed Acknowledgments
I've received approval for all data sets used in this manuscript, including adding new data sets and canceling all unused ones. *
I've received approval for all data sets used in this manuscript, including adding new data sets and canceling all unused ones.
I have followed the Data Use Limitations for each of the data sets used in this manuscript, if applicable. *
Yes
I've included at least 1 co-author from each study used in analysis or the PI declined an offer to have their study represented. *
Yes
I certify that all co-authors have reviewed and approved the manuscript for submission. *
Yes
I've included at least 1 DCC/ACC author, or they declined authorship or deemed acknowledgement sufficient.
I've included at least 1 DCC/ACC author, or they declined authorship or deemed acknowledgement sufficient.
I’ve included at least 1 IRC author, or they declined authorship or deemed acknowledgement sufficient.
I’ve included at least 1 IRC author, or they declined authorship or deemed acknowledgement sufficient.
I've included at least 1 author from relevant omics center(s) or they declined authorship or deemed acknowledgement sufficient.
I've included at least 1 author from relevant omics center(s) or they declined authorship or deemed acknowledgement sufficient.

TOPMed data used in this manuscript

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Parent Study: Consent Group Review Status Actions
Samoan:GRU-IRB-PUB-COL-NPU-GSO Approved