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Tonya Moss
Tonya Moss
Biology
Genetics
Mutation
Missense mutation
Mitochondrion
4
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42
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Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.
2021
Tonya Moss
Melanie May
Heather Flanagan-Steet
Raymond Caylor
Yong-hui Jiang
Marie T. McDonald
Michael J. Friez
Allyn McConkie Rosell
Richard Steet
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De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.
2020
American Journal of Human Genetics
Francesca Cristofoli
Tonya Moss
Hannah W. Moore
Koen Devriendt
Heather Flanagan-Steet
Melanie May
Julie M. Jones
Filip Roelens
Carmen Fons
Anna Fernández
Loreto Martorell
Angelo Selicorni
Silvia Maitz
Giuseppina Vitiello
Gerd Van der Hoeven
Steven A. Skinner
Mathieu Bollen
Joris Vermeesch
Richard Steet
Hilde Van Esch
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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome
2020
Molecular Genetics & Genomic Medicine
Addison Neighbors
Tonya Moss
Lynda Holloway
Seok-Ho Yu
Fran Annese
Steve A. Skinner
Russell P. Saneto
Richard Steet
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Citations (3)
Deletion of the Immunoglobulin Domain of IL1RAPL1 Results in Nonsyndromic X-Linked Intellectual Disability Associated With Behavioral Problems and Mild Dysmorphism
2011
American Journal of Medical Genetics Part A
Karl J Franek
Julia Butler
John P. Johnson
Richard J. Simensen
Michael J. Friez
Frank Bartel
Tonya Moss
Barbara R. DuPont
Katherine Berry
Margaret L. Bauman
Cindy Skinner
Roger E. Stevenson
Charles E. Schwartz
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Citations (30)
1