Tonya Moss

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

Francesca Cristofoli, Tonya Moss, Hannah W. Moore et al. · The American Journal of Human Genetics · 2020 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Deletion of the immunoglobulin domain of <i>IL1RAPL1</i> results in nonsyndromic X‐linked intellectual disability associated with behavioral problems and mild dysmorphism

Karl J. Franek, Julia Butler, John P. Johnson et al. · American Journal of Medical Genetics Part A · 2011 · 41 citations

Life Sciences, Genetics, Molecular Genetics +17

Functional analysis of a novel mutation in the <i>TIMM8A</i> gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Addison Neighbors, Tonya Moss, Lynda Holloway et al. · Molecular Genetics & Genomic Medicine · 2020 · 24 citations · Full text

Life Sciences, Genetics, Neurology +17

Functional assessment of homozygous <i>ALDH18A1</i> variants reveals alterations in amino acid and antioxidant metabolism

Maxwell B. Colonna, Tonya Moss, Sneha S. Mokashi et al. · Human Molecular Genetics · 2022 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked <i>AIFM1</i> variant

Tonya Moss, Melanie May, Heather Flanagan‐Steet et al. · Molecular Case Studies · 2021 · 12 citations · Full text

Life Sciences, Genetics, Pathology +17