Tonya Moss

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

C. Skinner, R. Stevenson, C. Schwartz, 2011, American journal of medical genetics. Part A.

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

S. Skinner, R. Saneto, R. Steet, 2020, Molecular genetics & genomic medicine.

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

M. Friez, M. McDonald, M. May, 2021, Cold Spring Harbor molecular case studies.

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

K. Devriendt, J. Vermeesch, M. Bollen, 2020, American journal of human genetics.

Functional Assessment of Homozygous ALDH18A1 Variants Reveals Alterations in Amino Acid and Antioxidant Metabolism.

C. Skinner, A. Edison, S. Srikanth, 2022, Human molecular genetics.