Research output per year
Research output per year
Personal profile
Research interests
I use computational structural biology to help biomedical researchers approach their question from a molecular viewpoint. I can contribute a mechanistic hypothesis, structural analysis, or the interpretation of experimental results in the context of a protein’s structure-function relationship.
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Collaborations and top research areas from the last five years
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Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1-related RASopathy
The Undiagnosed Diseases Network, Jan 2025, In: American Journal of Medical Genetics, Part A. 197, 1, e63854.Research output: Contribution to journal › Article › peer-review
Open Access -
Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model
Sinclair, M., Stein, R. A., Sheehan, J. H., Hawes, E. M., O'Brien, R. M., Tajkhorshid, E. & Claxton, D. P., Feb 1 2024, In: PNAS Nexus. 3, 2, pgae036.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition
The Undiagnosed Diseases Network, Dec 2024, In: Molecular Genetics and Metabolism Reports. 41, 101145.Research output: Contribution to journal › Article › peer-review
Open Access -
A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype
Tinker, R. J., Guess, T., Rinker, D. C., Sheehan, J. H., Lubarsky, D., Porath, B., Mosera, M., Mayo, P., Solem, E., Lee, L. A., Sharam, A. & Brault, J., Dec 2022, In: Molecular Genetics and Genomic Medicine. 10, 12, e2054.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
Undiagnosed Diseases Network, Oct 13 2022, In: Human Genetics and Genomics Advances. 3, 4, 100131.Research output: Contribution to journal › Article › peer-review
Open Access6 Scopus citations