Research output per year
Research output per year
Personal profile
Research interests
I am a Certified Genetic Counselor and the Associate Director of the Program in Genetic Counseling. I am interested in the return of research results related to genetic testing, neurogenetics and public health genetics and genomics.
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Collaborations and top research areas from the last five years
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Single-Gene Deletion of FGF3 in a Patient With Features of 11q13 Microdeletion Syndrome
Rahi, H., Dickson, P. I., Toler, T. L., Corliss, M. M. & Cao, Y., Jun 2025, In: American Journal of Medical Genetics, Part A. 197, 6, e64025.Research output: Contribution to journal › Article › peer-review
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Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors
Sagaser, K. G., Malinowski, J., Westerfield, L., Proffitt, J., Hicks, M. A., Toler, T. L., Blakemore, K. J., Stevens, B. K. & Oakes, L. M., Jun 2023, In: Journal of Genetic Counseling. 32, 3, p. 540-557 18 p.Research output: Contribution to journal › Article › peer-review
Open Access47 Scopus citations -
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, P., Duque Lasio, M. L., Magistrati, M., Pathak, S., Sample, B., Carvalho, D. R., Ortega, A. B., Castro, M. A. A., de Gusmao, C. M., Toler, T. L., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2023, In: Molecular genetics and metabolism. 139, 4, 107630.Research output: Contribution to journal › Article › peer-review
10 Scopus citations -
Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death
Singh, P., Amaro, D., Obi, O., Kiran, F. N. U., Hediger, E., Toler, T. L., Dickson, P. I. & Grange, D. K., Jul 2023, In: JIMD Reports. 64, 4, p. 261-264 4 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
Lines, M. A., Cuillerier, A., Chakraborty, P., Naas, T., Duque Lasio, M. L., Michaud, J., Pileggi, C., Harper, M. E., Burelle, Y., Toler, T. L., Sondheimer, N., Crawford, H. P., Millan, F. & Geraghty, M. T., Nov 2021, In: European Journal of Human Genetics. 29, 11, p. 1719-1724 6 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations