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 (https://geneticcounseling.wustl.edu/). I am interested in research related to the process of Genetic Counseling and the return of research results.
Fingerprint
Dive into the research topics where Tomi Toler is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
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 Access15 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
6 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
1 Scopus citations -
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)
Care4Rare Canada Consortium, Apr 2021, In: Genetics in Medicine. 23, 4, p. 796 1 p.Research output: Contribution to journal › Comment/debate
Open Access1 Scopus citations -
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Care4Rare Canada Consortium, Apr 2021, In: Genetics in Medicine. 23, 4, p. 653-660 8 p.Research output: Contribution to journal › Article › peer-review
Open Access21 Scopus citations