Research output per year
Research output per year
Search results
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2023
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
Lasio, M. L. D., Leshinski, A. C., Ducich, N. H., Flore, L. A., Lehman, A., Shur, N., Jayakar, P. B., Hainline, B. E., Basinger, A. A., Wilson, W. G., Diaz, G. A., Erbe, R. W., Koeberl, D. D., Vockley, J. & Bedoyan, J. K., Jun 2023, In: Molecular genetics and metabolism. 139, 2, 107605.Research output: Contribution to journal › Article › peer-review
Open Access -
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
8 Scopus citations -
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
Starosta, R. T., Kerashvili, N., Pruitt, C., Schultz, M. J., Boyer, S. W., Morava, E., Lasio, M. L. D. & Grange, D. K., Nov 2023, In: JIMD Reports. 64, 6, p. 424-433 10 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Words matter: The language of difference in human genetics
Cho, M. K., Duque Lasio, M. L., Amarillo, I., Mintz, K. T., Bennett, R. L. & Brothers, K. B., Mar 2023, In: Genetics in Medicine. 25, 3, 100343.Research output: Contribution to journal › Article › peer-review
Open Access15 Scopus citations -
2021
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
4 Scopus citations -
2020
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants
Kulkarni, S., Abro, B., Duque Lasio, M. L., Stoll, J., Grange, D. K. & He, M., Jun 1 2020, In: Pediatric and Developmental Pathology. 23, 3, p. 235-239 5 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Guenzel, A. J., Turgeon, C. T., Nickander, K. K., White, A. L., Peck, D. S., Pino, G. B., Studinski, A. L., Prasad, V. K., Kurtzberg, J., Escolar, M. L., Lasio, M. L. D., Pellegrino, J. E., Sakonju, A., Hickey, R. E., Shallow, N. M., Ream, M. A., Orsini, J. J., Gelb, M. H., Raymond, K. & Gavrilov, D. K. & 4 others, , Jun 1 2020, In: Genetics in Medicine. 22, 6, p. 1108-1118 11 p.Research output: Contribution to journal › Article › peer-review
Open Access50 Scopus citations