Laura Duque Lasio

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 Access

1 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 Access

15 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, Oglesbee, D., Rinaldo, P., Tortorelli, S. & Matern, D., Jun 1 2020, In: Genetics in Medicine. 22, 6, p. 1108-1118 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

50 Scopus citations

2018

Elastin-driven genetic diseases

Duque Lasio, M. L. & Kozel, B. A., Oct 2018, In: Matrix Biology. 71-72, p. 144-160 17 p.

Research output: Contribution to journal › Review article › peer-review

83 Scopus citations

Laura Duque Lasio

Research output

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