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Elastin-driven genetic diseases.
Duque Lasio ML, Kozel BA. Duque Lasio ML, et al. Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28. Matrix Biol. 2018. PMID: 29501665 Free PMC article. Review.
Pyruvate Carboxylase Deficiency.
Duque Lasio ML, Lehman AN, Ahmad A, Bedoyan JK. Duque Lasio ML, et al. 2009 Jun 2 [updated 2024 May 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Jun 2 [updated 2024 May 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301764 Free Books & Documents. Review.
Words matter: The language of difference in human genetics.
Cho MK, Duque Lasio ML, Amarillo I, Mintz KT, Bennett RL, Brothers KB. Cho MK, et al. Among authors: duque lasio ml. Genet Med. 2023 Mar;25(3):100343. doi: 10.1016/j.gim.2022.11.011. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36524987 Free PMC article.
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.
Wongkittichote P, Duque Lasio ML, Magistrati M, Pathak S, Sample B, Carvalho DR, Ortega AB, Castro MAA, de Gusmao CM, Toler TL, Bellacchio E, Dallabona C, Shinawi M. Wongkittichote P, et al. Among authors: duque lasio ml. Mol Genet Metab. 2023 Aug;139(4):107630. doi: 10.1016/j.ymgme.2023.107630. Epub 2023 Jun 22. Mol Genet Metab. 2023. PMID: 37392700
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. Guenzel AJ, et al. Among authors: lasio mld. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546 Free article.