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Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R. Chi YI, et al. Among authors: basel dg. Orphanet J Rare Dis. 2021 Feb 5;16(1):66. doi: 10.1186/s13023-021-01692-w. Orphanet J Rare Dis. 2021. PMID: 33546721 Free PMC article.
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Gupta A, et al. Eur J Med Genet. 2020 Apr;63(4):103817. doi: 10.1016/j.ejmg.2019.103817. Epub 2019 Nov 25. Eur J Med Genet. 2020. PMID: 31778854
Correction to: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R. Chi YI, et al. Among authors: basel dg. Orphanet J Rare Dis. 2021 Jun 1;16(1):247. doi: 10.1186/s13023-021-01892-4. Orphanet J Rare Dis. 2021. PMID: 34074320 Free PMC article. No abstract available.
Cyanosis in a Previously Well Child.
Bhat MA, Plunk MR, Basel DG, Hanson SJ. Bhat MA, et al. Among authors: basel dg. Pediatr Rev. 2021 Nov;42(11):619-624. doi: 10.1542/pir.2020-002055. Pediatr Rev. 2021. PMID: 34725222 No abstract available.
Dysmorphology in a Genomic Era.
Basel D. Basel D. Clin Perinatol. 2020 Mar;47(1):15-23. doi: 10.1016/j.clp.2019.10.009. Epub 2019 Oct 31. Clin Perinatol. 2020. PMID: 32000922 Review.
Mitochondrial DNA Depletion Syndromes.
Basel D. Basel D. Clin Perinatol. 2020 Mar;47(1):123-141. doi: 10.1016/j.clp.2019.10.008. Epub 2019 Oct 31. Clin Perinatol. 2020. PMID: 32000920 Review.
71 results