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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: gabriel l. Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27. Physiol Genomics. 2017. PMID: 28130426 Free PMC article.
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: gabriel l. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M. Chiang PW, et al. Nat Genet. 2012 Sep;44(9):972-4. doi: 10.1038/ng.2370. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842231
The structure of the tetraploid sour cherry 'Schattenmorelle' (Prunus cerasus L.) genome reveals insights into its segmental allopolyploid nature.
Wöhner TW, Emeriewen OF, Wittenberg AHJ, Nijbroek K, Wang RP, Blom EJ, Schneiders H, Keilwagen J, Berner T, Hoff KJ, Gabriel L, Thierfeldt H, Almolla O, Barchi L, Schuster M, Lempe J, Peil A, Flachowsky H. Wöhner TW, et al. Among authors: gabriel l. Front Plant Sci. 2023 Dec 1;14:1284478. doi: 10.3389/fpls.2023.1284478. eCollection 2023. Front Plant Sci. 2023. PMID: 38107002 Free PMC article.
Unmasking Pandemic Echoes: An In-Depth Review of Long COVID's Unabated Cardiovascular Consequences beyond 2020.
Luchian ML, Higny J, Benoit M, Robaye B, Berners Y, Henry JP, Colle B, Xhaët O, Blommaert D, Droogmans S, Motoc AI, Cosyns B, Gabriel L, Guedes A, Demeure F. Luchian ML, et al. Among authors: gabriel l. Diagnostics (Basel). 2023 Nov 2;13(21):3368. doi: 10.3390/diagnostics13213368. Diagnostics (Basel). 2023. PMID: 37958264 Free PMC article. Review.
Galba: genome annotation with miniprot and AUGUSTUS.
Brůna T, Li H, Guhlin J, Honsel D, Herbold S, Stanke M, Nenasheva N, Ebel M, Gabriel L, Hoff KJ. Brůna T, et al. Among authors: gabriel l. BMC Bioinformatics. 2023 Aug 31;24(1):327. doi: 10.1186/s12859-023-05449-z. BMC Bioinformatics. 2023. PMID: 37653395 Free PMC article.
264 results