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Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Sok P, Sabo A, Almli LM, Jenkins MM, Nembhard WN, Agopian AJ, Bamshad MJ, Blue EE, Brody LC, Brown AL, Browne ML, Canfield MA, Carmichael SL, Chong JX, Dugan-Perez S, Feldkamp ML, Finnell RH, Gibbs RA, Kay DM, Lei Y, Meng Q, Moore CA, Mullikin JC, Muzny D, Olshan AF, Pangilinan F, Reefhuis J, Romitti PA, Schraw JM, Shaw GM, Werler MM, Harpavat S, Lupo PJ; University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study. Sok P, et al. Among authors: mullikin jc. Am J Med Genet A. 2023 Jun;191(6):1546-1556. doi: 10.1002/ajmg.a.63185. Epub 2023 Mar 21. Am J Med Genet A. 2023. PMID: 36942736
Expanded microbiome niches of RAG-deficient patients.
Blaustein RA, Shen Z, Kashaf SS, Lee-Lin S, Conlan S; NISC Comparative Sequencing Program; Bosticardo M, Delmonte OM, Holmes CJ, Taylor ME, Banania G, Nagao K, Dimitrova D, Kanakry JA, Su H, Holland SM, Bergerson JRE, Freeman AF, Notarangelo LD, Kong HH, Segre JA. Blaustein RA, et al. Cell Rep Med. 2023 Oct 17;4(10):101205. doi: 10.1016/j.xcrm.2023.101205. Epub 2023 Sep 26. Cell Rep Med. 2023. PMID: 37757827 Free PMC article.
The genome of the colonial hydroid Hydractinia reveals that their stem cells use a toolkit of evolutionarily shared genes with all animals.
Schnitzler CE, Chang ES, Waletich J, Quiroga-Artigas G, Wong WY, Nguyen AD, Barreira SN, Doonan LB, Gonzalez P, Koren S, Gahan JM, Sanders SM, Bradshaw B, DuBuc TQ, Febrimarsa, de Jong D, Nawrocki EP, Larson A, Klasfeld S, Gornik SG, Moreland RT, Wolfsberg TG, Phillippy AM, Mullikin JC, Simakov O, Cartwright P, Nicotra M, Frank U, Baxevanis AD. Schnitzler CE, et al. Among authors: mullikin jc. Genome Res. 2024 Apr 25;34(3):498-513. doi: 10.1101/gr.278382.123. Genome Res. 2024. PMID: 38508693 Free PMC article.
Random forest classifiers trained on simulated data enable accurate short read-based genotyping of structural variants in the alpha globin region at Chr16p13.3.
Hansen NF, Wang X, Tegegn MB, Liu Z, Gouveia MH, Hill G, Lin JC, Okulosubo T, Shriner D, Thein SL, Mullikin JC. Hansen NF, et al. Among authors: mullikin jc. bioRxiv [Preprint]. 2023 Nov 27:2023.11.27.568683. doi: 10.1101/2023.11.27.568683. bioRxiv. 2023. PMID: 38076833 Free PMC article. Preprint.
A genome catalog of the early-life human skin microbiome.
Shen Z, Robert L, Stolpman M, Che Y, Allen KJ, Saffery R, Walsh A, Young A, Eckert J, Deming C, Chen Q, Conlan S, Laky K, Li JM, Chatman L, Kashaf SS; NISC Comparative Sequencing Program; VITALITY team; Kong HH, Frischmeyer-Guerrerio PA, Perrett KP, Segre JA. Shen Z, et al. Genome Biol. 2023 Nov 10;24(1):252. doi: 10.1186/s13059-023-03090-w. Genome Biol. 2023. PMID: 37946302 Free PMC article.
The genome of the colonial hydroid Hydractinia reveals their stem cells utilize a toolkit of evolutionarily shared genes with all animals.
Schnitzler CE, Chang ES, Waletich J, Quiroga-Artigas G, Wong WY, Nguyen AD, Barreira SN, Doonan L, Gonzalez P, Koren S, Gahan JM, Sanders SM, Bradshaw B, DuBuc TQ, Febrimarsa, de Jong D, Nawrocki EP, Larson A, Klasfeld S, Gornik SG, Moreland RT, Wolfsberg TG, Phillippy AM, Mullikin JC, Simakov O, Cartwright P, Nicotra M, Frank U, Baxevanis AD. Schnitzler CE, et al. Among authors: mullikin jc. bioRxiv [Preprint]. 2023 Aug 27:2023.08.25.554815. doi: 10.1101/2023.08.25.554815. bioRxiv. 2023. PMID: 37786714 Free PMC article. Updated. Preprint.
218 results