|
Halligan NLN, Hanks SC, Matsuo K, Martins T, Zöllner S, Quasney MW, Scott LJ, Dahmer MK, Variants in the ß-globin locus are associated with pneumonia in African American children.
HGG advances 6:100374 2025
PubMed ID: 39444160 View Samples |
|
|
Hatipoglu Ö, Saydam F, The role of AMY1 gene copy number variation in dental caries susceptibility: insights from a Turkish population.
BMC oral health 25:722 2025
PubMed ID: 40369510 View Samples |
|
|
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW, University of Washington Center for Rare Disease Research AW, Undiagnosed Diseases Network AW, Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB, Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.
Nature genetics 57:469-479 2025
PubMed ID: 39880924 View Samples |
|
|
Lau L, Cariaga TA, Chang AB, Lane JH, Purtha WE, Rapaport AS, Hu R, Konno H, Bulloch DN, Rardin MJ, Gibson BW, Devoss J, Ouyang W, Manzanillo PS, An essential role for TASL in mouse autoimmune pathogenesis and Toll-like receptor signaling.
Nature communications 16:968 2025
PubMed ID: 39856038 View Samples |
|
|
Superdock DK, Johnson LM, Ren J, Khan A, Eno M, Man S, Poole AC, The Impact of Human Salivary Amylase Gene Copy Number and Starch on Oral Biofilms.
Microorganisms 13: 2025
PubMed ID: 40005827 View Samples |
|
|
Pettersson L, Westerling S, Talla V, Sendel A, Wennberg L, Olsson R, Hedrum A, Hauzenberger D, Development and performance of a next generation sequencing (NGS) assay for monitoring of dd-cfDNA post solid organ transplantation.
Clinica chimica acta; international journal of clinical chemistry 552:117647 2024
PubMed ID: 37951377 View Samples |
|
|
McFarland KN, Tiwari A, Hashem V, Zhang L, Zeng D, Vincent J, Arredondo MJ, Johnson KL, Gan SR, Yabe I, Skov L, Rasmussen A, Ashizawa T, Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.
Human molecular genetics 33:1567-1574 2024
PubMed ID: 38832639 View Samples |
|
|
Showpnil IA, E Hernandez Gonzalez M, Ramadesikan S, Marhabaie M, Daley A, Dublin-Ryan L, Pastore MT, Gurusamy U, Hunter JM, Stone BS, Bartholomew DW, Manickam K, Miller AR, Wilson RK, Stottmann RW, Koboldt DC, Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
NPJ genomic medicine 9:66 2024
PubMed ID: 39695126 View Samples |
|
|
Meloche M, Pilon MO, Provost S, Leclair G, Oussaïd E, St-Jean I, Jutras M, Gaulin MJ, Lemieux Perreault LP, Valois D, Mongrain I, Busseuil D, Rouleau JL, Tardif JC, Dubé MP, de Denus S, A Genome-Wide Association Study of Oxypurinol Concentrations in Patients Treated with Allopurinol.
Journal of personalized medicine 14: 2024
PubMed ID: 38929870 View Samples |
|
|
Ueda MT, Inamo J, Miya F, Shimada M, Yamaguchi K, Kochi Y, Functional and dynamic profiling of transcript isoforms reveals essential roles of alternative splicing in interferon response.
Cell genomics :100654 2024
PubMed ID: 39288763 View Samples |
|
|
Pedroza Matute S, Turvey K, Iyavoo S, Advancing human genotyping: The Infinium HTS iSelect Custom microarray panel (Rita) development study.
Forensic science international Genetics 71:103049 2024
PubMed ID: 38653142 View Samples |
|
|
Krishnamurthy K, Chai J, Liu X, Wang Y, Naeem R, Goldstein DY, Clinical validation of the Ion Torrent Oncomine Myeloid Assay GX v2 on the Genexus Integrated Sequencer as a stand-alone assay for single-nucleotide variants, insertions/deletions, and fusion genes: Challenges, performance, and perspectives.
American journal of clinical pathology 162:480-491 2024
PubMed ID: 38823030 View Samples |
|
|
Zubiaur P, Rodríguez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, Sangkuhl K, Duconge J, Botton MR, Savieo J, Nofziger C, Whirl-Carrillo M, Klein TE, Gaedigk A, PharmVar GeneFocus: CYP4F2.
Clinical pharmacology and therapeutics 116:963-975 2024
PubMed ID: 39135485 View Samples |
|
|
Wang WY, Lin L, Boone EC, Stevens J, Gaedigk A, .
Frontiers in pharmacology 15:1429286 2024
PubMed ID: 39206265 View Samples |
|
|
Singh MK, Rallabandi HR, Zhou XJ, Qi YY, Zhao ZZ, Gan T, Zhang H, Looger LL, Nath SK, .
Annals of the rheumatic diseases 83:879-888 2024
PubMed ID: 38373841 View Samples |
|
|