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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, Canigiula P, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: gardner j. Am J Hum Genet. 2025 Jan 22:S0002-9297(25)00002-3. doi: 10.1016/j.ajhg.2025.01.002. Online ahead of print. Am J Hum Genet. 2025. PMID: 39862869
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Mane… See abstract for full author list ➔ Quinodoz M, et al. Among authors: gardner jc. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Vanderscheldon RK, Sukov WR, Gardner JA, Rehder CW, Levy B, Velagaleti GV, Toydemir RM, Tang G, Boles B, Cao Y, Mixon C, Zou YS, Astbury C, Tsuchiya KD, Peterson JF. Vanderscheldon RK, et al. Among authors: gardner ja. Genes (Basel). 2024 Dec 17;15(12):1612. doi: 10.3390/genes15121612. Genes (Basel). 2024. PMID: 39766879 Free PMC article.
Dual α-globin-truncated erythropoietin receptor knockin restores hemoglobin production in α-thalassemia-derived erythroid cells.
Chu SN, Soupene E, Sharma D, Sinha R, McCreary T, Hernandez B, Shen H, Wienert B, Bowman C, Yin H, Lesch BJ, Jia K, Romero KA, Kostamo Z, Zhang Y, Tran T, Cordero M, Homma S, Hampton JP, Gardner JM, Conklin BR, MacKenzie TC, Sheehan VA, Porteus MH, Cromer MK. Chu SN, et al. Among authors: gardner jm. Cell Rep. 2025 Jan 3;44(1):115141. doi: 10.1016/j.celrep.2024.115141. Online ahead of print. Cell Rep. 2025. PMID: 39754719 Free article.
3,367 results