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Page 1
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
Belyeu JR, Brand H, Wang H, Zhao X, Pedersen BS, Feusier J, Gupta M, Nicholas TJ, Brown J, Baird L, Devlin B, Sanders SJ, Jorde LB, Talkowski ME, Quinlan AR. Belyeu JR, et al. Among authors: nicholas tj. Am J Hum Genet. 2021 Apr 1;108(4):597-607. doi: 10.1016/j.ajhg.2021.02.012. Epub 2021 Mar 5. Am J Hum Genet. 2021. PMID: 33675682 Free PMC article.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S. Nicholas TJ, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1888. doi: 10.1002/mgg3.1888. Epub 2022 Feb 4. Mol Genet Genomic Med. 2022. PMID: 35119225 Free PMC article.
A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree.
Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Goldberg ME, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler EE. Porubsky D, et al. Among authors: nicholas tj. bioRxiv [Preprint]. 2024 Aug 5:2024.08.05.606142. doi: 10.1101/2024.08.05.606142. bioRxiv. 2024. PMID: 39149261 Free PMC article. Preprint.
Exome sequencing of Finnish isolates enhances rare-variant association power.
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project; Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Locke AE, et al. Among authors: nicholas tj. Nature. 2019 Aug;572(7769):323-328. doi: 10.1038/s41586-019-1457-z. Epub 2019 Jul 31. Nature. 2019. PMID: 31367044 Free PMC article.
Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis.
Holstege H, Pfeiffer W, Sie D, Hulsman M, Nicholas TJ, Lee CC, Ross T, Lin J, Miller MA, Ylstra B, Meijers-Heijboer H, Brugman MH, Staal FJ, Holstege G, Reinders MJ, Harkins TT, Levy S, Sistermans EA. Holstege H, et al. Among authors: nicholas tj. Genome Res. 2014 May;24(5):733-42. doi: 10.1101/gr.162131.113. Epub 2014 Apr 23. Genome Res. 2014. PMID: 24760347 Free PMC article.
Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis.
Meltz Steinberg K, Nicholas TJ, Koboldt DC, Yu B, Mardis E, Pamphlett R. Meltz Steinberg K, et al. Among authors: nicholas tj. Amyotroph Lateral Scler Frontotemporal Degener. 2015;16(5-6):385-92. doi: 10.3109/21678421.2015.1040029. Epub 2015 May 11. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25960086
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power.
Locke AE, Steinberg KM, Chiang CWK, Service SK, Havulinna AS, Stell L, Pirinen M, Abel HJ, Chiang CC, Fulton RS, Jackson AU, Kang CJ, Kanchi KL, Koboldt DC, Larson DE, Nelson J, Nicholas TJ, Pietilä A, Ramensky V, Ray D, Scott LJ, Stringham HM, Vangipurapu J, Welch R, Yajnik P, Yin X, Eriksson JG, Ala-Korpela M, Järvelin MR, Männikkö M, Laivuori H; FinnGen Project; Dutcher SK, Stitziel NO, Wilson RK, Hall IM, Sabatti C, Palotie A, Salomaa V, Laakso M, Ripatti S, Boehnke M, Freimer NB. Locke AE, et al. Among authors: nicholas tj. Nature. 2019 Nov;575(7783):E4. doi: 10.1038/s41586-019-1726-x. Nature. 2019. PMID: 31686056
24 results