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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2008 1
2010 1
2011 5
2012 8
2013 6
2014 14
2015 6
2016 16
2017 7
2018 17
2019 14
2020 16
2021 10
2022 12
2023 8
2024 2

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131 results

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Page 1
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group, PLS COSMOS Study Group, GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. Res Sq [Preprint]. 2023 Dec 21:rs.3.rs-3721598. doi: 10.21203/rs.3.rs-3721598/v1. Res Sq. 2023. PMID: 38196621 Free PMC article. Preprint.
Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.
Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ; Childhood Liver Disease Research Network (ChiLDReN). Van Hove JLK, et al. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. eCollection 2024 Jan 1. Hepatol Commun. 2024. PMID: 38180987 Free PMC article.
Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS.
Pottinger TD, Motelow JE, Povysil G, Moreno CAM, Ren Z, Phatnani H; New York Genome Center ALS Sequencing Consortium; Aitman TJ, Santoyo-Lopez J; Scottish Genomes Partnership; Mitsumoto H; ALS COSMOS Study Group; PLS COSMOS Study Group; GTAC Investigators; Goldstein DB, Harms MB. Pottinger TD, et al. medRxiv [Preprint]. 2023 Oct 23:2023.09.30.23296353. doi: 10.1101/2023.09.30.23296353. medRxiv. 2023. PMID: 37873269 Free PMC article. Preprint.
Isolation of the murine Glut1 deficient thalamocortical circuit: wavelet characterization and reverse glucose dependence of low and gamma frequency oscillations.
Solis EM, Good LB, Granja Vázquez R, Patnaik S, Hernandez-Reynoso AG, Ma Q, Angulo G, Dobariya A, Cogan SF, Pancrazio JJ, Pascual JM, Jakkamsetti V. Solis EM, et al. bioRxiv [Preprint]. 2023 Aug 20:2023.06.05.543611. doi: 10.1101/2023.06.05.543611. bioRxiv. 2023. PMID: 37645928 Free PMC article. Updated. Preprint.
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Lareau CA, Dubois SM, Buquicchio FA, Hsieh YH, Garg K, Kautz P, Nitsch L, Praktiknjo SD, Maschmeyer P, Verboon JM, Gutierrez JC, Yin Y, Fiskin E, Luo W, Mimitou EP, Muus C, Malhotra R, Parikh S, Fleming MD, Oevermann L, Schulte J, Eckert C, Kundaje A, Smibert P, Vardhana SA, Satpathy AT, Regev A, Sankaran VG, Agarwal S, Ludwig LS. Lareau CA, et al. Nat Genet. 2023 Jul;55(7):1198-1209. doi: 10.1038/s41588-023-01433-8. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386249 Free PMC article.
The evolution of the mitochondrial disease diagnostic odyssey.
Thompson JLP, Karaa A, Pham H, Yeske P, Krischer J, Xiao Y, Long Y, Kramer A, Dimmock D, Holbert A, Gorski C, Engelstad KM, Buchsbaum R, Rosales XQ, Hirano M. Thompson JLP, et al. Orphanet J Rare Dis. 2023 Jun 22;18(1):157. doi: 10.1186/s13023-023-02754-x. Orphanet J Rare Dis. 2023. PMID: 37349818 Free PMC article.
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
131 results