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522 results

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Page 1
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Martin AR, Williams E, Foulger RE, Leigh S, Daugherty LC, Niblock O, Leong IUS, Smith KR, Gerasimenko O, Haraldsdottir E, Thomas E, Scott RH, Baple E, Tucci A, Brittain H, de Burca A, Ibañez K, Kasperaviciute D, Smedley D, Caulfield M, Rendon A, McDonagh EM. Martin AR, et al. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2. Nat Genet. 2019. PMID: 31676867 No abstract available.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque … See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: martin a. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project. Turnbull C, et al. Among authors: martin ar. BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687. BMJ. 2018. PMID: 29691228 No abstract available.
Targeting a lineage-specific PI3Kɣ-Akt signaling module in acute myeloid leukemia using a heterobifunctional degrader molecule.
Kelly LM, Rutter JC, Lin KH, Ling F, Duchmann M, Latour E, Arang N, Pasquer H, Ho Nhat D, Charles J, Killarney ST, Ang HX, Namor F, Culeux C, Lombard B, Loew D, Swaney DL, Krogan NJ, Brunel L, Carretero É, Verdié P, Amblard M, Fodil S, Huynh T, Sebert M, Adès L, Raffoux E, Fenouille N, Itzykson R, Lobry C, Benajiba L, Forget A, Martin AR, Wood KC, Puissant A. Kelly LM, et al. Among authors: martin ar. Nat Cancer. 2024 May 30. doi: 10.1038/s43018-024-00782-5. Online ahead of print. Nat Cancer. 2024. PMID: 38816660
Implications of Race Adjustment in Lung-Function Equations.
Diao JA, He Y, Khazanchi R, Nguemeni Tiako MJ, Witonsky JI, Pierson E, Rajpurkar P, Elhawary JR, Melas-Kyriazi L, Yen A, Martin AR, Levy S, Patel CJ, Farhat M, Borrell LN, Cho MH, Silverman EK, Burchard EG, Manrai AK. Diao JA, et al. Among authors: martin ar. N Engl J Med. 2024 May 19. doi: 10.1056/NEJMsa2311809. Online ahead of print. N Engl J Med. 2024. PMID: 38767252
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm H, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: martin ar. Genome Res. 2024 May 15:gr.278378.123. doi: 10.1101/gr.278378.123. Online ahead of print. Genome Res. 2024. PMID: 38749656
Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study.
Labounek R, Bondy MT, Paulson AL, Bédard S, Abramovic M, Alonso-Ortiz E, Atcheson NT, Barlow LR, Barry RL, Barth M, Battiston M, Büchel C, Budde MD, Callot V, Combes A, De Leener B, Descoteaux M, de Sousa PL, Dostál M, Doyon J, Dvorak AV, Eippert F, Epperson KR, Epperson KS, Freund P, Finsterbusch J, Foias A, Fratini M, Fukunaga I, Gandini Wheeler-Kingshott CAM, Germani G, Gilbert G, Giove F, Grussu F, Hagiwara A, Henry PG, Horák T, Hori M, Joers JM, Kamiya K, Karbasforoushan H, Keřkovský M, Khatibi A, Kim JW, Kinany N, Kitzler H, Kolind S, Kong Y, Kudlička P, Kuntke P, Kurniawan ND, Kusmia S, Laganà MM, Laule C, Law CSW, Leutritz T, Liu Y, Llufriu S, Mackey S, Martin AR, Martinez-Heras E, Mattera L, O'Grady KP, Papinutto N, Papp D, Pareto D, Parrish TB, Pichiecchio A, Prados F, Rovira À, Ruitenberg MJ, Samson RS, Savini G, Seif M, Seifert AC, Smith AK, Smith SA, Smith ZA, Solana E, Suzuki Y, Tackley GW, Tinnermann A, Valošek J, Van De Ville D, Yiannakas MC, Weber KA 2nd, Weiskopf N, Wise RG, Wyss PO, Xu J, Cohen-Adad J, Lenglet C, Nestrašil I. Labounek R, et al. Among authors: martin ar. bioRxiv [Preprint]. 2024 May 1:2024.04.29.591421. doi: 10.1101/2024.04.29.591421. bioRxiv. 2024. PMID: 38746371 Free PMC article. Preprint.
Advanced MRI metrics improve the prediction of baseline disease severity for individuals with degenerative cervical myelopathy.
Al-Shawwa A, Ost K, Anderson D, Cho N, Evaniew N, Jacobs WB, Martin AR, Gaekwad R, Tripathy S, Bouchard J, Casha S, Cho R, duPlessis S, Lewkonia P, Nicholls F, Salo PT, Soroceanu A, Swamy G, Thomas KC, Yang MMH, Cohen-Adad J, Cadotte DW. Al-Shawwa A, et al. Among authors: martin ar. Spine J. 2024 Apr 26:S1529-9430(24)00193-1. doi: 10.1016/j.spinee.2024.04.028. Online ahead of print. Spine J. 2024. PMID: 38679077 Free article.
Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.
DeFelice M, Grimsby JL, Howrigan D, Yuan K, Chapman SB, Stevens C, DeLuca S, Townsend M, Buxbaum J, Pericak-Vance M, Qin S, Stein DJ, Teferra S, Xavier RJ, Huang H, Martin AR, Neale BM. DeFelice M, et al. Among authors: martin ar. bioRxiv [Preprint]. 2024 Apr 9:2024.04.03.587209. doi: 10.1101/2024.04.03.587209. bioRxiv. 2024. PMID: 38645052 Free PMC article. Preprint.
522 results