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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2019 | 1 |
2022 | 1 |
2024 | 2 |
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Page 1
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Am J Med Genet A. 2022 Sep;188(9):2750-2759. doi: 10.1002/ajmg.a.62772. Epub 2022 May 11.
Am J Med Genet A. 2022.
PMID: 35543142
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A.
Stenton SL, et al.
Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w.
Hum Genomics. 2024.
PMID: 38685113
Free PMC article.
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Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation.
Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, Jorde LB, Quinlan AR.
Sasani TA, et al.
Elife. 2019 Sep 24;8:e46922. doi: 10.7554/eLife.46922.
Elife. 2019.
PMID: 31549960
Free PMC article.
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Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST.
Marchant RG, et al.
Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27.
Ann Clin Transl Neurol. 2024.
PMID: 38544359
Free PMC article.
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