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Page 1
Molecular Characterization of Juxtaglomerular Cell Tumors: Evidence of Alterations in MAPK-RAS Pathway.
Lobo J, Canete-Portillo S, Pena MDCR, McKenney JK, Aron M, Massicano F, Wilk BM, Gajapathy M, Brown DM, Baydar DE, Matoso A, Rioux-Leclerq N, Pan CC, Tretiakova MS, Trpkov K, Williamson SR, Rais-Bahrami S, Mackinnon AC, Harada S, Worthey EA, Magi-Galluzzi C. Lobo J, et al. Among authors: worthey ea. Mod Pathol. 2024 Apr 16;37(6):100492. doi: 10.1016/j.modpat.2024.100492. Online ahead of print. Mod Pathol. 2024. PMID: 38614322
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network; Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. Kanca O, et al. Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. Am J Hum Genet. 2019. PMID: 31491411 Free PMC article. No abstract available.
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. Among authors: worthey ea. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL, O'Leary M, 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 M, 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. Among authors: worthey ea. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293212. doi: 10.1101/2023.08.02.23293212. medRxiv. 2023. PMID: 37577678 Free PMC article. Updated. Preprint.
Ten simple rules for using public biological data for your research.
Oza VH, Whitlock JH, Wilk EJ, Uno-Antonison A, Wilk B, Gajapathy M, Howton TC, Trull A, Ianov L, Worthey EA, Lasseigne BN. Oza VH, et al. Among authors: worthey ea. PLoS Comput Biol. 2023 Jan 5;19(1):e1010749. doi: 10.1371/journal.pcbi.1010749. eCollection 2023 Jan. PLoS Comput Biol. 2023. PMID: 36602970 Free PMC article.
One is the loneliest number: genotypic matchmaking using the electronic health record.
Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network. Brokamp E, et al. Genet Med. 2021 Oct;23(10):1830-1832. doi: 10.1038/s41436-021-01179-w. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230636 Free article. No abstract available.
85 results