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Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages.
Petrone ME, Rothman JE, Breban MI, Ott IM, Russell A, Lasek-Nesselquist E, Kelly K, Omerza G, Renzette N, Watkins AE, Kalinich CC, Alpert T, Brito AF, Earnest R, Tikhonova IR, Castaldi C, Kelly JP, Shudt M, Plitnick J, Schneider E, Murphy S, Neal C, Laszlo E, Altajar A, Pearson C, Muyombwe A, Downing R, Razeq J, Niccolai L, Wilson MS, Anderson ML, Wang J, Liu C, Hui P, Mane S, Taylor BP, Hanage WP, Landry ML, Peaper DR, Bilguvar K, Fauver JR, Vogels CBF, Gardner LM, Pitzer VE, St George K, Adams MD, Grubaugh ND. Petrone ME, et al. Among authors: mane s. medRxiv [Preprint]. 2021 Jul 2:2021.07.01.21259859. doi: 10.1101/2021.07.01.21259859. medRxiv. 2021. Update in: Commun Biol. 2022 May 11;5(1):439. doi: 10.1038/s42003-022-03347-3 PMID: 34230938 Free PMC article. Updated. Preprint.
Lineage abundance estimation for SARS-CoV-2 in wastewater using transcriptome quantification techniques.
Baaijens JA, Zulli A, Ott IM, Nika I, van der Lugt MJ, Petrone ME, Alpert T, Fauver JR, Kalinich CC, Vogels CBF, Breban MI, Duvallet C, McElroy KA, Ghaeli N, Imakaev M, Mckenzie-Bennett MF, Robison K, Plocik A, Schilling R, Pierson M, Littlefield R, Spencer ML, Simen BB; Yale SARS-CoV-2 Genomic Surveillance Initiative; Hanage WP, Grubaugh ND, Peccia J, Baym M. Baaijens JA, et al. Genome Biol. 2022 Nov 8;23(1):236. doi: 10.1186/s13059-022-02805-9. Genome Biol. 2022. PMID: 36348471 Free PMC article.
LRRC23 truncation impairs radial spoke 3 head assembly and sperm motility underlying male infertility.
Hwang JY, Chai P, Nawaz S, Choi J, Lopez-Giraldez F, Hussain S, Bilguvar K, Mane S, Lifton RP, Ahmad W, Zhang K, Chung JJ. Hwang JY, et al. Among authors: mane s. bioRxiv [Preprint]. 2023 Sep 1:2023.02.25.530050. doi: 10.1101/2023.02.25.530050. bioRxiv. 2023. Update in: Elife. 2023 Dec 13;12:RP90095. doi: 10.7554/eLife.90095 PMID: 36865175 Free PMC article. Updated. Preprint.
Dysregulation of mTOR signalling is a converging mechanism in lissencephaly.
Zhang C, Liang D, Ercan-Sencicek AG, Bulut AS, Cortes J, Cheng IQ, Henegariu O, Nishimura S, Wang X, Peksen AB, Takeo Y, Caglar C, Lam TT, Koroglu MN, Narayanan A, Lopez-Giraldez F, Miyagishima DF, Mishra-Gorur K, Barak T, Yasuno K, Erson-Omay EZ, Yalcinkaya C, Wang G, Mane S, Kaymakcalan H, Guzel A, Caglayan AO, Tuysuz B, Sestan N, Gunel M, Louvi A, Bilguvar K. Zhang C, et al. Among authors: mane s. Nature. 2025 Jan 1. doi: 10.1038/s41586-024-08341-9. Online ahead of print. Nature. 2025. PMID: 39743596
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.
Timberlake AT, Jin SC, Nelson-Williams C, Wu R, Furey CG, Islam B, Haider S, Loring E, Galm A; Yale Center for Genome Analysis; Steinbacher DM, Larysz D, Staffenberg DA, Flores RL, Rodriguez ED, Boggon TJ, Persing JA, Lifton RP. Timberlake AT, et al. Proc Natl Acad Sci U S A. 2019 Jul 23;116(30):15116-15121. doi: 10.1073/pnas.1902041116. Epub 2019 Jul 10. Proc Natl Acad Sci U S A. 2019. PMID: 31292255 Free PMC article.
The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.
Manry J, Bastard P, Gervais A, Le Voyer T, Rosain J, Philippot Q, Michailidis E, Hoffmann HH, Eto S, Garcia-Prat M, Bizien L, Parra-Martínez A, Yang R, Haljasmägi L, Migaud M, Särekannu K, Maslovskaja J, de Prost N, Tandjaoui-Lambiotte Y, Luyt CE, Amador-Borrero B, Gaudet A, Poissy J, Morel P, Richard P, Cognasse F, Troya J, Trouillet-Assant S, Belot A, Saker K, Garçon P, Rivière JG, Lagier JC, Gentile S, Rosen L, Shaw E, Morio T, Tanaka J, Dalmau D, Tharaux PL, Sene D, Stepanian A, Mégarbane B, Triantafyllia V, Fekkar A, Heath J, Franco J, Anaya JM, Solé-Violán J, Imberti L, Biondi A, Bonfanti P, Castagnoli R, Delmonte O, Zhang Y, Snow A, Holland S, Biggs C, Moncada-Vélez M, Arias A, Lorenzo L, Boucherit S, Anglicheau D, Planas A, Haerynck F, Duvlis S, Nussbaum R, Ozcelik T, Keles S, Bousfiha A, El Bakkouri J, Ramirez-Santana C, Paul S, Pan-Hammarstrom Q, Hammarstrom L, Dupont A, Kurolap A, Metz C, Aiuti A, Casari G, Lampasona V, Ciceri F, Barreiros L, Dominguez-Garrido E, Vidigal M, Zatz M, van de Beek D, Sahanic S, Tancevski I, Stepanovskyy Y, Boyarchuk O, Nukui Y, Tsumura M, Vidaur L, Tangye S, Burrel S, Duffy D, Quintana-Murci L, Klocperk A, Kann N, Shcherbina A, Lau YL, Leun… See abstract for full author list ➔ Manry J, et al. Among authors: mane s. Res Sq [Preprint]. 2022 Jan 14:rs.3.rs-1225906. doi: 10.21203/rs.3.rs-1225906/v1. Res Sq. 2022. Update in: Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2200413119. doi: 10.1073/pnas.2200413119 PMID: 35043109 Free PMC article. Updated. Preprint.
The human and non-human primate developmental GTEx projects.
Coorens THH, Guillaumet-Adkins A, Kovner R, Linn RL, Roberts VHJ, Sule A, Van Hoose PM; dGTEx Consortium. Coorens THH, et al. Nature. 2025 Jan;637(8046):557-564. doi: 10.1038/s41586-024-08244-9. Epub 2025 Jan 15. Nature. 2025. PMID: 39815096 Review.
552 results