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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Among authors: ramakrishnan g. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 Free PMC article.
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: ramakrishnan g. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300 Free PMC article.
PANDORA v2.0: Benchmarking peptide-MHC II models and software improvements.
Parizi FM, Marzella DF, Ramakrishnan G, 't Hoen PAC, Karimi-Jafari MH, Xue LC. Parizi FM, et al. Among authors: ramakrishnan g. Front Immunol. 2023 Dec 8;14:1285899. doi: 10.3389/fimmu.2023.1285899. eCollection 2023. Front Immunol. 2023. PMID: 38143769 Free PMC article.
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J, van der Made CI, Ramakrishnan G, Coughlan E, Asselta R, Löscher BS, Valenti LVC, de Cid R, Bujanda L, Julià A, Pairo-Castineira E, Baillie JK, May S, Zametica B, Heggemann J, Albillos A, Banales JM, Barretina J, Blay N, Bonfanti P, Buti M, Fernandez J, Marsal S, Prati D, Ronzoni L, Sacchi N; Spanish/Italian Severe COVID-19 Sequencing group; GenOMICC Investigators; Schultze JL, Riess O, Franke A, Rawlik K, Ellinghaus D, Hoischen A, Schmidt A, Ludwig KU. Boos J, et al. Among authors: ramakrishnan g. HGG Adv. 2024 Oct 10;5(4):100323. doi: 10.1016/j.xhgg.2024.100323. Epub 2024 Jun 28. HGG Adv. 2024. PMID: 38944683 Free PMC article.
Measurement of circulating viral antigens post-SARS-CoV-2 infection in a multicohort study.
Swank Z, Borberg E, Chen Y, Senussi Y, Chalise S, Manickas-Hill Z, Yu XG, Li JZ, Alter G, Henrich TJ, Kelly JD, Hoh R, Goldberg SA, Deeks SG, Martin JN, Peluso MJ, Talla A, Li X, Skene P, Bumol TF, Torgerson TR, Czartoski JL, McElrath MJ, Karlson EW, Walt DR; RECOVER consortium authors. Swank Z, et al. Clin Microbiol Infect. 2024 Dec;30(12):1599-1605. doi: 10.1016/j.cmi.2024.09.001. Epub 2024 Oct 9. Clin Microbiol Infect. 2024. PMID: 39389851
Estimates of the burden of human rabies deaths and animal bites in India, 2022-23: a community-based cross-sectional survey and probability decision-tree modelling study.
Thangaraj JWV, Krishna NS, Devika S, Egambaram S, Dhanapal SR, Khan SA, Srivastava AK, Mishra A, Shrinivasa B, Gour D, Madhukar M, Verma N, Sharma P, Soni RK, Ramasamy S, Mohandas S, Baidya S, Rehman T, Yeldandi VV, Singh A, Sreedevi A, Tandale BV, Purakayastha DR, Reddy MM, Toppo M, Solanki NV, Ghosh P, Jaiswal P, Vyas S, Das S, Palo SK, Prasanth V, Rozario AGA, Durairajan C, Delli A, Sasi A, Pandiyan C, Ashwathnarayana DH, Joy S, Isloor S, Sudarshan MK, Rahi M, Murhekar MV; Human Rabies Study Collaborators. Thangaraj JWV, et al. Lancet Infect Dis. 2024 Sep 30:S1473-3099(24)00490-0. doi: 10.1016/S1473-3099(24)00490-0. Online ahead of print. Lancet Infect Dis. 2024. PMID: 39362224
200 results