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2019 2
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251 results

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Page 1
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312 Free PMC article.
The role of vasculature and angiogenesis in respiratory diseases.
Ackermann M, Werlein C, Plucinski E, Leypold S, Kühnel MP, Verleden SE, Khalil HA, Länger F, Welte T, Mentzer SJ, Jonigk DD. Ackermann M, et al. Angiogenesis. 2024 Aug;27(3):293-310. doi: 10.1007/s10456-024-09910-2. Epub 2024 Apr 5. Angiogenesis. 2024. PMID: 38580869 Free PMC article. Review.
Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.
Dougherty GW, Ostrowski LE, Nöthe-Menchen T, Raidt J, Schramm A, Olbrich H, Yin W, Sears PR, Dang H, Smith AJ, Beule AG, Hjeij R, Rutjes N, Haarman EG, Maas SM, Ferkol TW, Noone PG, Olivier KN, Bracht DC, Barbry P, Zaragosi LE, Fierville M, Kliesch S, Wohlgemuth K, König J, George S, Loges NT, Ceppe A, Markovetz MR, Luo H, Guo T, Rizk H, Eldesoky T, Dahlke K, Boldt K, Ueffing M, Hill DB, Pang YP, Knowles MR, Zariwala MA, Omran H. Dougherty GW, et al. Am J Respir Crit Care Med. 2024 Jul 1;210(1):63-76. doi: 10.1164/rccm.202308-1370OC. Am J Respir Crit Care Med. 2024. PMID: 38626355 Free PMC article.
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. N Engl J Med. 2024 Oct 24;391(16):1511-1518. doi: 10.1056/NEJMoa2400718. N Engl J Med. 2024. PMID: 39442041 Free PMC article.
ACLY and ACSS2 link nutrient-dependent chromatin accessibility to CD8 T cell effector responses.
Kaymak I, Watson MJ, Oswald BM, Ma S, Johnson BK, DeCamp LM, Mabvakure BM, Luda KM, Ma EH, Lau K, Fu Z, Muhire B, Kitchen-Goosen SM, Vander Ark A, Dahabieh MS, Samborska B, Vos M, Shen H, Fan ZP, Roddy TP, Kingsbury GA, Sousa CM, Krawczyk CM, Williams KS, Sheldon RD, Kaech SM, Roy DG, Jones RG. Kaymak I, et al. J Exp Med. 2024 Sep 2;221(9):e20231820. doi: 10.1084/jem.20231820. Epub 2024 Aug 16. J Exp Med. 2024. PMID: 39150482 Free PMC article.
A comprehensive head-to-head comparison of key plasma phosphorylated tau 217 biomarker tests.
Warmenhoven N, Salvadó G, Janelidze S, Mattsson-Carlgren N, Bali D, Orduña Dolado A, Kolb H, Triana-Baltzer G, Barthélemy NR, Schindler SE, Aschenbrenner AJ, Raji CA, Benzinger TLS, Morris JC, Ibanez L, Timsina J, Cruchaga C, Bateman RJ, Ashton N, Arslan B, Zetterberg H, Blennow K, Pichet Binette A, Hansson O. Warmenhoven N, et al. Brain. 2025 Feb 3;148(2):416-431. doi: 10.1093/brain/awae346. Brain. 2025. PMID: 39468767 Free PMC article.
Microbe-derived uremic solutes enhance thrombosis potential in the host.
Nemet I, Funabashi M, Li XS, Dwidar M, Sangwan N, Skye SM, Romano KA, Cajka T, Needham BD, Mazmanian SK, Hajjar AM, Rey FE, Fiehn O, Tang WHW, Fischbach MA, Hazen SL. Nemet I, et al. mBio. 2023 Dec 19;14(6):e0133123. doi: 10.1128/mbio.01331-23. Epub 2023 Nov 10. mBio. 2023. PMID: 37947418 Free PMC article.
251 results