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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. Among authors: lovgren a. 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.
Temporomandibular disorders: INfORM/IADR key points for good clinical practice based on standard of care.
Manfredini D, Häggman-Henrikson B, Al Jaghsi A, Baad-Hansen L, Beecroft E, Bijelic T, Bracci A, Brinkmann L, Bucci R, Colonna A, Ernberg M, Giannakopoulos NN, Gillborg S, Greene CS, Heir G, Koutris M, Kutschke A, Lobbezoo F, Lövgren A, Michelotti A, Nixdorf DR, Nykänen L, Oyarzo JF, Pigg M, Pollis M, Restrepo CC, Rongo R, Rossit M, Saracutu OI, Schierz O, Stanisic N, Val M, Verhoeff MC, Visscher CM, Voog-Oras U, Wrangstål L, Bender SD, Durham J; International Network for Orofacial Pain and Related Disorders Methodology. Manfredini D, et al. Among authors: lovgren a. Cranio. 2024 Oct 3:1-5. doi: 10.1080/08869634.2024.2405298. Online ahead of print. Cranio. 2024. PMID: 39360749
The PerioGene North Study Uncovers Serum Proteins Related to Periodontitis.
Wänman M, Betnér S, Esberg A, Holm CK, Isehed C, Holmlund A, Palmqvist P, Lövgren A, Lindquist S, Hänström L, Lerner UH, Kindstedt E, Lundberg P. Wänman M, et al. Among authors: lovgren a. J Dent Res. 2024 Sep;103(10):999-1007. doi: 10.1177/00220345241263320. Epub 2024 Aug 5. J Dent Res. 2024. PMID: 39101637 Free PMC article.
De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
Villamor-Payà M, Sanchiz-Calvo M, Smak J, Pais L, Sud M, Shankavaram U, Lovgren AK, Austin-Tse C, Ganesh VS, Gay M, Vilaseca M, Arauz-Garofalo G, Palenzuela L, VanNoy G, O'Donnell-Luria A, Stracker TH. Villamor-Payà M, et al. Among authors: lovgren ak. iScience. 2024 May 18;27(6):109984. doi: 10.1016/j.isci.2024.109984. eCollection 2024 Jun 21. iScience. 2024. PMID: 38868186 Free PMC article.
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J, Tilly P, Lecat R, Vaca HR, Mosser L, Brivio E, Balla T, Gomes MV, Ramos-Morales E, Schwaller N, Salinas-Giegé T, VanNoy G, England EM, Lovgren AK, O'Leary M, Chopra M, Ojeda NM, Toosi MB, Eslahi A, Alerasool M, Mojarrad M, Pais LS, Yeh RC, Gable DL, Hashem MO, Abdulwahab F, Alzaidan H, Aldhalaan H, Tous E, Alsagheir A, Alowain M, Tamim A, Alfayez K, Alhashem A, Alnuzha A, Kamel M, Al-Awam BS, Elnaggar W, Almenabawy N, O'Donnell-Luria A, Neil JE, Gleeson JG, Walsh CA, Alkuraya FS, AlAbdi L, Elkhateeb N, Selim L, Srivastava S, Nedialkova DD, Drouard L, Romier C, Bayam E, Godin JD. Del-Pozo-Rodriguez J, et al. Among authors: lovgren ak. medRxiv [Preprint]. 2024 Nov 18:2024.03.01.24303485. doi: 10.1101/2024.03.01.24303485. medRxiv. 2024. PMID: 38496416 Free PMC article. Preprint.
89 results