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Year Number of Results
2020 4
2021 8
2022 13
2023 23
2024 14

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57 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
Enhanced Virus Detection and Metagenomic Sequencing in Patients with Meningitis and Encephalitis.
Piantadosi A, Mukerji SS, Ye S, Leone MJ, Freimark LM, Park D, Adams G, Lemieux J, Kanjilal S, Solomon IH, Ahmed AA, Goldstein R, Ganesh V, Ostrem B, Cummins KC, Thon JM, Kinsella CM, Rosenberg E, Frosch MP, Goldberg MB, Cho TA, Sabeti P. Piantadosi A, et al. mBio. 2021 Aug 31;12(4):e0114321. doi: 10.1128/mBio.01143-21. Epub 2021 Aug 31. mBio. 2021. PMID: 34465023 Free PMC article.
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Zhou W, Brumpton B, Kabil O, Gudmundsson J, Thorleifsson G, Weinstock J, Zawistowski M, Nielsen JB, Chaker L, Medici M, Teumer A, Naitza S, Sanna S, Schultheiss UT, Cappola A, Karjalainen J, Kurki M, Oneka M, Taylor P, Fritsche LG, Graham SE, Wolford BN, Overton W, Rasheed H, Haug EB, Gabrielsen ME, Skogholt AH, Surakka I, Davey Smith G, Pandit A, Roychowdhury T, Hornsby WE, Jonasson JG, Senter L, Liyanarachchi S, Ringel MD, Xu L, Kiemeney LA, He H, Netea-Maier RT, Mayordomo JI, Plantinga TS, Hrafnkelsson J, Hjartarson H, Sturgis EM, Palotie A, Daly M, Citterio CE, Arvan P, Brummett CM, Boehnke M, de la Chapelle A, Stefansson K, Hveem K, Willer CJ, Åsvold BO. Zhou W, et al. Nat Commun. 2020 Aug 7;11(1):3981. doi: 10.1038/s41467-020-17718-z. Nat Commun. 2020. PMID: 32769997 Free PMC article.
Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program.
Small AM, Peloso GM, Linefsky J, Aragam J, Galloway A, Tanukonda V, Wang LC, Yu Z, Sunitha Selvaraj M, Farber-Eger EH, Baker MT, Setia-Verma S, Lee SSK, Preuss M, Ritchie MD, Damrauer SM, Rader DJ, Wells QS, Loos R, Lubitz SA, Thanassoulis G, Cho K, Wilson PWF; VA Million Veteran Program; Natarajan P, O'Donnell CJ. Small AM, et al. Circulation. 2023 Mar 21;147(12):942-955. doi: 10.1161/CIRCULATIONAHA.122.061451. Epub 2023 Feb 20. Circulation. 2023. PMID: 36802703 Free PMC article.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loe… See abstract for full author list ➔ Barc J, et al. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction.
Chiang DY, Verkerk AO, Victorio R, Shneyer BI, van der Vaart B, Jouni M, Narendran N, Kc A, Sampognaro JR, Vetrano-Olsen F, Oh JS, Buys E, de Jonge B, Shah DA, Kiviniemi T, Burridge PW, Bezzina CR, Akhmanova A, MacRae CA. Chiang DY, et al. Circ Res. 2024 Jan 5;134(1):46-59. doi: 10.1161/CIRCRESAHA.123.323231. Epub 2023 Dec 14. Circ Res. 2024. PMID: 38095085 Free article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
The molecular genetic landscape of human brain size variation.
Seidlitz J, Mallard TT, Vogel JW, Lee YH, Warrier V, Ball G, Hansson O, Hernandez LM, Mandal AS, Wagstyl K, Lombardo MV, Courchesne E, Glessner JT, Satterthwaite TD, Bethlehem RAI, Bernstock JD; Lifespan Brain Chart Consortium; Tasaki S, Ng B, Gaiteri C, Smoller JW, Ge T, Gur RE, Gandal MJ, Alexander-Bloch AF. Seidlitz J, et al. Cell Rep. 2023 Nov 28;42(11):113439. doi: 10.1016/j.celrep.2023.113439. Epub 2023 Nov 14. Cell Rep. 2023. PMID: 37963017 Free article.
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Wojcik MH, Lemire G, Zaki MS, Wissman M, Win W, White S, Weisburd B, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, 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, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Okur V, Oja KT, O'Leary M, O'Heir E, Morel C, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gazda HT, Ganesh VS, Ganapathy M, Gallacher L, Fu J, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bonnemann C, Beggs AH, Baxter SM, Agrawal PB, Talkowski M, Austin-Tse C, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. medRxiv [Preprint]. 2023 Aug 13:2023.08.08.23293829. doi: 10.1101/2023.08.08.23293829. medRxiv. 2023. PMID: 38328047 Free PMC article. Preprint.
57 results