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Year Number of Results
2020 4
2021 8
2022 11
2023 23
2024 5

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46 results

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Page 1
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL, O'Leary MC, Lemire G, VanNoy GE, DiTroia S, Ganesh VS, Groopman E, O'Heir E, Mangilog B, Osei-Owusu I, Pais LS, Serrano J, Singer-Berk M, Weisburd B, Wilson MW, Austin-Tse C, Abdelhakim M, Althagafi A, Babbi G, Bellazzi R, Bovo S, Carta MG, Casadio R, Coenen PJ, De Paoli F, Floris M, Gajapathy M, Hoehndorf R, Jacobsen JOB, Joseph T, Kamandula A, Katsonis P, Kint C, Lichtarge O, Limongelli I, Lu Y, Magni P, Mamidi TKK, Martelli PL, Mulargia M, Nicora G, Nykamp K, Pejaver V, Peng Y, Pham THC, Podda MS, Rao A, Rizzo E, Saipradeep VG, Savojardo C, Schols P, Shen Y, Sivadasan N, Smedley D, Soru D, Srinivasan R, Sun Y, Sunderam U, Tan W, Tiwari N, Wang X, Wang Y, Williams A, Worthey EA, Yin R, You Y, Zeiberg D, Zucca S, Bakolitsa C, Brenner SE, Fullerton SM, Radivojac P, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Hum Genomics. 2024 Apr 29;18(1):44. doi: 10.1186/s40246-024-00604-w. Hum Genomics. 2024. PMID: 38685113 Free PMC article.
Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.
Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S; Undiagnosed Diseases Network; Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Ganesh VS, et al. medRxiv [Preprint]. 2024 Feb 7:2024.01.31.24301497. doi: 10.1101/2024.01.31.24301497. medRxiv. 2024. PMID: 38496558 Free PMC article. Preprint.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Bönnemann CG, Donkervoort S, Haliloğlu G, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. medRxiv [Preprint]. 2024 Feb 27:2024.02.11.24302646. doi: 10.1101/2024.02.11.24302646. medRxiv. 2024. PMID: 38405995 Free PMC article. Preprint.
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.
Transcriptional cartography integrates multiscale biology of the human cortex.
Wagstyl K, Adler S, Seidlitz J, Vandekar S, Mallard TT, Dear R, DeCasien AR, Satterthwaite TD, Liu S, Vértes PE, Shinohara RT, Alexander-Bloch A, Geschwind DH, Raznahan A. Wagstyl K, et al. Elife. 2024 Feb 7;12:RP86933. doi: 10.7554/eLife.86933. Elife. 2024. PMID: 38324465 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.
MSGene: Derivation and validation of a multistate model for lifetime risk of coronary artery disease using genetic risk and the electronic health record.
Urbut SM, Yeung MW, Khurshid S, Cho SMJ, Schuermans A, German J, Taraszka K, Fahed AC, Ellinor P, Trinquart L, Parmigiani G, Gusev A, Natarajan P. Urbut SM, et al. medRxiv [Preprint]. 2023 Nov 8:2023.11.08.23298229. doi: 10.1101/2023.11.08.23298229. medRxiv. 2023. PMID: 37986972 Free PMC article. Preprint.
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.
46 results