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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2021 | 1 |
2023 | 3 |
2024 | 3 |
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Page 1
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12.
Genet Med. 2021.
PMID: 33580225
Free PMC article.
Impact of genome build on RNA-seq interpretation and diagnostics.
Ungar RA, Goddard PC, Jensen TD, Degalez F, Smith KS, Jin CA; Undiagnosed Diseases Network; Bonner DE, Bernstein JA, Wheeler MT, Montgomery SB.
Ungar RA, et al.
medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165.
medRxiv. 2024.
PMID: 38260490
Free PMC article.
Preprint.
Item in Clipboard
Simulation of undiagnosed patients with novel genetic conditions.
Alsentzer E, Finlayson SG, Li MM; Undiagnosed Diseases Network; Kobren SN, Kohane IS.
Alsentzer E, et al.
Nat Commun. 2023 Oct 12;14(1):6403. doi: 10.1038/s41467-023-41980-6.
Nat Commun. 2023.
PMID: 37828001
Free PMC article.
Item in Clipboard
Improved detection of aberrant splicing using the Intron Jaccard Index.
Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J.
Scheller IF, et al.
medRxiv [Preprint]. 2023 Apr 3:2023.03.31.23287997. doi: 10.1101/2023.03.31.23287997.
medRxiv. 2023.
PMID: 37066374
Free PMC article.
Updated.
Preprint.
Item in Clipboard
Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.
Zhao J, Longo N, Lewis RG, Nicholas TJ, Boyden SE, Andrews A, Larson A; Undiagnosed Diseases Network; Bayrak-Toydemir P, Botto LD, Mao R.
Zhao J, et al.
Am J Med Genet A. 2024 May;194(5):e63516. doi: 10.1002/ajmg.a.63516. Epub 2024 Jan 2.
Am J Med Genet A. 2024.
PMID: 38168088
Item in Clipboard
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index.
Scheller IF, Lutz K, Mertes C, Yépez VA, Gagneur J.
Scheller IF, et al.
Am J Hum Genet. 2023 Dec 7;110(12):2056-2067. doi: 10.1016/j.ajhg.2023.10.014. Epub 2023 Nov 24.
Am J Hum Genet. 2023.
PMID: 38006880
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Chen Y, Dawes R, Kim HC, Stenton SL, Walker S, Ljungdahl A, Lord J, Ganesh VS, Ma J, Martin-Geary AC, Lemire G, D'Souza EN, Dong S, Ellingford JM, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Brown NJ, Burrage LC, Chapman K, Compton AG, Cunningham CA, D'Souza P, Délot EC, Dias KR, Elias ER, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Grant CL, Haack T, Kuechler A, Lalani SR, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lockhart PJ, Ma AS, Macnamara EF, Maurer TM, Mendez HR, Montgomery SB, Nassogne MC, Neumann S, O'Leary M, Palmer EE, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Simons C, Sisodiya SM, Snell P, Clair L, Stark Z, Tan TY, Tan NB, Temple SE, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Xiao C, Zocche D, Rubenstein JL, Markenscoff-Papadimitriou E, Fica SM, Baralle D, Depienne C, MacArthur DG, Howson JM, Sanders SJ, O'Donnell-Luria A, Whiffin N.
Chen Y, et al.
medRxiv [Preprint]. 2024 Apr 9:2024.04.07.24305438. doi: 10.1101/2024.04.07.24305438.
medRxiv. 2024.
PMID: 38645094
Free PMC article.
Preprint.
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