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Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304633. doi: 10.1101/2024.03.22.24304633.
medRxiv. 2024.
PMID: 38585854
Free PMC article.
Preprint.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN.
Wright CA, et al. Among authors: bonnstetter zt.
Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006271. doi: 10.1101/mcs.a006271. Print 2023 Jun.
Cold Spring Harb Mol Case Stud. 2023.
PMID: 37308299
Free PMC article.
Item in Clipboard
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker SA, Lawlor JMJ, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst ACE, Rashid S, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM.
Felker SA, et al. Among authors: bonnstetter zt.
Genet Med. 2023 Aug;25(8):100884. doi: 10.1016/j.gim.2023.100884. Epub 2023 May 6.
Genet Med. 2023.
PMID: 37161864
Item in Clipboard
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN.
Wright CA, et al. Among authors: bonnstetter zt.
medRxiv [Preprint]. 2023 Feb 8:2023.02.06.23285383. doi: 10.1101/2023.02.06.23285383.
medRxiv. 2023.
PMID: 36798301
Free PMC article.
Updated.
Preprint.
Item in Clipboard
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker SA, Lawlor JM, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst AC, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM.
Felker SA, et al. Among authors: bonnstetter zt.
bioRxiv [Preprint]. 2023 Jan 13:2023.01.12.523654. doi: 10.1101/2023.01.12.523654.
bioRxiv. 2023.
PMID: 36711854
Free PMC article.
Updated.
Preprint.
Item in Clipboard
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