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Page 1
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: lawlor jm. bioRxiv [Preprint]. 2023 Jan 13:2023.01.12.523654. doi: 10.1101/2023.01.12.523654. bioRxiv. 2023. Update in: Genet Med. 2023 Aug;25(8):100884. doi: 10.1016/j.gim.2023.100884 PMID: 36711854 Free PMC article. Updated. Preprint.
Cystic fibrosis learning network telehealth innovation lab during the COVID-19 pandemic: a success QI story for interdisciplinary care and agenda setting.
Albon D, Thomas L, Hoberg L, Stamper S, Somerville L, Varghese P, Balasa E, Roman M, Britto MT, Miner M, Gehring E, Gammon C, Amin RS, Seid M, Powers M; CF Learning Network telehealth iLab working group. Albon D, et al. BMJ Open Qual. 2022 May;11(2):e001844. doi: 10.1136/bmjoq-2022-001844. BMJ Open Qual. 2022. PMID: 35589277 Free PMC article.
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM, Amaral MD, Bowling KM, Finnila CR, Thompson ML, Gray DE, Lawlor JMJ, Cochran JN, Bebin EM, Brothers KB, East KM, Kelley WV, Lamb NE, Levy SE, Lose EJ, Neu MB, Rich CA, Simmons S, Myers RM, Barsh GS, Cooper GM. Hiatt SM, et al. Clin Genet. 2018 Jul;94(1):174-178. doi: 10.1111/cge.13259. Epub 2018 May 10. Clin Genet. 2018. PMID: 29652076 Free PMC article.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM. Thompson ML, et al. Genet Med. 2018 Dec;20(12):1635-1643. doi: 10.1038/gim.2018.53. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790872 Free PMC article.
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group; Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Carvill GL, et al. Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023. Am J Hum Genet. 2018. PMID: 30526861 Free PMC article.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM. Hiatt SM, et al. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14. Am J Hum Genet. 2019. PMID: 30879638 Free PMC article.
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN, McKinley EC, Cochran M, Amaral MD, Moyers BA, Lasseigne BN, Gray DE, Lawlor JMJ, Prokop JW, Geier EG, Holt JM, Thompson ML, Newberry JS, Yokoyama JS, Worthey EA, Geldmacher DS, Love MN, Cooper GM, Myers RM, Roberson ED. Cochran JN, et al. Among authors: lawlor jmj. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003491. doi: 10.1101/mcs.a003491. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836585 Free PMC article.
28 results