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Page 1
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data.
Holt JM, Harting J, Chen X, Baker D, Saunders CT, Kronenberg Z, Gonzaludo N, Yoo B, Hudjashov G, Joeloo M, Lawlor JMJ, Lim WK; Estonian Biobank Research Team; Jamuar SS, Cooper GM, Milani L, Pastinen T, Eberle MA. Holt JM, et al. Among authors: lawlor jmj. bioRxiv [Preprint]. 2024 Dec 11:2024.12.10.627527. doi: 10.1101/2024.12.10.627527. bioRxiv. 2024. PMID: 39713404 Free PMC article. Preprint.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Rodriguez Nunez I, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM. Hiatt SM, et al. Among authors: lawlor jmj. Genome Res. 2024 Nov 20;34(11):1747-1762. doi: 10.1101/gr.279227.124. Genome Res. 2024. PMID: 39299904
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Nunez IR, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM. Hiatt SM, et al. Among authors: lawlor jmj. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304633. doi: 10.1101/2024.03.22.24304633. medRxiv. 2024. Update in: Genome Res. 2024 Nov 20;34(11):1747-1762. doi: 10.1101/gr.279227.124 PMID: 38585854 Free PMC article. Updated. Preprint.
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.
Moyers BA, Loupe JM, Felker SA, Lawlor JMJ, Anderson AG, Rodriguez-Nunez I, Bunney WE, Bunney BG, Cartagena PM, Sequeira A, Watson SJ, Akil H, Mendenhall EM, Cooper GM, Myers RM. Moyers BA, et al. Among authors: lawlor jmj. bioRxiv [Preprint]. 2023 Oct 9:2023.10.06.561245. doi: 10.1101/2023.10.06.561245. bioRxiv. 2023. Update in: Genome Res. 2024 Sep 20;34(8):1224-1234. doi: 10.1101/gr.278601.123 PMID: 37873117 Free PMC article. Updated. Preprint.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Lemke AA, Thompson ML, Gimpel EC, McNamara KC, Rich CA, Finnila CR, Cochran ME, Lawlor JMJ, East KM, Bowling KM, Latner DR, Hiatt SM, Amaral MD, Kelley WV, Greve V, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Hughes T, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kirmse BM, Savich R, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM, Brothers KB. Lemke AA, et al. Among authors: lawlor jmj. J Pers Med. 2023 Jun 21;13(7):1026. doi: 10.3390/jpm13071026. J Pers Med. 2023. PMID: 37511639 Free PMC article.
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: lawlor jmj. 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.
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: lawlor jmj. Genet Med. 2023 Aug;25(8):100884. doi: 10.1016/j.gim.2023.100884. Epub 2023 May 6. Genet Med. 2023. PMID: 37161864 Free PMC article.
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: lawlor jmj. medRxiv [Preprint]. 2023 Feb 8:2023.02.06.23285383. doi: 10.1101/2023.02.06.23285383. medRxiv. 2023. Update in: Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006271. doi: 10.1101/mcs.a006271 PMID: 36798301 Free PMC article. Updated. Preprint.
Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience.
Muenzen KD, Amendola LM, Kauffman TL, Mittendorf KF, Bensen JT, Chen F, Green R, Powell BC, Kvale M, Angelo F, Farnan L, Fullerton SM, Robinson JO, Li T, Murali P, Lawlor JMJ, Ou J, Hindorff LA, Jarvik GP, Crosslin DR. Muenzen KD, et al. Among authors: lawlor jmj. HGG Adv. 2022 May 20;3(3):100120. doi: 10.1016/j.xhgg.2022.100120. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35707062 Free PMC article.
21 results