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Page 1
Transcriptomics and chromatin accessibility in multiple African population samples.
DeGorter MK, Goddard PC, Karakoc E, Kundu S, Yan SM, Nachun D, Abell N, Aguirre M, Carstensen T, Chen Z, Durrant M, Dwaracherla VR, Feng K, Gloudemans MJ, Hunter N, Moorthy MPS, Pomilla C, Rodrigues KB, Smith CJ, Smith KS, Ungar RA, Balliu B, Fellay J, Flicek P, McLaren PJ, Henn B, McCoy RC, Sugden L, Kundaje A, Sandhu MS, Gurdasani D, Montgomery SB. DeGorter MK, et al. Among authors: goddard pc. bioRxiv [Preprint]. 2023 Nov 6:2023.11.04.564839. doi: 10.1101/2023.11.04.564839. bioRxiv. 2023. PMID: 37986808 Free PMC article. Preprint.
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. Among authors: goddard pc. medRxiv [Preprint]. 2024 Jan 12:2024.01.11.24301165. doi: 10.1101/2024.01.11.24301165. medRxiv. 2024. PMID: 38260490 Free PMC article. Preprint.
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD, Ni B, Reuter CM, Gorzynski JE, Fazal S, Bonner D, Ungar RA, Goddard PC, Raja A, Ashley EA, Bernstein JA, Zuchner S; Undiagnosed Diseases Network; Greicius MD, Montgomery SB, Schatz MC, Wheeler MT, Battle A. Jensen TD, et al. Among authors: goddard pc. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304565. doi: 10.1101/2024.03.22.24304565. medRxiv. 2024. PMID: 38585781 Free PMC article. Preprint.
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans.
Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA; Undiagnosed Diseases Network; Liu B, Majer O, Barton GM. Rael VE, et al. J Exp Med. 2024 Aug 5;221(8):e20232005. doi: 10.1084/jem.20232005. Epub 2024 May 23. J Exp Med. 2024. PMID: 38780621 Free PMC article.
Integrative genomic analysis in African American children with asthma finds three novel loci associated with lung function.
Goddard PC, Keys KL, Mak ACY, Lee EY, Liu AK, Samedy-Bates LA, Risse-Adams O, Contreras MG, Elhawary JR, Hu D, Huntsman S, Oh SS, Salazar S, Eng C, Himes BE, White MJ, Burchard EG. Goddard PC, et al. Genet Epidemiol. 2021 Mar;45(2):190-208. doi: 10.1002/gepi.22365. Epub 2020 Sep 29. Genet Epidemiol. 2021. PMID: 32989782 Free PMC article.
Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.
Mak ACY, White MJ, Eckalbar WL, Szpiech ZA, Oh SS, Pino-Yanes M, Hu D, Goddard P, Huntsman S, Galanter J, Wu AC, Himes BE, Germer S, Vogel JM, Bunting KL, Eng C, Salazar S, Keys KL, Liberto J, Nuckton TJ, Nguyen TA, Torgerson DG, Kwok PY, Levin AM, Celedón JC, Forno E, Hakonarson H, Sleiman PM, Dahlin A, Tantisira KG, Weiss ST, Serebrisky D, Brigino-Buenaventura E, Farber HJ, Meade K, Lenoir MA, Avila PC, Sen S, Thyne SM, Rodriguez-Cintron W, Winkler CA, Moreno-Estrada A, Sandoval K, Rodriguez-Santana JR, Kumar R, Williams LK, Ahituv N, Ziv E, Seibold MA, Darnell RB, Zaitlen N, Hernandez RD, Burchard EG; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Mak ACY, et al. Among authors: goddard p. Am J Respir Crit Care Med. 2018 Jun 15;197(12):1552-1564. doi: 10.1164/rccm.201712-2529OC. Am J Respir Crit Care Med. 2018. PMID: 29509491 Free PMC article.
Genetic Determinants of Telomere Length in African American Youth.
Zeiger AM, White MJ, Eng C, Oh SS, Witonsky J, Goddard PC, Contreras MG, Elhawary JR, Hu D, Mak ACY, Lee EY, Keys KL, Samedy LA, Risse-Adams O, Magaña J, Huntsman S, Salazar S, Davis A, Meade K, Brigino-Buenaventura E, LeNoir MA, Farber HJ, Bibbins-Domingo K, Borrell LN, Burchard EG. Zeiger AM, et al. Among authors: goddard pc. Sci Rep. 2018 Sep 5;8(1):13265. doi: 10.1038/s41598-018-31238-3. Sci Rep. 2018. PMID: 30185882 Free PMC article.
An epistatic interaction between pre-natal smoke exposure and socioeconomic status has a significant impact on bronchodilator drug response in African American youth with asthma.
Magaña J, Contreras MG, Keys KL, Risse-Adams O, Goddard PC, Zeiger AM, Mak ACY, Elhawary JR, Samedy-Bates LA, Lee E, Thakur N, Hu D, Eng C, Salazar S, Huntsman S, Hu T, Burchard EG, White MJ. Magaña J, et al. Among authors: goddard pc. BioData Min. 2020 Jul 3;13:7. doi: 10.1186/s13040-020-00218-7. eCollection 2020. BioData Min. 2020. PMID: 32636926 Free PMC article.
36 results