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810 results

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Page 1
A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated with Increased Risk for FTLD-TDP.
Chemparathy A, Guen YL, Zeng Y, Gorzynski J, Jensen T, Yang C, Kasireddy N, Talozzi L, Belloy ME, Stewart I, Gitler AD, Wagner AD, Mormino E, Henderson VW, Wyss-Coray T, Ashley E, Cruchaga C, Greicius MD. Chemparathy A, et al. Among authors: ashley e. medRxiv [Preprint]. 2023 Nov 17:2023.07.06.23292312. doi: 10.1101/2023.07.06.23292312. medRxiv. 2023. PMID: 37461476 Free PMC article. Preprint.
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's Disease pathology.
Chemparathy A, Guen YL, Chen S, Lee EG, Leong L, Gorzynski J, Xu G, Belloy M, Kasireddy N, Tauber AP, Williams K, Stewart I, Wingo T, Lah J, Jayadev S, Hales C, Peskind E, Child DD, Keene CD, Cong L, Ashley E, Yu CE, Greicius MD. Chemparathy A, et al. Among authors: ashley e. medRxiv [Preprint]. 2023 Jul 24:2023.07.20.23292771. doi: 10.1101/2023.07.20.23292771. medRxiv. 2023. PMID: 37547016 Free PMC article. Updated. Preprint.
Local read haplotagging enables accurate long-read small variant calling.
Kolesnikov A, Cook D, Nattestad M, McNulty B, Gorzynski J, Goenka S, Ashley EA, Jain M, Miga KH, Paten B, Chang PC, Carroll A, Shafin K. Kolesnikov A, et al. bioRxiv [Preprint]. 2023 Sep 12:2023.09.07.556731. doi: 10.1101/2023.09.07.556731. bioRxiv. 2023. PMID: 37745389 Free PMC article. Preprint.
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology.
Chemparathy A, Le Guen Y, Chen S, Lee EG, Leong L, Gorzynski JE, Jensen TD, Ferrasse A, Xu G, Xiang H, Belloy ME, Kasireddy N, Peña-Tauber A, Williams K, Stewart I, Talozzi L, Wingo TS, Lah JJ, Jayadev S, Hales CM, Peskind E, Child DD, Roeber S, Keene CD, Cong L, Ashley EA, Yu CE, Greicius MD. Chemparathy A, et al. Among authors: ashley ea. Neuron. 2024 Apr 3;112(7):1110-1116.e5. doi: 10.1016/j.neuron.2024.01.008. Epub 2024 Jan 31. Neuron. 2024. PMID: 38301647
Prediction of diagnosis and diastolic filling pressure by AI-enhanced cardiac MRI: a modelling study of hospital data.
Lehmann DH, Gomes B, Vetter N, Braun O, Amr A, Hilbel T, Müller J, Köthe U, Reich C, Kayvanpour E, Sedaghat-Hamedani F, Meder M, Haas J, Ashley E, Rottbauer W, Felbel D, Bekeredjian R, Mahrholdt H, Keller A, Ong P, Seitz A, Hund H, Geis N, André F, Engelhardt S, Katus HA, Frey N, Heuveline V, Meder B. Lehmann DH, et al. Among authors: ashley e. Lancet Digit Health. 2024 Jun;6(6):e407-e417. doi: 10.1016/S2589-7500(24)00063-3. Lancet Digit Health. 2024. PMID: 38789141
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.
Characteristics and outcomes of COVID-19 patients admitted to hospital with and without respiratory symptoms.
Citarella BW, Kartsonaki C, Ibáñez-Prada ED, Gonçalves BP, Baruch J, Escher M, Pritchard MG, Wei J, Philippy F, Dagens A, Hall M, Lee J, Kutsogiannis DJ, Wils EJ, Fernandes MA, Tirupakuzhi Vijayaraghavan BK, Panda PK, Martin-Loeches I, Ohshimo S, Fatoni AZ, Horby P, Dunning J, Rello J, Merson L, Rojek A, Vaillant M, Olliaro P, Reyes LF; ISARIC Clinical Characterisation Group. Citarella BW, et al. Heliyon. 2024 May 4;10(10):e29591. doi: 10.1016/j.heliyon.2024.e29591. eCollection 2024 May 30. Heliyon. 2024. PMID: 38779000 Free PMC article.
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. Among authors: ashley ea. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Investigation of Escherichia coli isolates from pigs and humans for colistin resistance in Lao PDR- a cross-sectional study.
Phomsisavath V, Roberts T, Seupsanith A, Robinson MT, Nammanininh P, Chanthavong S, Chansamouth V, Vongsouvath M, Theppangna W, Christensen P, Blacksell SD, Mayxay M, Ashley EA. Phomsisavath V, et al. Among authors: ashley ea. One Health. 2024 Apr 30;18:100745. doi: 10.1016/j.onehlt.2024.100745. eCollection 2024 Jun. One Health. 2024. PMID: 38725959 Free PMC article.
Molecular markers of artemisinin resistance during falciparum malaria elimination in Eastern Myanmar.
Thu AM, Phyo AP, Pateekhum C, Rae JD, Landier J, Parker DM, Delmas G, Watthanaworawit W, McLean ARD, Arya A, Reyes A, Li X, Miotto O, Soe K, Ashley EA, Dondorp A, White NJ, Day NP, Anderson TJC, Imwong M, Nosten F, Smithuis F. Thu AM, et al. Among authors: ashley ea. Malar J. 2024 May 8;23(1):138. doi: 10.1186/s12936-024-04955-6. Malar J. 2024. PMID: 38720269 Free PMC article.
810 results