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Search life-sciences literature (45,100,050 articles, preprints and more)

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Use of tools for assessing the methodological quality of primary research in leading neurosurgical journals: A review of reviews.
Savage AJ, Shafik CG, Savage SA, Catalano JD, Tee JW, Akhlaghi H, Dhillon RS, O'Donohoe TJ
J Clin Neurosci, 130:110916, 11 Nov 2024
Cited by: 0 articles | PMID: 39531977
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Genetic regulation ofTERTsplicing contributes to reduced or elevated cancer risk by altering cellular longevity and replicative potential
Florez-Vargas O, Ho M, Hogshead M, Lee C, Papenberg BW, Forsythe K, Jones K, Luo W, Teshome K, Blauwendraat C, Billingsley KJ, Kolmogorov M, Meredith M, Paten B, Chari R, Zhang C, Schneekloth JS, Machiela MJ, Chanock SJ, [...] Prokunina-Olsson L
medRxiv, 05 Nov 2024
Cited by: 0 articles | PPR: PPR935997
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Polygenic modifiers of expressivity in telomere biology disorders
Poeschla M, Arora UP, Walne A, McReynolds LJ, Niewisch MR, Giri N, Zeigler L, Gusev A, Machiela MJ, Tummala H, Savage SA, Sankaran VG
medRxiv, 21 Oct 2024
Cited by: 0 articles | PPR: PPR928173
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Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.
Nakano Y, Kuiper RP, Nichols KE, Porter CC, Lesmana H, Meade J, Kratz CP, Godley LA, Maese LD, Achatz MI, Khincha PP, Savage SA, Doria AS, Greer MC, Chang VY, Wang LL, Plon SE, Walsh MF
Clin Cancer Res, 30(22):5009-5020, 01 Nov 2024
Cited by: 0 articles | PMID: 39264246
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Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.
Savage SA, Bertuch AA, Team Telomere and the Clinical Care Consortium for Telomere‐Associated Ailments (CCCTAA)
Br J Haematol, 27 Oct 2024
Cited by: 0 articles | PMID: 39462986
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Defining the complex needs of families with rare diseases-the example of telomere biology disorders.
Wilsnack C, Rising CJ, Pearce EE, Forbes Shepherd R, Thompson AS, Majid A, Werner-Lin A, Savage SA, Hutson SP
Eur J Hum Genet, 01 Oct 2024
Cited by: 0 articles | PMID: 39354183
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A "rotating menu" of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study.
Pearce E, Majid A, Brown T, Wilsnack C, Rising C, Thompson AS, Shepherd RF, Niknafs A, Werner-Lin A, Gilkey MB, Ribisl KM, Hutson SP, Han PKJ, Savage SA
SSM Qual Res Health, 6:100486, 05 Oct 2024
Cited by: 0 articles | PMID: 39554689
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Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescuing and cancer mutations.
Gutierrez-Rodrigues F, Groarke EM, Thongon N, Rodriguez-Sevilla JJ, Bazzo Catto LF, Niewisch MR, Shalhoub RN, McReynolds LJ, Clé DV, Patel BA, Ma X, Hironaka D, Donaires FS, Spitofsky NR, Santana BA, Lai TP, Alemu L, Kajigaya S, Darden I, [...] Calado RT
Blood, blood.2024025023, 24 Sep 2024
Cited by: 0 articles | PMID: 39316766
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Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.
MacFarland SP, Becktell K, Schneider KW, Kuiper RP, Lesmana H, Meade J, Nichols KE, Porter CC, Savage SA, Schultz KA, Scott H, States L, Tabori U, Tamura C, Tomlinson G, Zelley K, Durno C, Bauer A, Plon SE
Clin Cancer Res, 30(20):4566-4571, 01 Oct 2024
Cited by: 0 articles | PMID: 39190470
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Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.
Maese LD, Wlodarski MW, Kim SY, Bertuch AA, Bougeard G, Chang VY, Godley LA, Khincha PP, Kuiper RP, Lesmana H, McGee RB, McReynolds LJ, Meade J, Plon SE, Savage SA, Scollon SR, Scott HS, Walsh MF, Nichols KE, Porter CC
Clin Cancer Res, 30(19):4286-4295, 01 Oct 2024
Cited by: 0 articles | PMID: 39078402
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Germline RTEL1 Variants in Telomere Biology Disorders.
Thompson AS, Niewisch MR, Giri N, McReynolds LJ, Savage SA
Am J Med Genet A, e63882, 16 Sep 2024
Cited by: 0 articles | PMID: 39279436
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Characterizing Lung Cancer in Li-Fraumeni Syndrome.
Hatton JN, Kucera J, Seastedt KP, de Andrade KC, Savage SA, Khincha PP, Hoang CD
JAMA Oncol, 10(9):1284-1287, 01 Sep 2024
Cited by: 0 articles | PMID: 39088209
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Exploring the everyday impacts and memory intervention needs of people with transient epileptic amnesia: A qualitative study.
Savage SA, Cavuoto MG, Pike KE
Neuropsychol Rehabil, 1-25, 12 Aug 2024
Cited by: 0 articles | PMID: 39133526
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Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes.
Stratton P, Giri N, Bhala S, Sklavos MM, Alter BP, Savage SA, Pinto LA
Endocr Connect, 13(9):e230510, 07 Aug 2024
Cited by: 0 articles | PMID: 39032500 | PMCID: PMC11378136
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Telomere length and clonal chromosomal alterations in peripheral blood of patients with severe aplastic anaemia.
Strauss JD, Brown DW, Zhou W, Dagnall C, Yuan JM, Im A, Savage SA, Wang Y, Rafati M, Spellman SR, Gadalla SM
Br J Haematol, 205(3):1180-1187, 05 Aug 2024
Cited by: 0 articles | PMID: 39103182
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When the somatic genome informs the germline: the example of TP53.
Khincha PP, Savage SA
J Natl Cancer Inst, 116(8):1190-1192, 01 Aug 2024
Cited by: 0 articles | PMID: 38908000 | PMCID: PMC11308161
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Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.
Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, [...] Tabori U
Clin Cancer Res, 30(16):3378-3387, 01 Aug 2024
Cited by: 0 articles | PMID: 38860976
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Reply: Accurate predictor for liver disease progression in patients with DC/TBD.
Giri N, Niewisch MR, Rosenberg PS, Vittal A, Savage SA, Heller T
Hepatology, 80(4):E61-E62, 17 Jul 2024
Cited by: 0 articles | PMID: 39024339
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Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.
Wang YM, Kaj-Carbaidwala B, Lane A, Agarwal S, Beier F, Bertuch A, Borovsky KA, Brennan SK, Calado RT, Catto LFB, Dufour C, Ebens CL, Fioredda F, Giri N, Gloude N, Goldman F, Hertel PM, Himes R, Keel SB, [...] Clinical Care Consortium for Telomere-associated Ailments (CCCTAA)
Hepatol Commun, 8(7):e0462, 19 Jun 2024
Cited by: 0 articles | PMID: 38896081 | PMCID: PMC11186813
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Rehabilitation Services for Young-Onset Dementia: Examples from High- and Low-Middle-Income Countries.
Suárez-González A, Savage SA, Alladi S, Amaral-Carvalho V, Arshad F, Camino J, Caramelli P, Comas-Herrera A, Cook J, Cooper C, García Díaz L, Grasso SM, Jokel R, Lavoie M, León T, Priya T, Ramos Franco T, Taylor-Rubin C, Townsend R, [...] O'Connor CM
Int J Environ Res Public Health, 21(6):790, 17 Jun 2024
Cited by: 0 articles | PMID: 38929036
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Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease.
Sanchez SE, Gu Y, Wang Y, Golla A, Martin A, Shomali W, Hockemeyer D, Savage SA, Artandi SE
Nat Commun, 15(1):5148, 18 Jun 2024
Cited by: 2 articles | PMID: 38890274 | PMCID: PMC11189511
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Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.
Rafati M, McReynolds LJ, Wang Y, Hicks B, Jones K, Spellman SR, He M, Bolon YT, Arrieta-Bolaños E, Saultz JN, Lee SJ, Savage SA, Gadalla SM
Transplant Cell Ther, 30(8):770.e1-770.e10, 27 May 2024
Cited by: 0 articles | PMID: 38810947
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The Use of Social Media to Express and Manage Medical Uncertainty in Dyskeratosis Congenita: Content Analysis.
Pearce E, Raj H, Emezienna N, Gilkey MB, Lazard AJ, Ribisl KM, Savage SA, Han PK
JMIR Infodemiology, 4:e46693, 15 Jan 2024
Cited by: 0 articles | PMID: 38224480 | PMCID: PMC10825764
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Telomere length and cancer risk: finding Goldilocks.
Savage SA
Biogerontology, 25(2):265-278, 18 Dec 2023
Cited by: 7 articles | PMID: 38109000
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Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease
Sanchez SE, Gu J, Golla A, Martin A, Shomali W, Hockemeyer D, Savage SA, Artandi SE
bioRxiv, 01 Dec 2023
Cited by: 0 articles | PPR: PPR767268
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