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Ashley S Thompson

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Citations 23
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Recent Articles
1.
Pearce E, Majid A, Brown T, Shepherd R, Rising C, Wilsnack C, et al.
JMIR Form Res . 2024 Dec; 8:e64343. PMID: 39680438
Background: Web-based information and social support are commonly used in rare disease communities where geographic dispersion and limited provider expertise complicate in-person support. We examined web-based resource use among caregivers...
2.
Pearce E, Majid A, Brown T, Wilsnack C, Rising C, Thompson A, et al.
SSM Qual Res Health . 2024 Nov; 6. PMID: 39554689
Background: Medical uncertainty may cause distress and challenge medical decision-making for patients with rare diseases and their caregivers. Few studies have examined the experience and management of medical uncertainty in...
3.
Wilsnack C, Rising C, Pearce E, Shepherd R, Thompson A, Majid A, et al.
Eur J Hum Genet . 2024 Oct; 32(12):1615-1623. PMID: 39354183
Families with rare diseases, such as telomere biology disorders (TBDs), may have extensive unmet needs given the heterogeneity, chronicity, and potential severity of illness. TBDs are rare inherited syndromes associated...
4.
Rising C, Shepherd R, Sleight A, Boyd P, Wilsnack C, Thompson A, et al.
J Adolesc Young Adult Oncol . 2024 Sep; PMID: 39331584
Adolescents and young adults (AYAs) with cancer predisposition syndromes often experience significant physical and psychosocial burdens. These burdens include cancer worry and potentially distressing bodily changes due to risk-reducing procedures...
5.
Thompson A, Niewisch M, Giri N, McReynolds L, Savage S
Am J Med Genet A . 2024 Sep; 197(2):e63882. PMID: 39279436
Rare germline variation in regulator of telomere elongation helicase 1 (RTEL1) is associated with telomere biology disorders (TBDs). Biallelic RTEL1 variants result in childhood onset dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome...
6.
Werner-Lin A, Shepherd R, Rising C, Thompson A, Huelsnitz C, Wilsnack C, et al.
Psychooncology . 2022 Dec; 32(3):375-382. PMID: 36514197
Objectives: Adolescents and young adult (AYA) cancer survivors face unique medical and psychosocial sequalae, including chronic health conditions, late effects of treatment and fear of recurrence. The meaning of cancer...
7.
Thompson A, Giri N, Gianferante D, Jones K, Savage S, Alter B, et al.
Pediatr Res . 2022 Mar; 92(6):1671-1680. PMID: 35322185
Background And Objectives: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account...
8.
Thompson A, Saba N, McReynolds L, Munir S, Ahmed P, Sajjad S, et al.
Mol Genet Genomic Med . 2021 May; 9(7):e1693. PMID: 33960719
Background: Fanconi anemia (FA) is an inherited bone marrow failure syndrome associated with characteristic dysmorphology primarily caused by biallelic pathogenic germline variants in any of 22 different DNA repair genes....
9.
McReynolds L, Wang Y, Thompson A, Ballew B, Kim J, Alter B, et al.
Biol Blood Marrow Transplant . 2020 Jan; 26(5):817-822. PMID: 31982544
Severe aplastic anemia (SAA) is most frequently immune-mediated; however, rare inherited bone marrow failure syndromes, such as Fanconi anemia (FA), may be causal and can present as aplastic anemia (AA)....