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Ashley S. Thompson

Observed names: Ashley S Thompson, Ashley Thompson, Thompson, Ashley S.
ORCID: 0000-0003-1663-0317
Observed ORCID: 0000-0003-1663-0317
OpenAlex ID: A5012835231
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features
2022 · Ashley S. Thompson, Neelam Giri, et al. · Pediatric Research · 40
The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature
2021 · Ashley S. Thompson, Nusrat Saba, et al. · Molecular Genetics & Genomic Medicine · 11
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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
2025 · Cristina Fortuno, Megan N. Frone, et al. · Genome Medicine · 10
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Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia
2020 · Lisa J. McReynolds, Youjin Wang, et al. · Transplantation and Cellular Therapy · 10
How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship? “With Li‐Fraumeni syndrome, it’s just an intermission”
2022 · Allison Werner‐Lin, Rowan Forbes Shepherd, et al. · Psycho-Oncology · 9
Germline RTEL1 Variants in Telomere Biology Disorders
2024 · Ashley S. Thompson, Marena R. Niewisch, et al. · American Journal of Medical Genetics Part A · 8
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Defining the complex needs of families with rare diseases—the example of telomere biology disorders
2024 · Catherine Wilsnack, Camella J. Rising, et al. · European Journal of Human Genetics · 5
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Relating to the Body Under Chronic Cancer Threat: Implications for Psychosocial Health Among Adolescents and Young Adults with Cancer Predisposition Syndromes
2024 · Camella J. Rising, Rowan Forbes Shepherd, et al. · Journal of Adolescent and Young Adult Oncology · 5
A “rotating menu” of medical uncertainty for families affected by telomere biology disorders: A qualitative interview study
2024 · Emily E. Pearce, Alina Majid, et al. · SSM - Qualitative Research in Health · 3
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation
2025 · Hasset T. Nurelegne, Mone't B. Thompson, et al. · Molecular Genetics & Genomic Medicine · 2
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“Crying in the Wilderness”—The Use of Web-Based Support in Telomere Biology Disorders: Thematic Analysis
2024 · Emily Eidenier Pearce, Alina Majid, et al. · JMIR Formative Research · 2
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‘I told them they had to get tested, and they did’: social influence among siblings with Li-Fraumeni syndrome
2025 · Chloe O. Huelsnitz, Allison Werner-Lin, et al. · Psychology and Health · 1
P262: Capturing the lived experiences, needs, and stories (LENS) of the Shwachman-Diamond syndrome community: Insights to inform clinical care and advocacy
2026 · Grace Lynch, Eszter Hars, et al. · Genetics in Medicine Open
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A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
2025 · Zambetti, Gerard P., Feng, Bingjian, et al. · Carolina Digital Repository (University of North Carolina at Chapel Hill)
Navigating disclosure in new romantic partnerships as an adolescent or young adult with Li-Fraumeni syndrome
2025 · Camella J. Rising, Chloe O. Huelsnitz, et al. · Familial Cancer
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Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome
2024 · Allison Werner-Lin, Payal P. Khincha, et al. · Rare
Five Novel Deleterious Variants in FANCA, FANCF and FANCG Identified in Pakistani Fanconi Anemia Families Using Exome Sequencing
2020 · Ashley S. Thompson, Nusrat Saba, et al.
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Works count: 21
Citation count: 106
H-index: 6
I10-index: 4
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