Blanche P. Alter

机构：National Institutes of Health, National Cancer Institute, Cancer Genetics (United States), Division of Cancer Epidemiology and Genetics · ORCID：0000-0001-8458-7774

发表论文 395 篇 · 总被引 20242 次 · h-index 75

代表论文

Disease progression and clinical outcomes in telomere biology disorders (2021 · Blood · 被引 101)
Evaluation and Management of Deficiency of Adenosine Deaminase 2 (2023 · JAMA Network Open · 被引 91)
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort (2022 · Haematologica · 被引 63)
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations (2024 · Blood · 被引 41)
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features (2022 · Pediatric Research · 被引 38)
Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2) (2021 · Cancer Genetics · 被引 34)