A family with acute leukemia, hypoplastic anemia and cerebellar ataxia

Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

A. Malcolm R. Taylor, D.G. Harnden, C.F. Arlett et al. · Nature · 1975 · 989 citations

Life Sciences, Genetics, Molecular Genetics +16

The syndrome of pancreatic insufficiency and bone marrow dysfunction

Harry Shwachman, Louis K. Diamond, Frank A. Oski et al. · The Journal of Pediatrics · 1964 · 578 citations

Medicine, Endocrinology, Hematology +14

Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection.

Elena Boder, Robert P. Sedgwick · PubMed · 1958 · 433 citations

Medicine, Neurology, Ophthalmology +15

Bloom’s Syndrome

James German · Dermatologic Clinics · 1995 · 422 citations

Chromosomal banding patterns in acute nonlymphocytic leukemia

JD Rowley, D Potter · Blood · 1976 · 346 citations · Full text

Life Sciences, Genetics, Hematology +14