Alison A. Bertuch

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

Matthew N. Bainbridge, Georgina Armstrong, M. Monica Gramatges et al. · JNCI Journal of the National Cancer Institute · 2014 · 223 citations · Full text

Engineering, Genetics, Pathology +20

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Alyssa L. Kennedy, Kasiani C. Myers, James R. Bowman et al. · Nature Communications · 2021 · 161 citations · Full text

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants

Xi Luo, Simone Feurstein, Shruthi Mohan et al. · Blood Advances · 2019 · 151 citations · Full text

Somatic mutations and clonal hematopoiesis in congenital neutropenia

Jun Xia, Christopher A. Miller, Jack Baty et al. · Blood · 2017 · 118 citations · Full text