Andrew Y. Shuen

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

Medicine, Pathology, Pediatrics +16

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Melyssa Aronson, Chrystelle Colas, Andrew Y. Shuen et al. · Journal of Medical Genetics · 2021 · 142 citations · Full text

Life Sciences, Genetics, Oncology +17

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations

Anita Villani, Scott Davidson, Nisha Kanwar et al. · Nature Cancer · 2022 · 127 citations · Full text

Medicine, Genetics, Oncology +17

BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

Erfan Aref‐Eshghi, Eric G. Bend, Rebecca L. Hood et al. · Nature Communications · 2018 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

Deidra J Osher, Kim De Leeneer, G Michils et al. · British Journal of Cancer · 2012 · 53 citations · Full text

Life Sciences, Genetics, Oncology +17