Sarah L. King‐Smith

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

Anna Brown, Peer Arts, Catherine Carmichael et al. · Blood Advances · 2020 · 153 citations · Full text

Life Sciences, Genetics, Hematology +17

GATA2 deficiency syndrome: A decade of discovery

Claire C. Homan, Parvathy Venugopal, Peer Arts et al. · Human Mutation · 2021 · 72 citations · Full text

Life Sciences, Genetics, Hematology +15

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy

Claire C. Homan, Sarah L. King‐Smith, David Lawrence et al. · Haematologica · 2021 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Gemma R. Brett, Melissa Martyn, Fiona Lynch et al. · Genetics in Medicine · 2020 · 51 citations · Full text

Life Sciences, Genetics, Pediatrics +6