Desiree DeMille

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)

Jamie McDonald, Pınar Bayrak‐Toydemir, Desiree DeMille et al. · Genetics in Medicine · 2020 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition

Jiarna R. Zerella, Claire C. Homan, Peer Arts et al. · Blood · 2024 · 15 citations · Full text

Life Sciences, Genetics, Hematology +17

Three novel <i>GJB2</i> (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

Desiree DeMille, Colleen M. Carlston, Oliver H. Tam et al. · American Journal of Medical Genetics Part A · 2018 · 13 citations

Life Sciences, Genetics, Molecular Genetics +12