Nicola Poplawski

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies

Maya Lewinsohn, Anna Brown, Luke M. Weinel et al. · Blood · 2015 · 219 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Familial hypercholesterolaemia: A model of care for Australasia

Gerald F. Watts, David Sullivan, Nicola Poplawski et al. · Atherosclerosis Supplements · 2011 · 201 citations · Full text

Public Health, Health Policy, Public Health Practice +8

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in<i>AIP</i>Mutation Carriers

Laura C. Hernández‐Ramírez, Plamena Gabrovska, Judit Dénes et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 170 citations · Full text

Medicine, Endocrinology, Genetics +17

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

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17