Lucy Fox

Methyl-CpG binding domain 4, DNA glycosylase (MBD4)-associated neoplasia syndrome associated with a homozygous missense variant in MBD4: Expansion of an emerging phenotype

Piers Blombery, Georgina L Ryland, Lucy C Fox, Zornitza Stark, Meg Wall, Anna Jarmolowicz, Ain Roesley, Ella R Thompson, Sean M Grimmond, Shyam Panicker, Fiona Kwok

Journal article  |  2022  |  BRITISH JOURNAL OF HAEMATOLOGY

Germline testing in haematology – who and why

Lucy C Fox

Journal article  |  2022  |  Pathology

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, et al.

Journal article  |  2022  |  GENETICS IN MEDICINE

PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genet..

THE AUSTRALIAN APLASTIC ANAEMIA AND OTHER RELATED BONE MARROW DISEASES REGISTRY (AAR): BLOOD PRODUCT USE IN THE IDIOPATHIC APLASTIC ANAEMIA (iAA) COHORT

Lucy Fox, Xavier Badoux, Ashish Bajel, Pasquale Barbaro, Merrole Cole-Sinclair, Frank Firkin, Cecily Forsyth, Vanessa Fox, John Gibson, Divendra Hiwase, Anna Johnston, Zoe McQuilten, Anthony Mills, Susan Morgan, Stephen Opat, Fernando Roncolato, Stephen Ting, Jeff Szer, Neil Waters, Daniela Zantomio, et al.

Conference Proceedings  |  2021  |  INTERNAL MEDICINE JOURNAL

Proliferative Glomerulonephritis With Fibrils, Monoclonal kappa Light Chain, and C3 Deposits

Adam G Steinberg, Lucy C Fox, Sebastien Bender, Ahida Batrouney, Surender Juneja, Christophe Sirac, Guy Touchard, Piers Blombery, Moira J Finlay, Frank Bridoux, Thomas D Barbour

Journal article  |  2021  |  AMERICAN JOURNAL OF KIDNEY DISEASES

There is increasing recognition of monoclonal gammopathy as a cause of proliferative glomerulonephritis (GN), including cases in w..

Transient, flexible gene editing in zebrafish neutrophils and macrophages for determination of cell-autonomous functions

Abdulsalam I Isiaku, Zuobing Zhang, Vahid Pazhakh, Harriet R Manley, Ella R Thompson, Lucy C Fox, Satwica Yerneni, Piers Blombery, Graham J Lieschke

Journal article  |  2021  |  DISEASE MODELS & MECHANISMS

Zebrafish are an important model for studying phagocyte function, but rigorous experimental systems to distinguish whether phagocy..

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes

Piers Blombery, Lucy C Fox, Georgina L Ryland, Ella R Thompson, Jennifer Lickiss, Michelle McBean, Satwica Yerneni, David Hughes, Anthea Greenway, Francoise Mechinaud, Erica M Wood, Graham J Lieschke, Jeff Szer, Pasquale Barbaro, John Roy, Joel Wight, Elly Lynch, Melissa Martyn, Clara Gaff, David Ritchie

Journal article  |  2021  |  HAEMATOLOGICA

Bone marrow failure (BMF) related to hypoplasia of hematopoietic elements in the bone marrow is a heterogeneous clinical entity wi..