C
Chan-Eng Chong
Researcher at South Australia Pathology
Publications - 9
Citations - 967
Chan-Eng Chong is an academic researcher from South Australia Pathology. The author has contributed to research in topics: Missense mutation & Germline mutation. The author has an hindex of 6, co-authored 9 publications receiving 788 citations. Previous affiliations of Chan-Eng Chong include University of Adelaide.
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Journal ArticleDOI
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
Christopher N. Hahn,Christopher N. Hahn,Chan-Eng Chong,Chan-Eng Chong,Catherine Carmichael,Ella J Wilkins,Ella J Wilkins,Peter J. Brautigan,Xiaochun Li,Milena Babic,Ming-Chih Lin,Amandine Carmagnac,Young Koung Lee,Chung H. Kok,Lucia Gagliardi,Kathryn Friend,Paul G Ekert,Carolyn M. Butcher,Anna L. Brown,Ian D. Lewis,Ian D. Lewis,L. Bik To,L. Bik To,Andrew E. Timms,Jan Storek,Sarah Moore,Meryl Altree,Robert Escher,Robert Escher,Peter Bardy,Graeme Suthers,Graeme Suthers,Richard J D'Andrea,Richard J D'Andrea,Marshall S. Horwitz,Hamish S. Scott +35 more
TL;DR: The discovery of GATA2 as a new myelodysplastic syndrome (MDS)-acute myeloid leukemia (AML) predisposition gene is reported and differential effects of the mutations on the transactivation of target genes, cellular differentiation, apoptosis and global gene expression are shown.
Journal ArticleDOI
GATA2 is required for lymphatic vessel valve development and maintenance
Jan Kazenwadel,Kelly L. Betterman,Chan-Eng Chong,Philippa H. Stokes,Young Koung Lee,Genevieve A. Secker,Yan Agalarov,Cansaran Saygili Demir,David M. Lawrence,Drew L. Sutton,Sébastien Tabruyn,Naoyuki Miura,Marjo Salminen,Tatiana V. Petrova,Jacqueline M. Matthews,Christopher N. Hahn,Hamish S. Scott,Natasha L. Harvey +17 more
TL;DR: In this paper, a molecular explanation for lymphedema predisposition in a subset of patients with germline GATA2 mutations was provided, showing that Gata2 is required for both development and maintenance of lymphovenous and lymphatic vessel valve development.
Journal ArticleDOI
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies
Maya Lewinsohn,Anna L. Brown,Anna L. Brown,Luke M Weinel,Luke M Weinel,Connie Phung,George Rafidi,Ming K. Lee,Andreas W. Schreiber,Andreas W. Schreiber,Jinghua Feng,Milena Babic,Chan-Eng Chong,Young Phil Lee,Agnes S. M. Yong,Graeme Suthers,Graeme Suthers,Nicola K. Poplawski,Nicola K. Poplawski,Meryl Altree,Kerry Phillips,Louise Jaensch,Miriam Fine,Richard J D'Andrea,Richard J D'Andrea,Ian D. Lewis,Bruno C. Medeiros,Daniel A. Pollyea,Mary Claire King,Tom Walsh,Sioban Keel,Akiko Shimamura,Lucy A. Godley,Christopher N. Hahn,Christopher N. Hahn,Jane E. Churpek,Hamish S. Scott +36 more
TL;DR: This study expands both the mutation and phenotypic spectra observed in families with germ line DDX41 mutations, and shows that most asymptomatic mutation carriers have normal blood counts until malignancy develops.
Journal ArticleDOI
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Anna L. Brown,Anna L. Brown,Anna L. Brown,Peer Arts,Peer Arts,Catherine Carmichael,Milena Babic,Milena Babic,Julia Dobbins,Julia Dobbins,Chan-Eng Chong,Andreas W. Schreiber,Andreas W. Schreiber,Jinghua Feng,Jinghua Feng,Kerry Phillips,Paul Wang,Thuong Ha,Thuong Ha,Claire C. Homan,Claire C. Homan,Sarah L King-Smith,Sarah L King-Smith,Lesley Rawlings,Cassandra Vakulin,Andrew Dubowsky,Jessica Burdett,Sarah Moore,Grace McKavanagh,Denae Henry,Amanda Wells,Belinda Mercorella,Mario Nicola,Jeffrey Suttle,Ella J Wilkins,Xiaochun Li,Joëlle Michaud,Peter J. Brautigan,Peter J. Brautigan,Ping Cannon,Meryl Altree,Louise Jaensch,Miriam Fine,Carolyn M. Butcher,Carolyn M. Butcher,Richard J D'Andrea,Ian D. Lewis,Ian D. Lewis,Devendra K Hiwase,Devendra K Hiwase,Elli Papaemmanuil,Marshall S. Horwitz,Georges Natsoulis,Hugh Y. Rienhoff,Nigel Patton,Sally Mapp,Rachel Susman,Sue Morgan,Julian Cooney,Mark S. Currie,Uday R. Popat,Tilmann Bochtler,Shai Izraeli,Kenneth F. Bradstock,Lucy A. Godley,Alwin Krämer,Stefan Fröhling,Andrew H. Wei,Cecily Forsyth,Helen Mar Fan,Nicola K. Poplawski,Nicola K. Poplawski,Christopher N. Hahn,Christopher N. Hahn,Christopher N. Hahn,Hamish S. Scott +75 more
TL;DR: This is the largest aggregation and analysis of germline RUNX1 mutations performed to date, providing a unique opportunity to examine the factors underlying phenotypic differences and disease progression from FPD to MM.
Journal ArticleDOI
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Christopher P. Barnett,Christopher P. Barnett,Nathalie Nataren,Nathalie Nataren,Nathalie Nataren,Manuela Klingler-Hoffmann,Manuela Klingler-Hoffmann,Manuela Klingler-Hoffmann,Quenten Schwarz,Chan-Eng Chong,Young Kyung Lee,Damien L. Bruno,Jill Lipsett,Andrew J McPhee,Andrew J McPhee,Andreas W. Schreiber,Andreas W. Schreiber,Andreas W. Schreiber,Jinghua Feng,Jinghua Feng,Jinghua Feng,Christopher N. Hahn,Christopher N. Hahn,Christopher N. Hahn,Hamish S. Scott +24 more
TL;DR: This is the first report of mutations in a human disease with ectrodactyly with pulmonary acinar dysplasia and, as such, homozygous loss‐of‐function FGFR2 mutations represent a unique syndrome.