Chan-eng Chong

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 8 publications

Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.

Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.

Journal: Human mutation
Published: January 29, 2020

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

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

Journal: Blood advances
Published: August 27, 2019

miR-3099 promotes neurogenesis and inhibits astrogliogenesis during murine neural development.

miR-3099 promotes neurogenesis and inhibits astrogliogenesis during murine neural development.

Journal: Gene
Published: October 16, 2018

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.

Journal: BMC endocrine disorders
Published: May 04, 2016

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Journal: Human mutation
Published: February 11, 2016

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

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

Journal: Blood
Published: October 19, 2015

GATA2 is required for lymphatic vessel valve development and maintenance.

GATA2 is required for lymphatic vessel valve development and maintenance.

Journal: The Journal of clinical investigation
Published: September 04, 2014

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Journal: Blood
Published: December 08, 2011
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Last Updated: 09/26/2026