Ene-Choo Tan

25PUBLICATIONS
58CO-AUTHORS
NeonatologyEpigenetics (incl. genome methylation and epigenomics)Nanoscale characterisationNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
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Publications (25)

|Aug 26, 2025
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.

Harshini Hariram, Khadijah Rafi'ee, Jiin Ying Lim

|May 14, 2025
A Novel Homozygous 9385 bp Deletion in the FERMT1 (KIND1) Gene in a Malaysian Family with Kindler Epidermolysis bullosa and a Review of Large Deletions.

Alfred Klausegger, Fabian Leditzky, Susanne Krämer

|May 16, 2024
Epidermolytic epidermal nevus on the genitalia caused by a mosaic KRT10 mutation.

Kathleen Mitch Uy Gomez, Stephanie Koo, Mark Jean-Aan Koh

|Oct 06, 2023
The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.

Jia Ying Celeste Yap, Jiin Ying Lim, Anju Bhatia

|Jul 15, 2023
Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia.

Inne Arline Diana, Ene-Choo Tan, Srie Prihianti Gondokaryono

|Apr 24, 2023
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.

Grace Lin, Heming Wei, Angeline H M Lai

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Frequent Collaborators

7 joint publications

Mark Jean-Aan Koh

5 joint publications

Saumya Shekhar Jamuar

3 joint publications

Sylvia Kam

2 joint publications

Srie Prihianti Gondokaryono