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Adj Assoc Prof Tan Ene Choo

Adj Assoc Prof Tan Ene Choo


KK Women's and Children's Hospital

Clinical Appointments

  • Chief Research Scientist and Principal Investigator KK Research Centre KK Women's and Children's HospitalKK Women's and Children's Hospital


Dr Tan Ene Choo obtained her PhD from the Institute of Molecular and Cell Biology when it was still part of the National University of Singapore, working on identifying brain-expressed genes from human chromosome 21. Following that, she was a lecturer at Nanyang Technological University for a few years before returning to full-time research at the Institute of Molecular and Cell Biology, this time working on the genetics of complex diseases such as asthma and psychiatric disorders. She was in the Population Genetics Programme of Defence Medical Research Institute before joining KK Women's and Children's Hospital where she started the chromosomal microarray analysis and next-generation sequencing for congenital disorders. She has conducted research and published in diverse areas such as molecular genetics, herpetology, epidemiology, population genetics, maternal-foetal medicine, mental disorders, acute and chronic pain, pharmacogenomics, molecular cytogenetics and syndromic disorders.


  • PhD National University of Singapore 1991
  • MS University of Wisconsin - Madison 1983
  • BS Texas Tech University 1980

Professional Appointments and Committee Memberships

  • Chief Research Scientist and Principal Investigator, KK Research Centre, KKH
  • Adjunct Associate Professor, Paediatrics Academic Clinical Program, SingHealth - Duke-NUS Medical School


Research Interests

  • Genetics of neurological and congenital disorders
  • Genetic variants in susceptibility to multi-factorial disorders and traits
  • Pattern of genomic variations in the human genome


  • Wei H, Lai A, Tan ES, Koh MJA, Ng I, Ting TW, Thomas T, Cham B, Lim JY, Kam S, CYJ Goh, Lin G, Brett M, Chan D, Jamuar SS, Tan EC (2021): Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes. Arch Dis Child. 106:3843
  • Bousman CA, Bengesser SA, Aitchison KJ, Amare AT, Aschauer H, Baune BT, Asl BB, Bishop JR, Burmeister M, Chaumette B, Chen LS, Cordner ZA, Deckert J, Degenhardt F, DeLisi LE, Folkersen L, Kennedy JL, Klein TE, McClay JL, McMahon FJ, Musil R, Saccone NL, Sangkuhl K, Stowe RM, Tan EC, Tiwari AK, Zai CC, Zai G, Zhang J, Gaedigk A, Müller DJ (2020): Review and Consensus on Pharmacogenomic Testing in Psychiatry. Pharmacopsychiatry Nov 4. doi: 10.1055/a-1288-1061.
  • Yeo JJ, Sia A, Sultana R, Sng BL, Tan EC (2020): Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy. Pain Medicine (in press)
  • Wei H, Tan ES, Jamuar S, Lai AHM Ng I, Tan EC (2020): Additional individuals with CHD7 variants in Chinese and other southeast Asian patients. Am J Med Genet 182(3):576–578.
  • Lian S, Ting TW, Lai AHM, Tan ES, Tan EC: Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene. J Neurological Sc 15:116819
  • Tan HS, Gan YT, Tan EC, Nagarajan S, Sultana R, Han NLR, Sia ATH, Sng BL (2020): Association of renin-angiotensin-aldosterone system genetic polymorphisms with maternal hypotension during spinal anaesthesia for caesarean delivery - a retrospective cohort study. International Journal of Obstetric Anesthesia 44:3–12.
  • Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group (2020): The Singapore Undiagnosed Disease Program: Phenotype-Driven Genomic Analysis Aids Diagnosis And Clinical Management. Arch Dis Child. 106:31-37
  • Yap CS, Jamuar SS, Lai AHM, Ng I, Ting TW, Tan EC (2020): Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders. Gene 731:144360
  • Wei HM, Krishnappa J, Lin G, Kavalloo N, Lim JY, Goh CYJ, Jamuar SS, Thomas T, Tan EC (2020): Microcephaly with simplified gyral pattern in a child with a de novo TUBA1A variant. Am J Med Genet 182(3):576–578.
  • Loke MF, Wei HM, Teo JJ, Sng BL, Sia A, Tan EC (2019): Deep sequencing to identify novel and rare variants in pain-related genes in patients with high morphine use and acute post-operative pain. J Pain Research 12:2755–2770.
  • Koh AL, Tan ES, Brett M, Lai AHM, Jamuar SS, Ng I, Tan EC (2019): The spectrum of genetic variants and phenotypic features of Southeast Asian Patients with Noonan syndrome. Mol Genet Genom Med 7(4):e00581
  • Bylstra Y, Kuan JL, Lim WK, Teo JX, Digambar BJ, Davila S, Tan EC, Cheng CY, Liew W, Teh BT, Cook S, The SinGapore Incidental Finding (SGIF) study group, Foo R, Tan P, Jamuar SS (2019): Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable forms of intellectual disability. Genet in Med 21(1): 207–212
  • Tan EC, Lim HW, Chua TE, Tan HS, Lee TMY, Chen HY (2018): Investigation of variants in estrogen receptor genes and perinatal depression. Neuropsychiatr Dis Treat. 14:919–925.
  • Loo BKG, Batilando MJ, Tan EC, Koh MJA (2018): Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis. BMJ Case Rep bcr-2017-222025.
  • Lim HW, Saw WY, Feng L, Lee YK, Mahendran R, Cheah IKM, Rawtaer I, Kumar AP, Kua EH, Mahendran R, Tan EC (2018): Dataset on gene expression in the elderly after Mindfulness Awareness Practice or Health Education Program. Data in Brief 18:902–912.
  • Nagaputra JC, Koh MJA, Brett M, Lim ECP, Lim HW, Tan EC (2018): Piebaldism with Multiple Café-au-lait-like Hyperpigmented Macules and Inguinal Freckling Caused by a Novel KIT Mutation. JAAD Case Rep 4(4):318–321.
  • Tan EC, Lim HW, Lim EC, Lee ST (2017): A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family with Van der Woude Syndrome. Cleft Palate Craniofac J 54(4):442–445.
  • Brett M, Lai AHM, Ting TW, Tan AM, Foo R, Jamuar, S, Tan EC (2017): Acute Lymphoblastic Leukemia in a Child With a De Novo Germline GNB1 Mutation. Am J Med Genet 173(2):550–552.
  • Brett M, Korovesis G, Lai AH, Tan EC (2017): Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event. J Hum Genet. 62(7):711–715.
  • Lee SP, Hande P, Yeo GSH, Tan EC (2017): Correlation of cord blood telomere length with birth weight. BMC Research Notes 10(1):469.
  • Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K (2016): ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-mediated Transport Defects. Am J Hum Genet 99:451–459.
  • Tan EC, Lim EC, Ocampo CE, Allen JC, Sng BL, Sia AT (2016): Common variants of catechol-O-methyltransferase influence patient-controlled analgesia usage and postoperative pain in patients undergoing total hysterectomy. Pharmacogenomics J. 16:186–192.
  • Jamuar SS, Kuan JY, Brett M, Tiang Z, Tan WLW, Lim JY, Liew WKM, Javed A, Liew WK, Law HY, Tan ES, Lai A, Ng I, Teo YY, Venkatesh B, Reversade, B, Tan EC, Foo R (2016): Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine? EBioMedicine 5:211–216.
  • Somogyi A, Sia AT, Tan EC, Coller JK, Hutchinson MR, Barratt DT (2016): Ethnicity-dependent influence of innate immune genetic markers on morphine PCA requirements and adverse effects in postoperative pain. Pain 157(11):2458–2466.
  • Tan EC, Chua TE, Lee TM, Tan HS, Ting JL, Chen HY (2015): Case-control study of glucocorticoid receptor and corticotrophin-releasing hormone receptor gene variants and risk of perinatal depression. BMC Pregnancy Childbirth. 15:283.
  • Lim EC, Brett M, Lai AH, Lee SP, Tan ES, Jamuar SS, Ng IS, Tan EC (2015): Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients. Hum Genomics. 9:33
  • Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK (2015): Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 174:1405–1411.
  • Ting TW, Jamuar SS, Brett MS, Tan ES, Cham BW, Lim JY, Law HY, Tan EC, Choo JT, Lai AH (2015): Left Ventricular Non-compaction: Is It Genetic? Pediatr Cardiol. 572:274-278.
  • Jamuar SS, Tan EC (2015): Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics. 9:10.
  • Ting TW, Brett MS, Tan ES, Shen Y, Lee SP, Lim EC, Vasanwala RF, Lek N, Thomas T, Lim KW, Tan EC. (2015): Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion. Gene 572:274–278.
  • Tan ES, Yong MH, Lim EC, Li ZH, Brett MS, Tan EC (2014): Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern. Molecular Cytogenetics 7:32. (2014 IF:2.140 / 5-year IF:2.046)
  • Brett M, McPherson J, Zang ZJ, Lai A, Tan ES, Ng I, Ong LC, Cham B, Tan P, Rozen S, Tan EC (2014): Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel. PLoS One 9(4):e93409.
  • Tan EC, Tan HS, Chua TE, Lee T, Ng J, Ch'ng YC, Choo CH, Chen HY (2014): Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene. Journal of Affective Disorders 161:43–46. (2014 IF:3.383 /5-year IF:3.939)
  • Tan ES, Yong MH, Lim EC, Li ZH, Brett MS, Tan EC (2014): Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern. Molecular Cytogenetics 7:32. (2014 IF:2.140 / 5-year IF:2.046)
  • Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK (2015): Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature. Eur J Pediatr. 174:1405–1411.
  • Brett MS, Ng IS, Lim EC, Yong MH, Li Z, Lai A, Tan EC (2013): De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability. Gene. 517(1):82–88.
  • Lim ECP, Ng ISL, Yong MH, Yon HY, Brett MS, Tan EC (2013): De novo Trisomy 12p in Twin Girls with Different Levels of Mosaicism. American Journal of Medical Genetics 161(7): 1702–1705.
  • Lim SN, Yahya Z, Zeegers D, Moe T, Kyaw EEP, Yeo GSH, Hande MP, Tan EC (2013): Distribution of Telomere Length in the Cord Blood of Chinese Newborns. British Journal of Medicine and Medical Research. 3(4):1004–1014.
  • Sia AT, Lim Y, Lim ECP, Ocampo CE, Lim WY, Cheong P, Tan EC (2013). Influence of Mu-opioid receptor variant on morphine use and self-rated pain following abdominal hysterectomy. Journal of Pain. 14(10):1045–1052
  • Tan EC, Lim ECP, Lee ST (2013): De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. Molecular Cytogenetics 6:31
  • Lai AH, Brett MS, Chin WH, Lim EC, Ng JS, Tan EC (2012): A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. Gene. 499(1):182–185
  • Tan EC, Lim E, Cham B, Knight L, Ng I. (2011): Partial Trisomy 3p and Partial Monosomy 11q Associated with Atrial Septal Defect, Cleft Palate, and Developmental Delay: A Case Report. Cytogenetic and Genome Research 134:319324
  • Ng ISL, Chin WH, Lim ECP, Tan EC (2011): An Additional Case of the Recurrent 15q24.1 Microdeletion Syndrome and Review of the Literature. Twin Research & Human Genetics 14:333–339
  • Tan EC, Lim L, Leong JY, Lim JY, Lee A, Yang J, Tan CH, Winslow M (2010): Alcohol and aldehyde dehydrogenase polymorphisms in Chinese and Indian populations. Substance Use and Misuse 45:1–14.
  • Sia AT, Sng BL, Lim EC, Law H, Tan EC (2010): The influence of ATP-binding cassette sub-family B member -1 (ABCB1) genetic polymorphisms on acute and chronic pain after intrathecal morphine for caesarean section - a prospective cohort study. International Journal of Obstetric Anesthesia 19:254–260.

Research Trials