Publications by authors named "Ene-Choo Tan"

70Publications

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients.

Am J Med Genet A 2020 10 17;182(10):2461-2465. Epub 2020 Aug 17.

Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61798DOI Listing
October 2020

Analysis of SCN9A Gene Variants for Acute and Chronic Postoperative Pain and Morphine Consumption After Total Hysterectomy.

Pain Med 2020 May 13. Epub 2020 May 13.

Research Laboratory, KK Women's and Children's Hospital and Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.

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http://dx.doi.org/10.1093/pm/pnaa109DOI Listing
May 2020

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene.

J Neurol Sci 2020 Jul 4;414:116819. Epub 2020 Apr 4.

Research Laboratory, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2020.116819DOI Listing
July 2020

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

Gene 2020 Mar 11;731:144360. Epub 2020 Jan 11.

Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2020.144360DOI Listing
March 2020

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.

Am J Med Genet A 2020 02 17;182(2):296-302. Epub 2019 Dec 17.

Research Laboratory, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61447DOI Listing
February 2020

Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.

Am J Med Genet A 2020 03 12;182(3):576-578. Epub 2019 Dec 12.

Research Laboratory, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.61444DOI Listing
March 2020

The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.

Mol Genet Genomic Med 2019 04 19;7(4):e00581. Epub 2019 Feb 19.

Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/mgg3.581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465663PMC
April 2019

Piebaldism with multiple café-au-lait-like hyperpigmented macules and inguinal freckling caused by a novel mutation.

JAAD Case Rep 2018 May 31;4(4):318-321. Epub 2018 Mar 31.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.

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http://dx.doi.org/10.1016/j.jdcr.2017.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911795PMC
May 2018

Investigation of variants in estrogen receptor genes and perinatal depression.

Neuropsychiatr Dis Treat 2018 29;14:919-925. Epub 2018 Mar 29.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.

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http://dx.doi.org/10.2147/NDT.S160424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880413PMC
March 2018

Compound heterozygous mutations with novel missense mutation in harlequin ichthyosis.

BMJ Case Rep 2018 Jan 3;2018. Epub 2018 Jan 3.

Department of Dermatology, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1136/bcr-2017-222025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5775800PMC
January 2018

Correlation of cord blood telomere length with birth weight.

BMC Res Notes 2017 Sep 8;10(1):469. Epub 2017 Sep 8.

Research Laboratory, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, Singapore.

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http://dx.doi.org/10.1186/s13104-017-2791-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591543PMC
September 2017

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.

J Hum Genet 2017 Jul 23;62(7):711-715. Epub 2017 Mar 23.

KK Research Laboratory, KK Women's and Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1038/jhg.2017.32DOI Listing
July 2017

Acute lymphoblastic leukemia in a child with a de novo germline gnb1 mutation.

Am J Med Genet A 2017 02 19;173(2):550-552. Epub 2016 Oct 19.

Research Laboratory, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.38026DOI Listing
February 2017

Ethnicity-dependent influence of innate immune genetic markers on morphine PCA requirements and adverse effects in postoperative pain.

Pain 2016 11;157(11):2458-2466

aDiscipline of Pharmacology, School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia bDepartment of Clinical Pharmacology, Royal Adelaide Hospital, Adelaide, South Australia, Australia cKK Research Centre, KK Women's and Children's Hospital, Singapore dDepartment of Women's Anesthesia, KK Women's and Children's Hospital, Singapore ePaediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore fDiscipline of Physiology, School of Medicine, Faculty of Health Sciences, University of Adelaide, Adelaide, South Australia, Australia gAustralian Research Council Centre of Excellence for Nanoscale BioPhotonics, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1097/j.pain.0000000000000661DOI Listing
November 2016

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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http://dx.doi.org/10.1016/j.ajhg.2016.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974084PMC
August 2016

Investigating analgesic and psychological factors associated with risk of postpartum depression development: a case-control study.

Neuropsychiatr Dis Treat 2016 9;12:1333-9. Epub 2016 Jun 9.

Department of Women's Anaesthesia, KK Women's and Children's Hospital, Singapore; Duke-NUS Medical School, KK Women's and Children's Hospital, Singapore.

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https://www.dovepress.com/investigating-analgesic-and-psycho
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http://dx.doi.org/10.2147/NDT.S105918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908936PMC
June 2016

A Novel Interferon Regulatory Factor 6 Mutation in an Asian Family With Van der Woude Syndrome.

Cleft Palate Craniofac J 2017 07 31;54(4):442-445. Epub 2016 May 31.

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http://dx.doi.org/10.1597/15-327DOI Listing
July 2017

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

EBioMedicine 2016 Mar 4;5:211-6. Epub 2016 Feb 4.

Genome Institute of Singapore, ASTAR, Singapore; Cardiovascular Research Institute, National University of Singapore, National University Health System, Singapore.

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http://dx.doi.org/10.1016/j.ebiom.2016.01.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4816806PMC
March 2016

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Hum Genomics 2015 Dec 14;9:33. Epub 2015 Dec 14.

KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

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http://dx.doi.org/10.1186/s40246-015-0055-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678573PMC
December 2015

Case-control study of glucocorticoid receptor and corticotrophin-releasing hormone receptor gene variants and risk of perinatal depression.

BMC Pregnancy Childbirth 2015 Oct 30;15:283. Epub 2015 Oct 30.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, 8 College Road, Singapore, 169857, Singapore.

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http://bmcpregnancychildbirth.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s12884-015-0720-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628323PMC
October 2015

DICER1 deletion and 14q32 microdeletion syndrome: an additional case and a review of the literature.

Clin Dysmorphol 2016 Jan;25(1):37-40

aDepartment of Paediatrics bKK Research Centre cDNA Diagnostic and Research Laboratory, KK Women's and Children's Hospital dPaediatric Academic Clinical Programme, Singhealth Duke-NUS Graduate School of Medicine, Singapore, Singapore.

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http://pdfs.journals.lww.com/clindysmorphol/2016/01000/DICER
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MCD.0000000000000105DOI Listing
January 2016

Left Ventricular Non-compaction: Is It Genetic?

Pediatr Cardiol 2015 Dec 25;36(8):1565-72. Epub 2015 Jun 25.

Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore.

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http://dx.doi.org/10.1007/s00246-015-1222-5DOI Listing
December 2015

Clinical application of next-generation sequencing for Mendelian diseases.

Hum Genomics 2015 Jun 16;9:10. Epub 2015 Jun 16.

Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore, Singapore.

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http://humgenomics.biomedcentral.com/articles/10.1186/s40246
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http://dx.doi.org/10.1186/s40246-015-0031-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4482154PMC
June 2015

Chromosome 15q11-q13 copy number gain detected by array-CGH in two cases with a maternal methylation pattern.

Mol Cytogenet 2014 16;7:32. Epub 2014 May 16.

KK Research Laboratory, KK Women's & Children's Hospital, 100 Bukit Timah Road 229899 Singapore, Singapore ; Office of Clinical Sciences, Duke-NUS Graduate Medical School, 8 College Road 169857 Singapore, Singapore.

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http://dx.doi.org/10.1186/1755-8166-7-32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067100PMC
June 2014

Association of premenstrual/menstrual symptoms with perinatal depression and a polymorphic repeat in the polyglutamine tract of the retinoic acid induced 1 gene.

J Affect Disord 2014 Jun 15;161:43-6. Epub 2014 Mar 15.

Office of Clinical Sciences, Duke-NUS Graduate Medical School, Singapore; Department of Psychological Medicine, KK Women׳s and Children׳s Hospital, Singapore.

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https://linkinghub.elsevier.com/retrieve/pii/S01650327140010
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http://dx.doi.org/10.1016/j.jad.2014.03.006DOI Listing
June 2014

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus.

Mol Cytogenet 2013 6;6:31. Epub 2013 Aug 6.

Department of Plastic, Reconstructive & Aesthetic Surgery, Singapore General Hospital, Outram Road, Singapore 169608, Singapore.

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http://dx.doi.org/10.1186/1755-8166-6-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751720PMC
May 2014

Influence of mu-opioid receptor variant on morphine use and self-rated pain following abdominal hysterectomy.

J Pain 2013 Oct 30;14(10):1045-52. Epub 2013 May 30.

Department of Women's Anaesthesia, KK Women's and Children's Hospital, Singapore; KK Research Centre, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1016/j.jpain.2013.03.008DOI Listing
October 2013

De novo trisomy 12p in twin girls with different levels of mosaicism.

Am J Med Genet A 2013 Jul 17;161A(7):1702-5. Epub 2013 May 17.

KK Research Centre, KK Women's & Children's Hospital, Singapore, Singapore.

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http://dx.doi.org/10.1002/ajmg.a.35943DOI Listing
July 2013

De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability.

Gene 2013 Mar 11;517(1):82-8. Epub 2013 Jan 11.

KK Research Centre, KK Women's & Children's Hospital, Singapore.

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http://dx.doi.org/10.1016/j.gene.2012.12.082DOI Listing
March 2013

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Gene 2012 May 9;499(1):182-5. Epub 2012 Mar 9.

Genetics Service, KK Women's and Children's Hospital, Republic of Singapore.

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http://dx.doi.org/10.1016/j.gene.2012.02.043DOI Listing
May 2012

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

Twin Res Hum Genet 2011 Aug;14(4):333-9

Genetics Service, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1375/twin.14.4.333DOI Listing
August 2011

Alcohol and aldehyde dehydrogenase polymorphisms in Chinese and Indian populations.

Subst Use Misuse 2010 ;45(1-2):1-14

KK Research Centre, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.3109/10826080802490584DOI Listing
March 2010

Ethnic differences in pain perception and patient-controlled analgesia usage for postoperative pain.

J Pain 2008 Sep 12;9(9):849-55. Epub 2008 Jun 12.

KK Research Centre, KK Women's and Children's Hospital, and the Department of Psychological Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

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http://dx.doi.org/10.1016/j.jpain.2008.04.004DOI Listing
September 2008

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Int J Mol Med 2008 Jun;21(6):747-51

KK Research Centre, KK Women's and Children's Hospital, Singapore 229899, Singapore.

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June 2008

Identification of IRF6 gene variants in three families with Van der Woude syndrome.

Int J Mol Med 2008 Jun;21(6):747-51

KK Research Centre, KK Women's and Children's Hospital, Singapore 229899, Singapore.

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June 2008

Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophrenia.

Prog Neuropsychopharmacol Biol Psychiatry 2007 Aug 6;31(6):1297-302. Epub 2007 Jun 6.

Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

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http://dx.doi.org/10.1016/j.pnpbp.2007.05.013DOI Listing
August 2007

Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genome.

Gene 2006 Jul 3;376(2):268-80. Epub 2006 May 3.

KK Research Centre, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore.

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http://dx.doi.org/10.1016/j.gene.2006.04.009DOI Listing
July 2006

Congenital long QT syndromes: clinical features, molecular genetics and genetic testing.

Expert Rev Mol Diagn 2006 May;6(3):365-74

National Heart Centre, Department of Cardiology, National Heart Centre, Mistri Wing 17 Third Hospital Avenue, Singapore 168752, Republic of Singapore.

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http://dx.doi.org/10.1586/14737159.6.3.365DOI Listing
May 2006

Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies.

Hum Mutat 2006 Mar;27(3):232-5

Defense Medical and Environmental Research Institute, DSO National Laboratories, Republic of Singapore.

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http://dx.doi.org/10.1002/humu.20291DOI Listing
March 2006

Gender-specific association of insertion/deletion polymorphisms in the nogo gene and chronic schizophrenia.

Brain Res Mol Brain Res 2005 Oct;139(2):212-6

Defence Medical and Environmental Research Institute, DSO National Laboratories, 27 Medical Drive, Kent Ridge, 117510, Singapore.

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http://dx.doi.org/10.1016/j.molbrainres.2005.05.010DOI Listing
October 2005

Molecular diagnosis of neurogenetic disorders involving trinucleotide repeat expansions.

Expert Rev Mol Diagn 2005 Jan;5(1):101-9

DSO National Laboratories, Population Genetics Programme, Defence Medical and Environmental Research Institute, 27 Medical Drive, 117510 Singapore.

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http://dx.doi.org/10.1586/14737159.5.1.101DOI Listing
January 2005

Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disorders.

Psychiatr Genet 2004 Dec;14(4):227-31

Defence Medical Research Institute, Defence Science and Technology Agency, Republic of Singapore.

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http://dx.doi.org/10.1097/00041444-200412000-00012DOI Listing
December 2004

Identification of human Clock gene variants by denaturing high-performance liquid chromatography.

J Hum Genet 2004 13;49(4):209-214. Epub 2004 Mar 13.

Population Genetics Programme, Defence Medical and Environmental Research Institute, DSO National Laboratories, 27 Medical Drive, Kent Ridge, Singapore, Singapore, 117510.

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http://dx.doi.org/10.1007/s10038-004-0130-yDOI Listing
June 2004

Tumor necrosis factor-alpha gene promoter polymorphisms in chronic schizophrenia.

Biol Psychiatry 2003 Dec;54(11):1205-11

Defense Medical Research Institute, Defense Science and Technology Agency, Republic of, Singapore, Singapore.

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http://dx.doi.org/10.1016/s0006-3223(03)00345-7DOI Listing
December 2003

Case-control and linkage disequilibrium studies of the tryptophan hydroxylase gene polymorphisms and major depressive disorder.

Psychiatr Genet 2003 Sep;13(3):151-4

Defence Medical Research Institute, Defence Science and Technology Agency, Clinical Research Centre #04-07, 10 Medical Drive, Singapore 117597, Republic of Singapore.

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http://dx.doi.org/10.1097/00041444-200309000-00003DOI Listing
September 2003

Smoking and tardive dyskinesia: lack of involvement of the CYP1A2 gene.

J Psychiatry Neurosci 2003 May;28(3):185-9

Woodbridge Hospital and Institute of Mental Health, Singapore.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC161742PMC
May 2003

Mu opioid receptor gene polymorphisms and heroin dependence in Asian populations.

Neuroreport 2003 Mar;14(4):569-72

Defence Medical Research Institute, Defence Science and Technology Agency, 04-07 Clinical Research Centre, 10 Medical Drive, Singapore 117597.

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http://dx.doi.org/10.1097/00001756-200303240-00008DOI Listing
March 2003

Polymorphisms of dopamine receptors and tardive dyskinesia among Chinese patients with schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2003 Jan;116B(1):51-4

Woodbridge Hospital/Institute of Mental Health, Singapore.

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http://dx.doi.org/10.1002/ajmg.b.10004DOI Listing
January 2003

Heterozygosities and allelic frequencies of a set of microsatellite markers used for genome-wide scans in a Chinese population.

J Hum Genet 2002 ;47(11):623-31

Defence Medical Research Institute, Defence Science and Technology Agency Clinical Research Centre, 10 Medical Drive, Singapore 117597, Republic of Singapore.

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http://dx.doi.org/10.1007/s100380200096DOI Listing
January 2003