Publications by authors named "Ee Shien Tan"

25Publications

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

Am J Med Genet A 2020 Oct 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

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

Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease.

Asian Pac J Allergy Immunol 2020 Feb 16. Epub 2020 Feb 16.

Allergy Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.12932/AP-060919-0638DOI Listing
February 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 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

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

Williams-Beuren syndrome in diverse populations.

Am J Med Genet A 2018 05;176(5):1128-1136

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.38672
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http://dx.doi.org/10.1002/ajmg.a.38672DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007881PMC
May 2018

Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report.

BMC Med Genomics 2018 04 3;11(1):37. Epub 2018 Apr 3.

Department of Endocrinology, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore.

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http://dx.doi.org/10.1186/s12920-018-0356-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883299PMC
April 2018

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

KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.

Am J Med Genet A 2016 10 6;170(10):2632-7. Epub 2016 May 6.

Genetic Institute, Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.37740DOI Listing
October 2016

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

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

Haemoglobin E-beta Thalassaemia in Singapore.

Ann Acad Med Singap 2014 Jun;43(6):331-3

Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

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June 2014

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

Use of deferiprone for iron chelation in patients with transfusion-dependent thalassaemia.

J Paediatr Child Health 2011 Nov 9;47(11):812-7. Epub 2011 Sep 9.

Genetics Service, Department of Paediatric Medicine, KK Women's and Children's Hospital, Singapore.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02031.xDOI Listing
November 2011

Inborn errors of metabolism presenting as neonatal encephalopathy: practical tips for clinicians.

Authors:
Ee Shien Tan

Ann Acad Med Singap 2008 Dec;37(12 Suppl):94-3

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

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December 2008