Poh San Lai

Poh San Lai

UNVERIFIED PROFILE

Are you Poh San Lai?   Register this Author

Register author
Poh San Lai

Poh San Lai

Publications by authors named "Poh San Lai"

Are you Poh San Lai?   Register this Author

55Publications

1074Reads

22Profile Views

The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.

BMC Res Notes 2019 Oct 28;12(1):704. Epub 2019 Oct 28.

Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13104-019-4730-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819651PMC
October 2019

Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing.

Eur J Hum Genet 2019 Sep 3;27(9):1389-1397. Epub 2019 May 3.

Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, National University Health System (NUHS), 1E Kent Ridge Road, 119228, Singapore.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41431-019-0412-7
Publisher Site
http://dx.doi.org/10.1038/s41431-019-0412-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777628PMC
September 2019

Association among dispositional mindfulness, self-compassion, and leukocyte telomere length in Chinese adults.

BMC Psychol 2019 Jul 22;7(1):47. Epub 2019 Jul 22.

China Center for Behavior Economics and Finance, South Western University of Finance and Economics, Chengdu, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40359-019-0323-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647116PMC
July 2019

Training in clinical genetics and genetic counseling in Asia.

Am J Med Genet C Semin Med Genet 2019 06 29;181(2):177-186. Epub 2019 Apr 29.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31703
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31703DOI Listing
June 2019

Development of clinical genetics in Asia.

Am J Med Genet C Semin Med Genet 2019 06 29;181(2):150-154. Epub 2019 Apr 29.

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

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31700
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.31700DOI Listing
June 2019

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia.

Am J Med Genet C Semin Med Genet 2019 06 3;181(2):155-165. Epub 2019 May 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31701DOI Listing
June 2019

Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.

Am J Med Genet C Semin Med Genet 2019 06 13;181(2):230-244. Epub 2019 May 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31704DOI Listing
June 2019

Successful aging, cognitive function, socioeconomic status, and leukocyte telomere length.

Psychoneuroendocrinology 2019 05 17;103:180-187. Epub 2019 Jan 17.

Department of Psychology, Concordia University, Montreal, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psyneuen.2019.01.015DOI Listing
May 2019

The role of the Oxytocin-Neurophysin I gene in contributing to human personality traits promoting sociality.

Int J Psychophysiol 2019 02 5;136:81-86. Epub 2018 Mar 5.

Department of Psychology, Concordia University, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijpsycho.2018.02.015DOI Listing
February 2019

Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2.

Brain Dev 2018 Sep 23;40(8):670-677. Epub 2018 Mar 23.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2018.03.001DOI Listing
September 2018

Malignant Hyperthermia and Ryanodine Receptor Type 1 Gene (RyR1) Mutation in a Family in Singapore.

Ann Acad Med Singapore 2017 Dec;46(12):455-460

Department of Anaesthesia, National University Health System, Singapore.

View Article

Download full-text PDF

Source
December 2017

SMA Diagnosis: Detection of SMN1 Deletion with Real-Time mCOP-PCR System Using Fresh Blood DNA.

Kobe J Med Sci 2017 Dec 18;63(3):E80-E83. Epub 2017 Dec 18.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826024PMC
December 2017

Spinal muscular atrophy carriers with two SMN1 copies.

Brain Dev 2017 Nov 1;39(10):851-860. Epub 2017 Jul 1.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03877604173017
Publisher Site
http://dx.doi.org/10.1016/j.braindev.2017.06.002DOI Listing
November 2017

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

PLoS One 2017 2;12(6):e0178776. Epub 2017 Jun 2.

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

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0178776PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5456385PMC
September 2017

ADP ribosyl-cyclases (CD38/CD157), social skills and friendship.

Psychoneuroendocrinology 2017 04 16;78:185-192. Epub 2017 Jan 16.

Dept. of Psychology, National University of Singapore, S117570, Singapore. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.psyneuen.2017.01.011DOI Listing
April 2017

Alternative splicing of a cryptic exon embedded in intron 6 of and .

Hum Genome Var 2016 1;3:16040. Epub 2016 Dec 1.

Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2016.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131094PMC
December 2016

Delay discounting, genetic sensitivity, and leukocyte telomere length.

Proc Natl Acad Sci U S A 2016 Mar 22;113(10):2780-5. Epub 2016 Feb 22.

Department of Psychology, National University of Singapore, Singapore 117570;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1514351113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4790989PMC
March 2016

Genetic variation in CD38 and breastfeeding experience interact to impact infants' attention to social eye cues.

Proc Natl Acad Sci U S A 2015 Sep 14;112(39):E5434-42. Epub 2015 Sep 14.

Early Social Development Group, Max Planck Institute for Human Cognitive and Brain Sciences, 04103 Leipzig, Germany; Department of Psychology, University of Virginia, Charlottesville, VA 22903

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1506352112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593116PMC
September 2015

Gold nanostructures for the multiplex detection of glucose-6-phosphate dehydrogenase gene mutations.

Anal Biochem 2014 Apr 1;451:56-62. Epub 2014 Feb 1.

Department of Chemical and Biomolecular Engineering, Faculty of Engineering, National University of Singapore, Singapore 119260, Singapore. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2014.01.014DOI Listing
April 2014

Spinal muscular atrophy: from gene discovery to clinical trials.

Ann Hum Genet 2013 Sep 23;77(5):435-63. Epub 2013 Jul 23.

Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, Kobe, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ahg.12031DOI Listing
September 2013

Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.

Pediatr Int 2012 Oct 10;54(5):602-12. Epub 2012 Jul 10.

Department of Community Medicine and Social Health Care, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-Cho, Chuo-Ku, Kobe 650-0017, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1442-200X.2012.03646.xDOI Listing
October 2012

The contributions of oxytocin and vasopressin pathway genes to human behavior.

Horm Behav 2012 Mar 29;61(3):359-79. Epub 2011 Dec 29.

Department of Psychology, National University of Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yhbeh.2011.12.014DOI Listing
March 2012

Detection of hemi/homozygotes through heteroduplex formation in high-resolution melting analysis.

Anal Biochem 2011 Mar 25;410(1):158-60. Epub 2010 Nov 25.

Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119074, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ab.2010.11.031DOI Listing
March 2011

Efficient mining of haplotype patterns for linkage disequilibrium mapping.

J Bioinform Comput Biol 2010 Dec;8 Suppl 1:127-46

School of Computing, National University of Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1142/s0219720010005142DOI Listing
December 2010

Two new variants of G6PD deficiencies in Singapore.

Nepal Med Coll J 2010 Sep;12(3):137-41

Department of Biophysics, Graduate School of Health Sciences, Kobe University, Kobe, Japan.

View Article

Download full-text PDF

Source
September 2010

Dimeric gold nanoparticle assembly for detection and discrimination of single nucleotide mutation in Duchenne muscular dystrophy.

Biosens Bioelectron 2010 May 1;25(9):2021-5. Epub 2010 Feb 1.

Department of Chemical and Biomolecular Engineering, Faculty of Engineering, National University of Singapore, Singapore 119260, Singapore.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S095656631000040
Publisher Site
http://dx.doi.org/10.1016/j.bios.2010.01.028DOI Listing
May 2010

Mapping human genetic diversity in Asia.

Science 2009 Dec;326(5959):1541-5

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.1177074DOI Listing
December 2009

A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation.

Horm Res 2009 1;71(5):298-304. Epub 2009 Apr 1.

Department of Paediatrics, National University Hospital of Singapore, 5 Lower Kent Ridge Road, Singapore 119074, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000208804DOI Listing
August 2009

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms.

Hum Genet 2009 May 17;125(4):413-20. Epub 2009 Feb 17.

Department of Clinical Research, SingHealth Research Facility, Block C, #03-3, Singapore General Hospital, 9 Hospital Drive, Singapore, 169612, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-009-0632-yDOI Listing
May 2009

High incidence of allelic loss at 16q12.2 region spanning RBL2/p130 gene in retinoblastoma.

Cancer Biol Ther 2009 Apr 22;8(8):714-7. Epub 2009 Apr 22.

Division of Human Genetics, Department of Paediatrics, National University of Singapore, Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4161/cbt.8.8.7921DOI Listing
April 2009

Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation.

Pediatr Neurol 2008 Dec;39(6):426-8

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2008.09.002DOI Listing
December 2008

Fugu rubripes and human survival motor neuron genes: structural and functional similarities in comparative genome studies.

Gene 2008 Nov 25;424(1-2):108-14. Epub 2008 Jul 25.

Neuromuscular Research Laboratory, National Neuroscience Institute, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2008.07.019DOI Listing
November 2008

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.

Neuromuscul Disord 2008 Feb 3;18(2):178-82. Epub 2007 Dec 3.

Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2007.09.011DOI Listing
February 2008

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1.

Hum Genet 2006 Oct 2;120(3):410-9. Epub 2006 Aug 2.

Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore, 308433, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-006-0230-1DOI Listing
October 2006

Diagnostic strategy for the detection of dystrophin gene mutations in asian patients and carriers using immortalized cell lines.

J Child Neurol 2006 Feb;21(2):150-5

Department of Paediatrics, National University of Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/08830738060210021101DOI Listing
February 2006

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.

View Article

Download full-text PDF

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

Ethnic variations of a retinoblastoma susceptibility gene (RB1) polymorphism in eight Asian populations.

J Genet 2003 Apr-Aug;82(1-2):33-7

Department of Paediatrics, National University of Singapore, Lower Kent Ridge Road, Singapore 119074.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/bf02715879DOI Listing
March 2004

IL-10 synergistically enhances GM-CSF-induced CCR1 expression in myelomonocytic cells.

Biochem Biophys Res Commun 2003 May;304(2):417-24

Department of Pharmacology, Faculty of Medicine, National University of Singapore, Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0006-291x(03)00612-0DOI Listing
May 2003

Comparative study on deletions of the dystrophin gene in three Asian populations.

J Hum Genet 2002 ;47(10):552-5

Division of Human Genetics, Department of Paediatrics, National University of Singapore, Singapore.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s100380200084DOI Listing
December 2002