List of works - Vorasuk Shotelersuk

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

scientific article published on 30 May 2015

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

scientific article published on 30 July 2019

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling

scientific article published on 20 August 2006

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

scientific article published on 01 April 2000

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

scientific article published on 20 June 2012

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel

scientific article

A novel PITX2 mutation in non-syndromic oro-dental anomalies.

scientific article published on 9 November 2017

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

scientific article published on 21 September 2017

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia

scientific article published on 14 May 2019

A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1

scientific article published on 13 May 2005

A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

scientific article

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

scientific article published on 16 March 2019

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

scientific article published on 20 October 2014

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

scientific article published on 11 September 2015

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.

scientific article

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

scientific article

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells

scientific article published on 18 July 2018

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

scientific article published on 10 August 2015

Association of CD247 with systemic lupus erythematosus in Asian populations

article

Bilateral pheochromocytoma during the postpartum period.

scientific article published on 2 April 2009

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population.

scientific article

Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

scientific article

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

scientific article published on 29 May 2012

Cole-Carpenter syndrome in a patient from Thailand

scientific article published on 31 July 2018

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

scientific article

Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy.

scientific article published on 5 January 2010

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation.

scientific article published in June 2013

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

scientific article published on 01 May 2005

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation

scientific article published on 29 July 2019

Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation.

scientific article published on 8 November 2017

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

scientific article published on September 1999

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation

scientific article published on 26 July 2019

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

scientific article

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

scientific article

Expanding phenotypic spectrum of familial comedones

scientific article published on 6 May 2014

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.

scientific article

Expanding the phenotypic spectrum of Caffey disease

scientific article published on 01 March 2007

Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitis.

scientific article

FOXE1 mutations in Thai patients with oral clefts.

scientific article published in October 2013

Female-restricted syndromic intellectual disability in a patient from Thailand

scientific article published on 03 March 2019

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

scientific article published on 24 September 2020

Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.

scientific article published on 5 December 2012

Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

scientific article published on 14 April 2010

Gene-based meta-analysis of genome-wide association study data identifies independent single-nucleotide polymorphisms in ANXA6 as being associated with systemic lupus erythematosus in Asian populations.

scientific article

Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus

scientific article published on 29 June 2019

Genetic basis of sudden death after COVID-19 vaccination in Thailand

scientific article published in 2022

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

scientific article published on 01 April 1998

Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations

scientific article published on 10 April 2015

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

scientific article published on 18 March 2019

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease

scientific article published on 13 May 2014

HLA-B* 1502 screening: time to clinical practice.

scientific article published in May 2010

HLAreporter: a tool for HLA typing from next generation sequencing data

scientific article published on 16 March 2015

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

scientific article published on 01 October 1998

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

scientific article published on July 2007

Human asparagine synthetase associates with the mitotic spindle

scientific article published on 14 December 2018

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

scientific article published on 7 March 2008

In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides

scientific article

Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

scientific article

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

scientific article published on 06 July 2016

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population

scientific article published on 26 July 2006

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

scientific article published on 16 September 2017

Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.

scientific article published on 22 August 2014

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

scientific article published in August 2017

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

scientific article published on 9 May 2017

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

article

NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.

scientific article published on 24 September 2015

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

scientific article published on 01 February 2006

Noonan syndrome in diverse populations.

scientific article

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

scientific article published in February 1998

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.

scientific article

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

scientific article published on 17 July 2012

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

scientific article published on 31 October 2016

Novel Variants and Phenotypes in <i>NEUROG3</i>-Associated Syndrome

scientific article published in 2022

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

scientific article published on 13 June 2018

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

scientific article published on 10 September 2018

Novel mutations in Thai patients with glanzmann thrombasthenia.

scientific article

Novel mutations in a Thai patient with methylmalonic acidemia.

scientific article published in August 2003

Novel mutations in the FUCA1 gene that cause fucosidosis.

scientific article published on 16 September 2016

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

scientific article

Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

scientific article published on 16 November 2016

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

scientific article published on 01 July 2004

PDGFRa mutations in humans with isolated cleft palate.

scientific article

PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

scientific article published on 16 October 2006

Pallister-Hall syndrome with hypoparathyroidism

scientific article published on 01 May 2004

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene

scientific article published on 27 July 2011

Pharmacogenetic screening of carbamazepine-induced severe cutaneous allergic reactions.

scientific article published on 28 July 2011

Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia.

scientific article published in May 2015

Precision medicine in Thailand

scientific article published on 19 March 2019

Prenatal diagnosis of Pompe disease by electron microscopy

scientific article published on 14 May 2004

Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.

scientific article published on 24 February 2009

Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization

scientific article published on 16 September 2006

Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2

scientific article published on 20 July 2012

Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.

scientific article

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.

scientific article published on 30 October 2015

Risk factors associated with the occurrence of frontoethmoidal encephalomeningocele

scientific article published on 14 September 2007

SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.

scientific article

Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation

scientific article published on 21 November 2017

Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

scientific article

Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population

scientific article

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.

scientific article

Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.

scientific article

TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population.

scientific article

Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 --> 9pter and deletion of 9q34.3.

scientific article published on 01 September 2006

The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report.

scientific article published on 16 July 2018

The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency

scientific article published on 14 September 2018

Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians.

scientific article published on 2 September 2013

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome

scientific article published on 01 November 2009

Two common and three novel PDS mutations in Thai patients with Pendred syndrome

scientific article published on 01 December 2007

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

scientific article

Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hünermann-Happle syndrome

scientific article published on 01 July 2005

Two novel mutations including a large deletion of the SLC4A11 gene causing autosomal recessive hereditary endothelial dystrophy

scientific article published on 19 August 2014

Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene

scientific article published on 18 March 2011

Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.

scientific article published on 26 May 2016

Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities

scientific article published on 14 February 2019

Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy

scientific article

Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita

scientific article published on 11 March 2016

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

scientific article published on 10 May 2018

Williams–Beuren syndrome in diverse populations

scientific article published in May 2018

Wiskott-Aldrich syndrome iPS cells produce megakaryocytes with defects in cytoskeletal rearrangement and proplatelet formation.

scientific article

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

scientific article published on 26 June 2014

p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease.

scientific article

rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis

scientific article published on 17 May 2018

List of works by Vorasuk Shotelersuk

A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome

A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome

A girl with a novel splice site mutation in VDR supports the role of a ligand-independent VDR function on hair cycling

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel

A novel PITX2 mutation in non-syndromic oro-dental anomalies.

A novel de novo COL1A1 mutation in a Thai boy with osteogenesis imperfecta born to consanguineous parents

A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia

A novel germline mutation, 1793delG, of the MEN1 gene underlying multiple endocrine neoplasia type 1

A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.

A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly.

Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.

Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.

Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells

An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand

Association of CD247 with systemic lupus erythematosus in Asian populations

Bilateral pheochromocytoma during the postpartum period.

Carbamazepine and phenytoin induced Stevens-Johnson syndrome is associated with HLA-B*1502 allele in Thai population.

Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Cole-Carpenter syndrome in a patient from Thailand

Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation.

Concurrent bilateral pheochromocytoma and thoracic paraganglioma during pregnancy.

Cornelia de Lange syndrome in diverse populations

DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation.

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome

Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation

Dental Properties, Ultrastructure, and Pulp Cells Associated With a Novel DSPP Mutation.

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.

Expanding phenotypic spectrum of familial comedones

Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.

Expanding the phenotypic spectrum of Caffey disease

Expression of mammaglobins A and B in nasal polyps is similar in patients with and without allergic rhinitis.

FOXE1 mutations in Thai patients with oral clefts.

Female-restricted syndromic intellectual disability in a patient from Thailand

Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1

Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.

Functional characterization of vasopressin receptor 2 mutations causing partial and complete congenital nephrogenic diabetes insipidus in Thai families.

Gene-based meta-analysis of genome-wide association study data identifies independent single-nucleotide polymorphisms in ANXA6 as being associated with systemic lupus erythematosus in Asian populations.

Generation of two human iPSC lines (MDCUi001-A and MDCUi001-B) from dermal fibroblasts of a Thai patient with X-linked osteogenesis imperfecta using integration-free Sendai virus

Genetic basis of sudden death after COVID-19 vaccination in Thailand

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations

Genotype-phenotype correlation and expansion of orodental anomalies in LTBP3-related disorders

Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease

HLA-B* 1502 screening: time to clinical practice.

HLAreporter: a tool for HLA typing from next generation sequencing data

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Human asparagine synthetase associates with the mitotic spindle

Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism.

In vitro correction of a novel splicing alteration in the BTK gene by using antisense morpholino oligonucleotides

Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation.

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

NUDT15 c.415C>T increases risk of 6-mercaptopurine induced myelosuppression during maintenance therapy in children with acute lymphoblastic leukemia.

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

Noonan syndrome in diverse populations.

Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis.

Novel CYP11B2 mutation causing aldosterone synthase (P450c11AS) deficiency.

Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

Novel Variants and Phenotypes in <i>NEUROG3</i>-Associated Syndrome

Novel compound heterozygous mutations in KREMEN1 confirm it as a disease gene for ectodermal dysplasia

Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia

Novel mutations in Thai patients with glanzmann thrombasthenia.

Novel mutations in a Thai patient with methylmalonic acidemia.