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

Nature communications, 2016-07, Vol.7 (1), p.11920-11920, Article 11920

2016

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Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in Thailand

Clinical therapeutics, 2020-07, Vol.42 (7), p.1234-1245

2020

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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

Scientific reports, 2023-02, Vol.13 (1), p.3328-3328, Article 3328

2023

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A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

Scientific reports, 2022-09, Vol.12 (1), p.15420-15420, Article 15420

2022

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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

Stem cell research, 2019-08, Vol.39, p.101493-101493, Article 101493

2019

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A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2

Journal of advanced research, 2020-01, Vol.21, p.121-127

2020

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

Genetics and molecular biology, 2017-10, Vol.40 (4), p.763-767

2017

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A common and two novel GBA mutations in Thai patients with Gaucher disease

Journal of human genetics, 2013-09, Vol.58 (9), p.594-599

2013

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

Pediatrics international, 2013-10, Vol.55 (5), p.651-655

2013

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

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2124-2130

2012

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Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population

Epilepsia (Copenhagen), 2008-12, Vol.49 (12), p.2087-2091

2008

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Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2022-06, Vol.107 (7), p.1939-1947

2022

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PTPRF is disrupted in a patient with syndromic amastia

BMC medical genetics, 2011-03, Vol.12 (1), p.46-46, Article 46

2011

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Novel Variants and Phenotypes in NEUROG3-Associated Syndrome

The journal of clinical endocrinology and metabolism, 2023-01, Vol.108 (1), p.52-58

2023

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PDGFRa mutations in humans with isolated cleft palate

European journal of human genetics : EJHG, 2012-10, Vol.20 (10), p.1058-1062

2012

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Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

Movement disorders, 2024-01, Vol.39 (1), p.164-172

2024

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PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

Japanese journal of clinical oncology, 2006-12, Vol.36 (12), p.814-821

2006

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

Journal of medical genetics, 2014-12, Vol.51 (12), p.817-823

2014

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

Human genetics, 2013-12, Vol.132 (12), p.1383-1393

2013

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Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia

Journal of acquired immune deficiency syndromes (1999), 2015-05, Vol.69 (1), p.e36

2015

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FGFR1 and FGFR2 mutations in Pfeiffer syndrome

The Journal of craniofacial surgery, 2013-01, Vol.24 (1), p.150-152

2013

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Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

Asian biomedicine, 2017-01, Vol.9 (2), p.211-215

2017

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

Clinica chimica acta, 2013-02, Vol.416, p.92-95

2013

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Two novel CTNS mutations in cystinosis patients in Thailand

Gene, 2012-05, Vol.499 (2), p.323-325

2012

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In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides

Archivum Immunologiae et Therapiae Experimentalis, 2014-10, Vol.62 (5), p.431-436

2014

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

Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic–Pharmacogenetic Model of HIV-infected Patients in Thailand

Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants

A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases

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

A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2

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

A common and two novel GBA mutations in Thai patients with Gaucher disease

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

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

Carbamazepine and phenytoin induced Stevens‐Johnson syndrome is associated with HLA‐B1502 allele in Thai population

Long-read Amplicon Sequencing of the CYP21A2 in 48 Thai Patients With Steroid 21-Hydroxylase Deficiency

PTPRF is disrupted in a patient with syndromic amastia

Novel Variants and Phenotypes in NEUROG3-Associated Syndrome

PDGFRa mutations in humans with isolated cleft palate

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8

PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

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

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

Pharmacogenetic testing can identify patients taking atazanavir at risk for hyperbilirubinemia

FGFR1 and FGFR2 mutations in Pfeiffer syndrome

Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family

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

Two novel CTNS mutations in cystinosis patients in Thailand

In vitro Correction of a Novel Splicing Alteration in the BTK Gene by Using Antisense Morpholino Oligonucleotides

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