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Author Details

Chureerat Phokaew
Chulalongkorn University
2006
23
8
PMIDPaper TitleJournal TitlePublished Year
36198807Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.Eur J Hum Genet2023
37957263Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.Sci Rep2023
35013560Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population.J Hum Genet2022
36617651Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome.Genomics Inform2022
36104364A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.Sci Rep2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
33486840Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.Oral Dis2022
34227100Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.Br J Haematol2021
33822359Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.Clin Genet2021
33671041Prenatal Sonographic Features of CHARGE Syndrome.Diagnostics (Basel)2021
34496037The Thai reference exome (T-REx) variant database.Clin Genet2021
34037307Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.Am J Med Genet A2021
34231238Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.Anim Genet2021
32534992Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.Eur J Med Genet2020
33191771A Pathogenic Variant in <i>ALPK3</i> Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.Circ Genom Precis Med2020
32249079A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.Brain Dev2020
30771478Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.Gene2019
32071780A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in <i>LHX4</i> and <i>COL1A2</i>.J Adv Res2019
31740666A regulatory variant of CHRM3 is associated with cannabis-induced hallucinations in European Americans.Transl Psychiatry2019
21423624Hypomethylation of intragenic LINE-1 represses transcription in cancer cells through AGO2.PLoS One2011
18715815Detection of LINE-1s hypomethylation in oral rinses of oral squamous cell carcinoma patients.Oral Oncol2009
18776216LINE-1 methylation patterns of different loci in normal and cancerous cells.Nucleic Acids Res2008
16524460Cyclin A1 promoter hypermethylation in human papillomavirus-associated cervical cancer.BMC Cancer2006
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Collaborators

King Chulalongkorn Memorial Hospital, Chulalongkorn University
Co-authored papers 17
Chulalongkorn University
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Chulalongkorn University
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Icahn School of Medicine at Mount Sinai.
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Instituto de Investigacion Sanitaria de Santiago
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David Geffen School of Medicine, University of California-Los Angeles
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Icahn School of Medicine at Mount Sinai
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