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Author Details
Full Name
Chureerat Phokaew
Affiliation
Chulalongkorn University
ORCID
Career Start Year
2006
Papers
23
H Index
8
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
36198807
Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact.
Eur J Hum Genet
2023
37957263
Comparative genomics and genome-wide SNPs of endangered Eld's deer provide breeder selection for inbreeding avoidance.
Sci Rep
2023
35013560
Host genetic factors of COVID-19 susceptibility and disease severity in a Thai population.
J Hum Genet
2022
36617651
Metagenomic analysis of viral genes integrated in whole genome sequencing data of Thai patients with Brugada syndrome.
Genomics Inform
2022
36104364
A LILRB1 variant with a decreased ability to phosphorylate SHP-1 leads to autoimmune diseases.
Sci Rep
2022
36327219
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet
2022
33486840
Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta.
Oral Dis
2022
34227100
Severe neonatal haemolytic anaemia caused by compound heterozygous KLF1 mutations: report of four families and literature review.
Br J Haematol
2021
33822359
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Clin Genet
2021
33671041
Prenatal Sonographic Features of CHARGE Syndrome.
Diagnostics (Basel)
2021
34496037
The Thai reference exome (T-REx) variant database.
Clin Genet
2021
34037307
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
Am J Med Genet A
2021
34231238
Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy.
Anim Genet
2021
32534992
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.
Eur J Med Genet
2020
33191771
A Pathogenic Variant in <i>ALPK3</i> Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.
Circ Genom Precis Med
2020
32249079
A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.
Brain Dev
2020
30771478
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.
Gene
2019
32071780
A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in <i>LHX4</i> and <i>COL1A2</i>.
J Adv Res
2019
31740666
A regulatory variant of CHRM3 is associated with cannabis-induced hallucinations in European Americans.
Transl Psychiatry
2019
21423624
Hypomethylation of intragenic LINE-1 represses transcription in cancer cells through AGO2.
PLoS One
2011
18715815
Detection of LINE-1s hypomethylation in oral rinses of oral squamous cell carcinoma patients.
Oral Oncol
2009
18776216
LINE-1 methylation patterns of different loci in normal and cancerous cells.
Nucleic Acids Res
2008
16524460
Cyclin A1 promoter hypermethylation in human papillomavirus-associated cervical cancer.
BMC Cancer
2006
1 - 23 of 23
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