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Rungnapa Ittiwut

Chulalongkorn University

18

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Author response for "Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand"

2021
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Phenotypic Heterogeneity and Genotypic Spectrum of Inborn Errors of Immunity Identified through Whole Exome Sequencing in a Thai Patient Cohort.

2021 Pediatric Allergy and Immunology
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Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.

2021 Clinical Genetics
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Whole exome sequencing for diagnosis of hereditary thrombocytopenia.

2020 Medicine
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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

2020 Brain & Development
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Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy

2019 Eye
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Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita

2019 Journal of the Endocrine Society
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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

2018 PLOS Genetics
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rs11567842 SNP in SLC13A2 gene associates with hypocitraturia in Thai patients with nephrolithiasis

2018 Genes & Genomics
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Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development

2018 bioRxiv
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