Ponghatai Boonsimma

Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact

Ponghatai Boonsimma, Chupong Ittiwut, Wuttichart Kamolvisit et al. · European Journal of Human Genetics · 2022 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +16

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response

Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee et al. · Journal of Clinical Neuroscience · 2020 · 18 citations

Medicine, Neurology, Neuroscience +11

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

Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma et al. · Clinical Genetics · 2021 · 18 citations

Life Sciences, Genetics, Pediatrics +13

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases

Ponghatai Boonsimma, Marius Gasser, Wiracha Netbaramee et al. · Gene · 2020 · 14 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Suphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong et al. · Scientific Reports · 2023 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17