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 · 30 citations · Full text

First-tier Genetic Testing, Exome Sequencing, Genetics +9

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

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 · 17 citations

Atp1a3-related Epilepsy, Neurology, Treatment Response +1

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

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

Mendelian Disorder, Genetic Disorder, Genetics +8

Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations

Nalinee Pattrakornkul, Chupong Ittiwut, Ponghatai Boonsimma et al. · Neuromuscular Disorders · 2020 · 11 citations

Developmental Anomaly, Thai Population, Mendelian Disorder +3