Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum
Summa, Sarinya, Ittiwut, Chupong, Kulsirichawaroj, Pimchanok, Paprad, Tanitnun, Likasitwattanakul, Surachai, Sanmaneechai, Oranee, Boonsimma, Ponghatai, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Scientific reports (25.01.2023)
Published in Scientific reports (25.01.2023)
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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
Ittiwut, Chupong, Poonmaksatit, Sathida, Boonsimma, Ponghatai, Desudchit, Tayard, Suphapeetiporn, Kanya, Ittiwut, Rungnapa, Shotelersuk, Vorasuk
Published in Brain & development (Tokyo. 1979) (01.03.2021)
Published in Brain & development (Tokyo. 1979) (01.03.2021)
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Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variants
Chokvithaya, Suphalak, Caengprasath, Natarin, Buasong, Aayalida, Jantasuwan, Supavadee, Santawong, Kanokwan, Leela-adisorn, Netchanok, Tongkobpetch, Siraprapa, Ittiwut, Chupong, Saengow, Vitchayaporn Emarach, Kamolvisit, Wuttichart, Boonsimma, Ponghatai, Bongsebandhu-phubhakdi, Saknan, Shotelersuk, Vorasuk
Published in Scientific reports (27.02.2023)
Published in Scientific reports (27.02.2023)
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A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent
Boonsimma, Ponghatai, Suwannachote, Sirorat, Phokaew, Chureerat, Ittiwut, Chupong, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Brain & development (Tokyo. 1979) (01.08.2020)
Published in Brain & development (Tokyo. 1979) (01.08.2020)
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Exome sequencing as first-tier genetic testing in infantile-onset pharmacoresistant epilepsy: diagnostic yield and treatment impact
Boonsimma, Ponghatai, Ittiwut, Chupong, Kamolvisit, Wuttichart, Ittiwut, Rungnapa, Chetruengchai, Wanna, Phokaew, Chureerat, Srichonthong, Chalurmpon, Poonmaksatit, Sathida, Desudchit, Tayard, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in European journal of human genetics : EJHG (01.02.2023)
Published in European journal of human genetics : EJHG (01.02.2023)
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Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10
Manaspon, Chawan, Boonsimma, Ponghatai, Phokaew, Chureerat, Theerapanon, Thanakorn, Sriwattanapong, Kanokwan, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations
Pattrakornkul, Nalinee, Ittiwut, Chupong, Boonsimma, Ponghatai, Boonyapisit, Kanokwan, Khongkhatithum, Chaiyos, Sanmaneechai, Oranee, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
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Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand
Kamolvisit, Wuttichart, Phowthongkum, Prasit, Boonsimma, Ponghatai, Kuptanon, Chulaluck, Rojnueangnit, Kitiwan, Wattanasirichaigoon, Duangrurdee, Chanvanichtrakool, Mongkol, Phuaksaman, Chutima, Wiromrat, Pattara, Srichomthong, Chalurmpon, Ittiwut, Chupong, Phokaew, Chureerat, Ittiwut, Rungnapa, Assawapitaksakul, Adjima, Chetruengchai, Wanna, Buasong, Aayalida, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Clinical genetics (01.07.2021)
Published in Clinical genetics (01.07.2021)
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Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases
Boonsimma, Ponghatai, Michael Gasser, Marius, Netbaramee, Wiracha, Wechapinan, Thanin, Srichomthong, Chalurmpon, Ittiwut, Chupong, Wagner, Matias, Krenn, Martin, Zimprich, Fritz, Abicht, Angela, Biskup, Saskia, Roser, Timo, Borggraefe, Ingo, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Gene (30.07.2020)
Published in Gene (30.07.2020)
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Can knowledgeable experts assess costs and outcomes as if they were ignorant? An experiment within precision medicine evaluation
Dulsamphan, Thamonwan, Juntama, Parntip, Suwanpanich, Chotika, Isaranuwatchai, Wanrudee, Silzle, Madison, Poonmaksatit, Sathida, Boonsimma, Ponghatai, Shotelersuk, Vorasuk, Visudtibhan, Anannit, Lusawat, Apasri, Kamolvisit, Wuttichart, Kapol, Nattiya, Lochid-amnuay, Surasit, Sribundit, Namfon, Samprasit, Nathapol, Morton, Alec, Teerawattananon, Yot
Published in International journal of technology assessment in health care (17.11.2023)
Published in International journal of technology assessment in health care (17.11.2023)
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Journal Article
ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response
Gasser, Marius, Boonsimma, Ponghatai, Netbaramee, Wiracha, Wechapinan, Thanin, Srichomthomg, Chalurmpon, Ittiwut, Chupong, Krenn, Martin, Zimprich, Fritz, Milenkovic, Ivan, Abicht, Angela, Biskup, Saskia, Roser, Timo, Shotelersuk, Vorasuk, Tacke, Moritz, Kuersten, Marianne, Wagner, Matias, Borggraefe, Ingo, Suphapeetiporn, Kanya, von Stülpnagel, Celina
Published in Journal of clinical neuroscience (01.02.2020)
Published in Journal of clinical neuroscience (01.02.2020)
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Journal Article
Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10
Manaspon, Chawan, Boonsimma, Ponghatai, Phokaew, Chureerat, Theerapanon, Thanakorn, Sriwattanapong, Kanokwan, Porntaveetus, Thantrira, Shotelersuk, Vorasuk
Published in American journal of medical genetics. Part A (01.10.2021)
Published in American journal of medical genetics. Part A (01.10.2021)
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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability
Ittiwut, Chupong, Poonmaksatit, Sathida, Boonsimma, Ponghatai, Desudchit, Tayard, Suphapeetiporn, Kanya, Ittiwut, Rungnapa, Shotelersuk, Vorasuk
Published in Brain & development (01.03.2021)
Published in Brain & development (01.03.2021)
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A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent
Boonsimma, Ponghatai, Suwannachote, Sirorat, Phokaew, Chureerat, Ittiwut, Chupong, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Published in Brain & development (01.08.2020)
Published in Brain & development (01.08.2020)
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