日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Singleton rapid long-read genome sequencing as first tier genetic test for critically Ill children with suspected genetic diseases

单例快速长读长基因组测序作为疑似遗传疾病危重儿童的一线基因检测

Kamolvisit, Wuttichart; Cheawsamoot, Chanatjit; Chetruengchai, Wanna; Kor-Anantakul, Phawin; Thangpong, Rungroj; Srichomthong, Chalurmpon; Assawapitaksakul, Adjima; Syananondh, Kusuma; Kontun, Sineenat; Buasong, Aayalida; Od-Ek, Phichittra; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygous ABCG5 variant, enabling effective treatment of pediatric hypercholesterolemia after 13 years of therapeutic resistance: A case report

基因组测序鉴定出2p染色体单亲二体性及ABCG5基因纯合变异,使得在治疗13年后,儿童高胆固醇血症的治疗得以有效开展:病例报告

Kassaie, Hannah; Cheawsamoot, Chanatjit; Kanchanasutthiyakorn, Sunisa; Santawong, Kanokwan; Chomtho, Sirinuch; Thangpong, Rungroj; Shotelersuk, Vorasuk

Generation of human induced pluripotent stem cell lines from patients with PHACE syndrome

从PHACE综合征患者中生成人类诱导多能干细胞系

Ramchandani, Rohin; Cheawsamoot, Chanatjit; Torres, Giovanni A; Arthur Ataam, Jennifer; Siegel, Dawn; Karakikes, Ioannis

Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM)

利用四名携带与成人发病型肥厚型心肌病 (HCM) 相关的致病性 ALPK3 变异的患者,生成人类诱导多能干细胞系

Cheawsamoot, Chanatjit; Ramchandani, Rohin; Ameen, Mohamed; Arthur Ataam, Jennifer; Khongphatthanayothin, Apichai; Shotelersuk, Vorasuk; Karakikes, Ioannis