About
4
Publications
1,268
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
73
Citations
Introduction
Researcher in Neurogenetics and Neurodevelopmental disorder 🧠🧫🔬🧪💊
Current institution
Additional affiliations
February 2019 - July 2022
Position
- Research Assistant
Description
- I'm working as a researcher at National Taiwan University Hospital. My research area includes iPSC, CRISPR/Cas-9 mutated IMR-32 cell lines and model organism zebrafish to study Rett syndrome.
August 2018 - September 2018
Position
- Intern
Description
- I have worked with Prof. Majlinda Lako as an intern who known for her work on stem cell research. My work is to culture cells and stem cells. I learned to isolate RNA and exosomes from the cells.
November 2016 - February 2017
Arzoo Hospital
Position
- Technician
Description
- Blood and Urine testing, handling documentation and discussing the possible disease with supervisors.
Education
September 2017 - September 2018
August 2013 - September 2016
Institute for Genetic Engineering
Field of study
- Genetics
Publications
Publications (4)
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder, also known as Unverricht–Lundborg disease (ULD). EPM1 patients suffer from photo-sensitive seizures, stimulus-sensitive myoclonus, nocturnal myoclonic seizures, ataxia and dysarthria. In addition, cerebral ataxia and impaired GABAergic inhibition are typically present....
Progressive myoclonic epilepsy type 1 (EPM1) is an autosomal recessive disorder caused by mutations in thecystatin B gene (CSTB). Affected individual’s manifest stimulus-sensitive and action myoclonus and tonic-clonicepileptic seizures. In this study, we have generated iPSCs from an EPM1 patient’s skin fibroblasts with Sendaivirus mediated transgen...
Otospondylomegaepiphyseal dysplasia (OSMED) is an inherited autosomal dominant and recessive skeletal dysplasia caused by both heterozygous and homozygous pathogenic variants in COL11A2 encoding the α2(XI) collagen chains, a part of type XI collagen. Here, we describe a 2-year-old girl presenting from birth with a phenotype suggestive of OSMED. On...
Individuals with mutations in forkhead box G1 (FOXG1) belong to a distinct clinical entity, termed “FOXG1-related encephalopathy”. There are two clinical phenotypes/syndromes identified in FOXG1-related encephalopathy, duplications and deletions/intragenic mutations. In children with deletions or intragenic mutations of FOXG1, the recognized clinic...
