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Patra Yeetong

Chulalongkorn University

21

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286

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Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

2020 European Journal of Human Genetics
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TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4

2019 Brain
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Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development

2018 PLOS Genetics
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Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

2018 Skeletal Radiology
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Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development

2018 bioRxiv
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Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene

2017 World Journal of Pediatrics
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Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant

2016 American Journal of Medical Genetics Part A
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First X-linked form of osteogenesis imperfecta, caused by mutations in MBTPS2, demonstrates a fundamental role for regulated intramembrane proteolysis in normal bone formation

2016 Bone Abstracts
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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

2016 Nature Communications
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Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.

2016 BMC Endocrine Disorders
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