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Hyunglok Chung

Baylor College of Medicine
Boston Children's Hospital

18

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183

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Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases

2021 bioRxiv
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ABCD1 and X-linked adrenoleukodystrophy: A disease with a markedly variable phenotype showing conserved neurobiology in animal models.

2021 Journal of Neuroscience Research
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies including Myoclonic Atonic Epilepsy

2021 medRxiv
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Phosphatidylserine synthase plays an essential role in glia and affects development, as well as the maintenance of neuronal function.

2021 iScience
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De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

2021 Brain
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De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

2020 American Journal of Human Genetics
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An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

2019 bioRxiv
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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

2019 American Journal of Human Genetics
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Author response: An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

2019 eLife
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Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

2019 Developmental Cell
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