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Marina Bakay

Children's Hospital of Philadelphia

28

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1210

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Inducible knockout of Clec16a in mice results in sensory neurodegeneration.

2021 Scientific Reports
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JAK/STAT inhibitor therapy partially rescues the lipodystrophic autoimmune phenotype in Clec16a KO mice.

2021 Scientific Reports
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Mitochondrial DNA haplogroups and susceptibility to neuroblastoma

2020 Journal of the National Cancer Institute
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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

2020 Nature Communications
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The Genetic Contribution to Type 1 Diabetes.

2019 Current Diabetes Reports
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The Autoimmune Disorder Susceptibility Gene CLEC16A Restrains NK Cell Function in YTS NK Cell Line and Clec16a Knockout Mice

2019 Frontiers in Immunology
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CLEC16A regulates splenocyte and NK cell function in part through MEK signaling

2018 PLOS ONE
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Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.

2018 Human Molecular Genetics
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Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism

2018 The Journal of Clinical Endocrinology and Metabolism
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Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene

2016 Nature Communications
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Citations (26)