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Renee D. George

University of California, San Diego

11

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81

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Developmental and temporal characteristics of clonal sperm mosaicism.

2021 Cell
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Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

2020 BMC Medical Genomics
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Temporal stability of human sperm mosaic mutations results in life-long threat of transmission to offspring

2020 bioRxiv
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Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

2020 Proceedings of the National Academy of Sciences of the United States of America
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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians

2020 Orphanet Journal of Rare Diseases
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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

2020
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DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

2020 bioRxiv
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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

2018 American Journal of Human Genetics
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Quantitative evolutionary proteomics of seminal fluid from primates with different mating systems

2018 BMC Genomics
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Prenatal Testing Combined with Familial Genetic Diagnosis Reduces Disease Recurrence

2018 Social Science Research Network
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