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Laurie Robak

Baylor College of Medicine

24

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1335

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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.

2021 American Journal of Medical Genetics Part A
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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease

2020 Neurology Genetics
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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.

2020 American Journal of Human Genetics
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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome.

2020 Human Mutation
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De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

2019 bioRxiv
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Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

2019 npj Parkinson's disease
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Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

2019 Lancet Neurology
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Integrated Sequencing a Array Comparative Genomic Hybridization in Familial Parkinson’s Disease

2019 bioRxiv
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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

2019
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Integrated Whole Exome Sequencing and Chromosomal Microarray in Familial Parkinson’s Disease (N3.001)

2018 Neurology
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