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Mark Matsushita

University of Washington

47

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Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain.

2021 Journal of Leukocyte Biology
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Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

2020 Frontiers in Immunology
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Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study.

2017
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Genetic candidate variants in two multigenerational families with childhood apraxia of speech

2016 PLOS ONE
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De novo microdeletion of BCL11A is associated with severe speech sound disorder.

2014 American Journal of Medical Genetics Part A
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A Novel Spinocerebellar Ataxia With Hematologic Cytopenias: Linkage Analysis And Exome Sequencing Identifies A Candidate Gene (P6.058)

2014 Neurology
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thrombocytopenia band Xp11-12: further evidence of genetic heterogeneity of X-linked Mapping of a syndrome of X-linked thrombocytopenia with thalassemia to

2013
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Two Novel Mutations in ABHD12: Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects

2013 Human Mutation
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Motor sequencing deficit as an endophenotype of speech sound disorder: a genome-wide linkage analysis in a multigenerational family.

2012 Psychiatric Genetics
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Two Novel Mutations in ABHD12 Expand the Mutation Spectrum in PHARC (P05.141)

2012 Neurology
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