Wendy H. Raskind

Pacific Northwest Diabetes Research Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

61h-index13.2kcitations230works6.12yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(46), Genomics and Rare Diseases(32), Reading and Literacy Development(28), Genetic Neurodegenerative Diseases(24), Cognitive and developmental aspects of mathematical skills(15)

Publications192 total

Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
PLoS ONE·2025· 2 citedOpen Access
Joint exome and metabolome analysis in individuals with dyslexia: Evidence for associated dysregulations of olfactory perception and autoimmune functions
2024Open Access
Assessing Long‐Term Neurologic Outcomes in <scp><i>SAMD9L</i></scp>‐Related Ataxia‐Pancytopenia Syndrome
Movement Disorders Clinical Practice·2024Open Access
<i>TREM2</i> variants that cause early dementia and increase Alzheimer’s disease risk affect gene splicing
Brain·2024· 11 citedOpen Access
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Rare·2024· 2 citedOpen Access
Effect of disease‐associated variants in TREM2 on splicing and gene dosage
Alzheimer s & Dementia·2023Open Access
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Neurology Genetics·2023· 6 citedOpen Access
NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
Journal of the Neurological Sciences·2023· 2 citedOpen Access
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
2023· 2 citedOpen Access
Dominant‐negative variant in <i>SLC1A4</i> causes an autosomal dominant epilepsy syndrome
Annals of Clinical and Translational Neurology·2023· 3 citedOpen Access
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation
Acta Neuropathologica·2023· 59 citedOpen Access
A data-fusion approach to identifying developmental dyslexia from multi-omics datasets
2023Open Access
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
2023Open Access
Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition
Science Signaling·2022· 18 citedOpen Access
Defects in lysosomal function and lipid metabolism in human microglia harboring a <i>TREM2</i> loss of function mutation
2022· 3 citedOpen Access
Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations
Parkinsonism & Related Disorders·2022· 4 citedOpen Access
Functional characterization of hiPSCs‐derived glial cells and neurons from patients harboring a TREM2 loss of function mutation
Alzheimer s & Dementia·2021Open Access
Protein Kinase Cγ Mutations Drive Spinocerebellar Ataxia Type 14 by Impairing Autoinhibition
2021Open Access
Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain
Journal of Leukocyte Biology·2021· 28 citedOpen Access
Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression
Archives of Clinical Neuropsychology·2021· 1 citedOpen Access
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Frequent Co-authors

Thomas D. Bird(11), Virginia W. Berninger(10), Mark Matsushita(10), Ellen M. Wijsman(8), Zoran Brkanac(8), Robert D. Abbott(6), John Wolff(6), Thomas D. Bird(5), Michael O. Dorschner(4), Fuki M. Hisama(4), Jack W. Singer(4), Hillary Lipe(4), Emily Bonkowski(4), Brian J. Reid(3), Laura M. Amendola(3), Arno G. Motulsky(3), Deborah A. Nickerson(3), Kathleen Nielsen(3), Evan E. Eichler(3), Philip J. Fialkow(3)