ArticleCold Spring Harbor molecular case studies2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
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Article in Cold Spring Harbor molecular case studies, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
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26 citing papers in PubMed, 39 citations in OpenAlex.
- Clinical genome sequencing in neurodegenerative diseases-outcome in the first 500 patients.Human molecular genetics · 2026Article
- Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- CSF1R mutations in an Italian population of early-onset dementia: a case series.Journal of neurology · 2026Article
- IsmedRxiv : the preprint server for health sciences · 2026Article
- Integrative Genomic and Functional Analyses Reveal NINL as a Modulator of Tau Aggregation.bioRxiv : the preprint server for biology · 2025Article
- Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities.American journal of human genetics · 2025Article
- Deciding on genetic testing for familial dementia: Perspectives of patients and families.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2025Article
- Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.Neurology · 2025Article
- An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.Neurobiology of aging · 2023Article
- Contributions of rare and common variation to early-onset and atypical dementia risk.Cold Spring Harbor molecular case studies · 2023Article
- Integrated regulation of dopaminergic and epigenetic effectors of neuroprotection in Parkinson's disease models.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Contributions of rare and common variation to early-onset and atypical dementia risk.medRxiv : the preprint server for health sciences · 2023Article
- A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants inGenes · 2022Article
- TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.Cellular and molecular neurobiology · 2022Review
- Heterozygous and Homozygous Variants inInternational journal of molecular sciences · 2022Article
- A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.Genome medicine · 2022Article
- A human tau seeded neuronal cell model recapitulates molecular responses associated with Alzheimer's disease.Scientific reports · 2022Article
- Identification of recurrent genetic patterns from targeted sequencing panels with advanced data science: a case-study on sporadic and genetic neurodegenerative diseases.BMC medical genomics · 2022Article
- Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.Frontiers in aging neuroscience · 2022Article
- TM2D genes regulate Notch signaling and neuronal function in Drosophila.PLoS genetics · 2021Article
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Authors and funding
20 authors at 3 institutions in 1 country.
J Nicholas CochranHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0002-6027-5052
Emily C McKinleyAlzheimer's Disease Center, Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.ORCID 0000-0002-7265-480X
Meagan CochranHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Michelle D AmaralHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Bryan A MoyersHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Brittany N LasseigneHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0002-1642-8904
David E GrayHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
James M J LawlorHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0003-1735-1766
Jeremy W ProkopHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0002-1818-9695
Ethan G GeierDepartment of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, California 94158, USA.
James M HoltHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0001-6411-9236
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
J Scott NewberryHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Jennifer S YokoyamaDepartment of Neurology, Memory and Aging Center, University of California San Francisco, San Francisco, California 94158, USA.
Elizabeth A WortheyHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
David S GeldmacherAlzheimer's Disease Center, Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.
Marissa Natelson LoveAlzheimer's Disease Center, Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.ORCID 0000-0002-7537-3587
Gregory M CooperHudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.
Richard M Myers *HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806, USA.ORCID 0000-0001-9701-676X
Erik D Roberson *Alzheimer's Disease Center, Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.
HudsonAlpha Institute for Biotechnology · USUniversity of Alabama at Birmingham · USUniversity of California, San Francisco · US
Funding
Research Education ComponentP30AG062422 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Gil Dan Rabinovici · 2019 to 2026
$36.9MSouth-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9MNHGRI NIH HHS U01 HG007301NIA NIH HHS P30 AG062422
Abstract
We assessed the results of genome sequencing for early-onset dementia. Participants were selected from a memory disorders clinic. Genome sequencing was performed along with
Indexed as
AgedAllelesAlzheimer DiseaseApolipoprotein E4Base SequenceC9orf72 ProteinChromosome MappingDementiaFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyHumansMaleMiddle AgedApolipoprotein E4C9orf72 ProteinC9orf72 protein, humanAlzheimer diseasefrontotemporal dementia
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.