Rephael Stern

About

Rephael Stern is a faculty member at Boston University School of Law. The provided page text does not include specific details about his research focus, background, or key contributions. Therefore, a detailed biography cannot be extracted from the available information.

Research topics

• Medicine
• Psychology
• Psychiatry
• Internal medicine
• Pathology
• Biology
• Neuroscience
• Bioinformatics
• Genetics
• Pediatrics

Selected publications

• New insights into the genetic etiology of Alzheimer’s disease and related dementias

  Nature Genetics · 2022 · 2403 citations

  Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted mi…

  DOI

• Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

  Nature Communications · 2020 · 484 citations

  Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer's dementia, while the APOE2 allele is associated with a lower risk of Alzheimer's dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer's dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer's dementia cases and controls. APOE2/2 was associated with a low Alz…

  PublisherOA PDFDOI

• National Institute of Neurological Disorders and Stroke Consensus Diagnostic Criteria for Traumatic Encephalopathy Syndrome

  Neurology · 2021 · 315 citations

  Senior authorCorresponding

  OBJECTIVE: To develop evidence-informed, expert consensus research diagnostic criteria for traumatic encephalopathy syndrome (TES), the clinical disorder associated with neuropathologically diagnosed chronic traumatic encephalopathy (CTE). METHODS: April, 2019. Before consensus, panelists reviewed evidence from all published cases of CTE with neuropathologic confirmation, and they examined the predictive validity data on clinical features in relation to CTE pathology from a large clinicopatholog…

  DOI

• Anatomically interpretable deep learning of brain age captures domain-specific cognitive impairment

  Proceedings of the National Academy of Sciences · 2023 · 116 citations

  = 359). In individuals with MCI (54% of whom were diagnosed with dementia within 10.9 y from MRI acquisition), BA is significantly better than CA in capturing dementia symptom severity, functional disability, and executive function. Profiles of sex dimorphism and lateralization in brain aging also map onto patterns of neuroanatomic change that reflect cognitive decline. Significant associations between BA and neurocognitive measures suggest that the proposed framework can map, systematically, th…

  DOI

• Validity of the 2014 traumatic encephalopathy syndrome criteria for CTE pathology

  Alzheimer s & Dementia · 2021 · 99 citations

  INTRODUCTION: Validity of the 2014 traumatic encephalopathy syndrome (TES) criteria, proposed to diagnose chronic traumatic encephalopathy (CTE) in life, has not been assessed. METHODS: A total of 336 consecutive brain donors exposed to repetitive head impacts from contact sports, military service, and/or physical violence were included. Blinded to clinical information, neuropathologists applied National Institute on Neurological Disorders and Stroke/National Institute of Biomedical Imaging and…

  DOI

Recent grants

• NIH Grant R56NS078337

  NIH · $786k · 2016

• Chronic Traumatic Encephalopathy: Detection, Diagnosis, Course, and Risk Factors

  NIH · $17.0M · 2015–2023

• NIH Grant P50MH033127

  NIH · $1.5M · 1997

Frequent coauthors

• Keith A. Johnson

  Massachusetts General Hospital

  771 shared

• D. Cheng

  567 shared

• Joseph C. Wu

  486 shared

• Steven E. Arnold

  Harvard University

  422 shared

• Marcelo F. Di Carli

  Harvard University

  405 shared

• Carl K. Hoh

  University of California, San Diego

  405 shared

• Monte S. Buchsbaum

  University of California, Irvine

  405 shared

• Andrew J. Saykin

  Indiana University

  404 shared

Labs

• Rephael Stern LabPI

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