Evidence map›Paper›PMID 35047668›Full record

ArticleNeurology. Genetics2022

Clinical Deep Phenotyping of

Alana S Campbell, Charlotte C G Ho, Merve Atık, Mariet Allen, Sarah Lincoln, Kimberly Malphrus, Thuy Nguyen, Stephanie R Oatman, Morgane Corda, Olivia Conway and 5 more

Open access · goldAbstract read
In one paragraph

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. The ABC's of Alzheimer risk gene ABCA7.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024
    Review
  6. Review
  7. PSEN2 and ABCA7 variants causing early-onset preclinical pathological changes in Alzheimer's disease: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Review
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 1 institution in 1 country.

Alana S CampbellDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Charlotte C G HoDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.ORCID https://orcid.org/0000-0002-9135-1652
Merve AtıkDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Mariet AllenDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Sarah LincolnDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Kimberly MalphrusDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Thuy NguyenDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Stephanie R OatmanDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Morgane CordaDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Olivia ConwayDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Samantha StricklandDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Ronald C PetersenDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Dennis W DicksonDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.ORCID https://orcid.org/0000-0001-7189-7917
Neill R Graff-RadfordDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Nilüfer Ertekin-TanerDepartment of Neurology (A.S.C., S.R.O., N.R.G.-R., N.E.-T.), and Department of Neuroscience (C.C.G.H., M. Atık, M. Allen, S.L., K.M., T.N., S.R.O., M.C., O.C., S.S., D.W.D., N.E.-T.), Mayo Clinic, Jacksonville, FL; and Department of Neurology (R.C.P.), Mayo Clinic, Rochester, MN.
Mayo Clinic in Florida · US

Funding

Research Education ComponentP30AG062677 · NIA · MAYO CLINIC ROCHESTER · PI Walter K. Kremers · 2019 to 2026
$33.5M
Integrating the exposome and methylome to inform brain molecular changes in ADRD across established diverse cohorts.U01AG046139 · NIA · UNIVERSITY OF FLORIDA · PI ERTEKIN-TANER, NILUFER, PETERS, METTE · 2013 to 2022
$24.6M
Harnessing Molecular Networks of Resilience for Therapeutic Discoveries in ADR01AG061796 · NIA · MAYO CLINIC JACKSONVILLE · PI ERTEKIN-TANER, NILUFER · 2018 to 2022
$5.7M
NIA NIH HHS P30 AG062677NIA NIH HHS R01 AG061796NIA NIH HHS U01 AG046139
6 · The paper itself

Abstract

BACKGROUND AND

objectivesPutative loss-of-function (pLOF)

methodsGenotypes were determined for 5,353 individuals evaluated at Mayo Clinic for 6 reported

resultsWe confirmed that DISCUSSION: Our study provides a deep clinical review of phenotypic characteristics of mutation carriers for 6

Identifiers

PMID35047668
PMCPMC8759075
OpenAlexW4205713065

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.