Evidence map›Paper›PMID 27900365›Full record

ArticleCold Spring Harbor molecular case studies2016

Genome sequencing in a case of Niemann-Pick type C.

Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson and 7 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact
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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Review
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

17 authors.

Max DoughertyUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA;; Department of Genome Sciences, University of Washington, Seattle, Washington 98105, USA.
John LazarUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA;; Department of Genome Sciences, University of Washington, Seattle, Washington 98105, USA.
Jason C KleinUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA;; Department of Genome Sciences, University of Washington, Seattle, Washington 98105, USA.
Karina DiazUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Theodore GobillotUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Eli GrunblattUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Nicholas HasleUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Daniel LawrenceUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Megan MauranoUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Maria NelsonUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Gregory OlsonUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Sanjay SrivatsanUniversity of Washington School of Medicine, Seattle, Washington 98195, USA;; Medical Scientist Training Program (MSTP), University of Washington, Seattle, Washington 98195, USA.
Jay ShendureDepartment of Genome Sciences, University of Washington, Seattle, Washington 98105, USA;; Howard Hughes Medical Institute, Seattle, Washington 98195, USA.
C Dirk KeeneDepartment of Pathology, University of Washington, Seattle, Washington 98195, USA.
Thomas BirdDepartment of Neurology, University of Washington, Seattle, Washington 98105, USA;; Department of Medicine, University of Washington, Seattle, Washington 98195, USA.
Marshall S HorwitzDepartment of Pathology, University of Washington, Seattle, Washington 98195, USA.
Desiree A MarshallDepartment of Pathology, University of Washington, Seattle, Washington 98195, USA.

Funding

University of Washington Medical Scientist Training Program: MD/PhDT32GM007266 · NIGMS · UNIVERSITY OF WASHINGTON · PI HORWITZ, MARSHALL S. · 1985 to 2023
$30.4M
NIGMS NIH HHS T32 GM007266
6 · The paper itself

Abstract

Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in

Indexed as

Base SequenceBrainCarrier ProteinsDementiaGenetic TestingHumansIntracellular Signaling Peptides and ProteinsMaleMembrane GlycoproteinsMutationMutation, MissenseNeurodegenerative DiseasesNeurofibrillary TanglesNiemann-Pick C1 ProteinNiemann-Pick DiseasesNiemann-Pick Disease, Type CCarrier ProteinsIntracellular Signaling Peptides and ProteinsMembrane GlycoproteinsNiemann-Pick C1 ProteinNPC1 protein, humanatrophy/degeneration affecting the cerebrumcentral nervous system degenerationfallshepatosplenomegalyneurodegenerationneuronal loss in central nervous systemprogressive encephalopathyprogressive forgetfulnessprogressive language deteriorationprogressive psychomotor deteriorationslowed slurred speechsocial and occupational deterioration

Identifiers

PMID27900365
PMCPMC5111003

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.