Evidence map›Paper›PMID 27900366›Full record

ArticleCold Spring Harbor molecular case studies2016

Exome sequencing reveals germline gain-of-function

Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng

Open access · diamondAbstract readCase Reports

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 8 papers.

0numbers the graph read from it

0cells of the map it votes in

8citing 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

8 citing papers in PubMed, 26 citations in OpenAlex.

Defining the Cell Surface Cysteinome Using Two-Step Enrichment Proteomics.JACS Au · 2023
Article
Defining the Cell Surface Cysteinome using Two-step Enrichment Proteomics.bioRxiv : the preprint server for biology · 2023
Article
Clinical outcome of Brazilian patients with non-small cell lung cancer in early stage harboring rare mutations in epidermal growth factor receptor.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2023
Article
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.Orphanet journal of rare diseases · 2022
Article
Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.Endocrine pathology · 2021
Review
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?Human molecular genetics · 2020
Review
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020
Article
Evidence from single nucleotide polymorphism analyses of ADVANCE study demonstrates EFNB3 as a hypertension risk gene.Scientific reports · 2017
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

7 authors at 1 institution in 1 country.

Samantha ColbyGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Case Western Reserve University School of Medicine, Cleveland, Ohio 44195, USA.

Lamis YehiaGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.

Farshad NiaziGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

JinLian ChenGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

Ying NiGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

Jessica L MesterGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.ORCID 0000-0001-9374-3185

Charis EngGenomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA;; Taussig Cancer Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA;; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA;; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA;; Germline High Risk Focus Group, CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, Ohio 44106, USA.ORCID 0000-0002-3693-5145

Cleveland Clinic · US

Funding

Selective Modulation of Thyroidal RadioiodineP01CA124570 · NCI · OHIO STATE UNIVERSITY · PI RINGEL, MATTHEW D · 2008 to 2017

$23.4M

Leica TCS SP8 Confocal Microscope for a Core FacilityS10OD019972 · OD · CLEVELAND CLINIC LERNER COM-CWRU · PI DRAZBA, JUDY · 2015 to 2015

$544k

NCI NIH HHS P01 CA124570NIH HHS S10 OD019972

6 · The paper itself

Abstract

Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline

Indexed as

AdultCerebellar NeoplasmsCerebellumErbB ReceptorsExomeFemaleGain of Function MutationGanglioneuromaGenetic Predisposition to DiseaseGerm CellsGerm-Line MutationHamartoma Syndrome, MultipleHeterozygoteHumansMutationSignal TransductionEGFR protein, humanErbB Receptorsneoplasm of the nervous system

Identifiers

PMID27900366

DOI10.1101/mcs.a001230

PMCPMC5111001

OpenAlexW2549290739

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.