Evidence map›Paper›PMID 28111752›Full record

ArticleClinical genetics2017

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.

D Stern, M T Cho, R Chikarmane, R Willaert, K Retterer, F Kendall, M Deardorff, S Hopkins, E Bedoukian, A Slavotinek and 15 more

Open access · greenAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
0.8field-weighted citation impact, top 30% 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

21 citing papers in PubMed, 30 citations in OpenAlex.

  1. Review
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  12. First Report of Mexican Patients withMolecular syndromology · 2023
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  13. Review
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  15. Review
  16. Review
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  19. A Novel Multi-Exon Deletion ofFrontiers in genetics · 2021
    Article
  20. Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019
    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

25 authors at 11 institutions in 1 country.

D SternDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.
M T ChoGeneDx, Gaithersburg, MD, USA.
R ChikarmaneGeneDx, Gaithersburg, MD, USA.
R WillaertGeneDx, Gaithersburg, MD, USA.
K RettererGeneDx, Gaithersburg, MD, USA.
F KendallVMP Genetics, Roswell, GA, USA.
M DeardorffDepartment of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
S HopkinsDivision of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
E BedoukianIndividualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
A SlavotinekDepartment of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
S Schrier VerganoDivision of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
B SpanglerDivision of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
M McDonaldDivision of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
A McConkie-RosellDivision of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
B K BurtonDivision of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
K H KimDivision of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
N OundjianValley Hospital, Ridgewood, NJ, USA.
D KronnNew York Medical College, Valhalla, NY, USA.
N ChandyNew York Medical College, Valhalla, NY, USA.
B BaskinGeneDx, Gaithersburg, MD, USA.
M J Guillen SacotoGeneDx, Gaithersburg, MD, USA.
I M WentzensenGeneDx, Gaithersburg, MD, USA.
H M McLaughlinGeneDx, Gaithersburg, MD, USA.
D McKnightGeneDx, Gaithersburg, MD, USA.
W K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.
Children's Hospital of Philadelphia · USChildren's Hospital of The King's Daughters · USColumbia University Irving Medical Center · USDuke Medical Center · USNew York Medical College · USLurie Children's Hospital · USLurie Children's Hospital · USRoswell Park Comprehensive Cancer Center · USUCSF Benioff Children's Hospital · USUniversity of Pennsylvania · USValley Hospital · US

Funding

SHORT-TERM TRAINING: STUDENTS IN PROFESSIONAL SCHOOLST35HL007616 · NHLBI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI RUDOLPH L LEIBEL, Markus Y Mapara · 1985 to 2026
$4.4M
NHLBI NIH HHS T35 HL007616
6 · The paper itself

Abstract

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.

Indexed as

Genetic Predisposition to DiseaseChildChild, PreschoolExome SequencingFemaleGenetic Association StudiesHumansInfantIntellectual DisabilityMaleMutation, MissenseSeizuresVesicular Transport ProteinsPACS1 protein, humanVesicular Transport Proteins

Identifiers

PMID28111752
PMCPMC5513756
OpenAlexW2581065972

What OpenQuestion holds

Textmetadata
LicenceTDM
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.