Evidence map›Paper›PMID 33011761›Full record

ArticleBrain : a journal of neurology2020

Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy.

Ahmed K Saad, Dana Marafi, Tadahiro Mitani, Angad Jolly, Haowei Du, Hasnaa M Elbendary, Shalini N Jhangiani, Zeynep C Akdemir, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs and 6 more

Open access · bronzeAbstract readLetterComment
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain : a journal of neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

7 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.American journal of medical genetics. Part A · 2023
    Article
  5. Centers for Mendelian Genomics: A decade of facilitating gene discovery.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Review
  6. Article
  7. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 2 institutions in 3 countries.

Ahmed K SaadDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Dana MarafiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Tadahiro MitaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Angad JollyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Hasnaa M ElbendaryDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, 77030, USA.
Zeynep C AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Baylor-Hopkins Center for Mendelian Genomics
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Jill V HunterDepartment of Radiology, Baylor College of Medicine, Houston, Texas, 77030, USA.
Claudia M B C CarvalhoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Maha S ZakiDepartment of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030, USA.
Baylor College of Medicine · USNational Research Centre · EG

Funding

The Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3M
Baylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5M
MEDICAL GENETICS RESEARCH FELLOWSHIP PROGRAMT32GM007526 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI Brendan Lee · 1985 to 2026
$11.4M
STRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0M
Individual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831k
NHGRI NIH HHS K08 HG008986NHGRI NIH HHS U54 HG003273NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS T32 GM007526NINDS NIH HHS R35 NS105078
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Cerebellar DiseasesIntellectual DisabilityAtrophyHumansSequence Deletion

Identifiers

PMID33011761
PMCPMC7586085
OpenAlexW3090807434

What OpenQuestion holds

Textmetadata
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.