Evidence map›Paper›PMID 25184530›Full record

ReviewAnnual review of genomics and human genetics2014

The diverse genetic landscape of neurodevelopmental disorders.

Wen F Hu, Maria H Chahrour, Christopher A Walsh

Abstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers.

0numbers the graph read from it
0cells of the map it votes in
104citing 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

104 citing papers in PubMed.

  1. Article
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  10. Review
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  18. Review
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44 more citing papers are in PubMed but not listed here.

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

3 authors.

Wen F HuDivision of Genetics and Genomics, Department of Medicine; Manton Center for Orphan Disease Research; and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts 02115; email: wenfanhu@hms.harvard.edu , maria.chahrour@childrens.harvard.edu , christopher.walsh@childrens.harvard.edu.
Maria H Chahrour
Christopher A Walsh

Funding

Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0M
Cell Identity Determination In Human Brain: Somatic Mutation and Cell LineageR01NS032457 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Alice Eunjung Lee, Christopher A. Walsh · 1995 to 2026
$12.7M
HUMAN EPILEPSY GENETICS--NEURONAL MIGRATION DISORDERSR01NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 1997 to 2023
$9.5M
Finding Autism Genes by Genomic Copy Number AnalysisR01MH083565 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2007 to 2016
$6.9M
Human Epilepsy Genetics Neuronal Migration DisordersR37NS035129 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI Christopher A. Walsh · 2002 to 2026
$6.5M
Human autism genetics and activity dependent gene activationRC2MH089952 · NIMH · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2009 to 2010
$5.1M
Somatic mutations in epilepsy: whole genome sequence analysis of single neuronsR01NS079277 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI WALSH, CHRISTOPHER A. · 2012 to 2015
$1.4M
Katanin p80: A Role for Regulation of Microtubule Severing in Cortical DevelopmenF31NS083111 · NINDS · HARVARD MEDICAL SCHOOL · PI HU, WEN FAN · 2013 to 2014
$38k
Howard Hughes Medical InstituteNIGMS NIH HHS T32 GM007753NIGMS NIH HHS T32GM007753NIMH NIH HHS 1RC2MH089952NIMH NIH HHS R01 MH083565NIMH NIH HHS R01MH083565NIMH NIH HHS RC2 MH089952NINDS NIH HHS F31 NS083111NINDS NIH HHS F31NS083111NINDS NIH HHS R01 NS032457NINDS NIH HHS R01NS032457NINDS NIH HHS R01 NS035129NINDS NIH HHS R01 NS079277NINDS NIH HHS R01NS079277NINDS NIH HHS R01NS35129NINDS NIH HHS R37 NS035129
6 · The paper itself

Abstract

Advances in genetic tools and sequencing technology in the past few years have vastly expanded our understanding of the genetics of neurodevelopmental disorders. Recent high-throughput sequencing analyses of structural brain malformations, cognitive and neuropsychiatric disorders, and localized cortical dysplasias have uncovered a diverse genetic landscape beyond classic Mendelian patterns of inheritance. The underlying genetic causes of neurodevelopmental disorders implicate numerous cell biological pathways critical for normal brain development.

Indexed as

AllelesCerebral CortexChildChild Development Disorders, PervasiveCytoskeletonDevelopmental DisabilitiesFingersHumansIntellectual DisabilityMalformations of Cortical DevelopmentMicrocephalyMuscle HypotoniaMyopiaNeuronsObesityRetinal Degenerationautismbrain malformationsneurodevelopmentsomatic mutations

Identifiers

PMID25184530
PMCPMC10591257

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.