Evidence map›Paper›PMID 27535846›Full record

ArticleHuman genetics2016

Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.

D T Truong, L D Shriberg, S D Smith, K L Chapman, A R Scheer-Cohen, M M C DeMille, A K Adams, A Q Nato, E M Wijsman, J D Eicher and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Human genetics, 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
1.2field-weighted citation impact, top 16% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. A frequent acoustic sign of speech motor delay (SMD).Clinical linguistics & phonetics · 2019
    Article
  7. Article
  8. 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

11 authors at 7 institutions in 1 country.

D T TruongDepartment of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA.
L D ShribergWaisman Center, University of Wisconsin-Madison, Madison, WI, 53705, USA.
S D SmithDepartment of Pediatrics, University of Nebraska at Omaha, Omaha, NE, 68182, USA.
K L ChapmanDepartment of Communication Sciences and Disorders, University of Utah, Salt Lake City, UT, 84112, USA.
A R Scheer-CohenDepartment of Speech-Language Pathology, California State University, San Marcos, CA, 92096, USA.
M M C DeMilleDepartment of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA.
A K AdamsDepartment of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.
A Q NatoDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, 98195, USA.
E M WijsmanDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, 98195, USA.
J D EicherDepartment of Genetics, Yale School of Medicine, New Haven, CT, 06510, USA.
J R GruenDepartment of Pediatrics, Yale School of Medicine, New Haven, CT, 06510, USA. jeffrey.gruen@yale.edu.
Yale University · USCalifornia State University, San Marcos · USCancer Research And Biostatistics · USUniversity of Nebraska at Omaha · USUniversity of Utah · USUniversity of Washington Medical Center · USUniversity of Wisconsin–Madison · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
Skill Development for Diverse Scientific Careers: A New Course Predoctoral Program in Cellular and Molecular BiologyT32GM007223 · NIGMS · YALE UNIVERSITY · PI BASERGA, SUSAN J · 1985 to 2019
$31.0M
WISCONSIN CENTER ON MENTAL RETARDATION: CORE SUPPORTP30HD003352 · NICHD · UNIVERSITY OF WISCONSIN-MADISON · PI MAILICK, MARSHA RUTH · 1985 to 2015
$25.2M
STUDIES IN DEVELOPMENTAL PHONOLOGICAL DISORDERSR01DC000496 · NIDCD · UNIVERSITY OF WISCONSIN-MADISON · PI SHRIBERG, LAWRENCE D · 1988 to 2017
$9.9M
GENETICS AND GENOMICS OF HUMAN DISEASET32HD007149 · NICHD · YALE UNIVERSITY · PI James P Noonan · 1985 to 2026
$8.2M
RESEARCH IN PERINATAL MEDICINET32HD007094 · NICHD · YALE UNIVERSITY · PI GALLAGHER, PATRICK G · 1985 to 2015
$3.6M
2/3 Sequencing Autism Spectrum Disorder Extended PedigreesR01MH094293 · NIMH · UNIVERSITY OF WASHINGTON · PI WIJSMAN, ELLEN M · 2012 to 2016
$1.1M
Pleiotropic Roles of Dyslexia Genes in Neurodevelopmental Language ImpairmentsF31DC012270 · NIDCD · YALE UNIVERSITY · PI EICHER, JOHN · 2011 to 2013
$121k
NCATS NIH HHS UL1 TR001863NICHD NIH HHS P30 HD003352NICHD NIH HHS P50 HD027802NICHD NIH HHS T32 HD007094NICHD NIH HHS T32 HD007149NIDCD NIH HHS F31 DC012270NIDCD NIH HHS R01 DC000496NIGMS NIH HHS T32 GM007223NIMH NIH HHS R01 MH094293
6 · The paper itself

Abstract

Verbal trait disorders encompass a wide range of conditions and are marked by deficits in five domains that impair a person's ability to communicate: speech, language, reading, spelling, and writing. Nonword repetition is a robust endophenotype for verbal trait disorders that is sensitive to cognitive processes critical to verbal development, including auditory processing, phonological working memory, and motor planning and programming. In the present study, we present a six-generation extended pedigree with a history of verbal trait disorders. Using genome-wide multipoint variance component linkage analysis of nonword repetition, we identified a region spanning chromosome 13q14-q21 with LOD = 4.45 between 52 and 55 cM, spanning approximately 5.5 Mb on chromosome 13. This region overlaps with SLI3, a locus implicated in reading disability in families with a history of specific language impairment. Our study of a large multigenerational family with verbal trait disorders further implicates the SLI3 region in verbal trait disorders. Future studies will further refine the specific causal genetic factors in this locus on chromosome 13q that contribute to language traits.

Indexed as

AdolescentAdultAgedAged, 80 and overChildChild, PreschoolChromosome MappingChromosomes, Human, Pair 13Drosophila ProteinsDyslexiaFemaleGenetic LinkageGenetic Predisposition to DiseaseGenotypeHumansLanguage DisordersDrosophila ProteinsMembrane ProteinsNuclear ProteinsOte protein, Drosophila

Identifiers

PMID27535846
PMCPMC5065602
OpenAlexW2512787274

What OpenQuestion holds

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Registered trials

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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.