Evidence map›Paper›PMID 29706646›Full record

ArticleEuropean journal of human genetics : EJHG2018

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wojciech Wiszniewski, Pawel Gawlinski, Tomasz Gambin, Monika Bekiesinska-Figatowska, Ewa Obersztyn, Dorota Antczak-Marach, Zeynep Hande Coban Akdemir, Tamar Harel, Ender Karaca, Marta Jurek and 27 more

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

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 7% 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

26 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.

  1. Pooled it
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  4. A clinical and genotype-phenotype analysis of MACF1 variants.American journal of human genetics · 2025
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  13. TUBB3 and KIF21A in neurodevelopment and disease.Frontiers in neuroscience · 2023
    Review
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  15. RecessiveFrontiers in molecular neuroscience · 2022
    Article
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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

37 authors at 12 institutions in 3 countries.

Wojciech WiszniewskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wiszniew@ohsu.edu.
Pawel GawlinskiDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Tomasz GambinDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Monika Bekiesinska-FigatowskaDepartment of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.
Ewa ObersztynDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Dorota Antczak-MarachClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Zeynep Hande Coban AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Tamar HarelDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Marta JurekDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Katarzyna SobeckaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.ORCID http://orcid.org/0000-0002-9867-063X
Beata NowakowskaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Malgorzata KrukClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Iwona TerczynskaClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Alicja Goszczanska-CiuchtaClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Mariola Rudzka-DybalaClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Ewa JamrozSchool of Medicine in Katowice, Department of Pediatrics and Developmental Age Neurology, Medical University of Silesia, Katowice, Poland.
Antoni PyrkoszDepartment of Medical Genetics, University of Rzeszow, Rzeszow, Poland.
Anna Jakubiuk-TomaszukDepartment of Pediatric Neurology and Rehabilitation, Medical University of Bialystok, Bialystok, Poland.
Piotr IwanowskiDepartment of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Dorota Gieruszczak-BialekDepartment of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
Malgorzata PiotrowiczDepartment of Genetics, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
Maria SasiadekDepartment of Genetics, Wroclaw Medical University, Wroclaw, Poland.
Iwona KochanowskaIndividual Medical Practice in Pediatric Neurology, Szczecin, Poland.
Barbara GurdaDepartment of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Barbara SteinbornDepartment of Developmental Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Mateusz DawidziukDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jennifer CastanedaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Pawel WlasienkoDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Natalia BezniakowDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Dorota Hoffman-ZacharskaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Elzbieta SzczepanikClinic of Neurology of Children and Adolescents, Institute of Mother and Child, Warsaw, Poland.
Eric BoerwinkleHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Baylor College of Medicine · USPoznan University of Medical Sciences · PLChildren's Memorial Health Institute · PLMedical University of Białystok · PLMedical University of Silesia · PLMedical University of Warsaw · PLOregon Health & Science University · USPolish Mother’s Memorial Hospital Research Institute · PLPomeranian Medical University · PLUniversity of Rzeszów · PLWarsaw University of Technology · PLWroclaw Medical University · PL

Funding

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
Nonrecurrent rearrangements, genome architecture and neurodegenerative disease.R01NS058529 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2009 to 2017
$5.0M
Genome analysis to elucidate molecular mechanisms for peripheral neuropathiesK23NS078056 · NINDS · OREGON HEALTH & SCIENCE UNIVERSITY · PI WISZNIEWSKI, WOJCIECH KRZYSZTOF · 2012 to 2016
$783k
NHGRI NIH HHS UM1 HG006542NIGMS NIH HHS T32 GM007526NINDS NIH HHS K23 NS078056NINDS NIH HHS R01 NS058529NINDS NIH HHS R35 NS105078
6 · The paper itself

Abstract

Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies. Variation affecting known MCDs-associated genes was found in 16/54 cases, including 11 patients with SNV, 2 patients with CNV, and 3 patients with both CNV and SNV, at distinct loci. Diagnostic pathogenic SNV and potentially damaging variants of unknown significance (VUS) were identified in two groups of seven individuals each. We demonstrated that de novo variants are important among patients with MCDs as they were identified in 10/16 individuals with a molecular diagnosis. Three patients showed changes in known MCDs genes  and a clinical phenotype beyond the usual characteristics observed, i.e., phenotypic expansion, for a particular known disease gene clinical entity. We also discovered 2 likely candidate genes, CDH4, and ASTN1, with human and animal studies supporting their roles in brain development, and 5 potential candidate genes. Our findings emphasize genetic heterogeneity of MCDs disorders and postulate potential novel candidate genes involved in cerebral cortical development.

Indexed as

DNA Copy Number VariationsExomePolymorphism, Single NucleotideCadherinsFemaleGenetic HeterogeneityHumansMaleMalformations of Cortical DevelopmentNerve Tissue ProteinsReceptors, Cell SurfaceASTN1 protein, humanCadherinsNerve Tissue ProteinsR-cadherinReceptors, Cell Surface

Identifiers

PMID29706646
PMCPMC6057976
OpenAlexW2801493913

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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.