ArticleNPJ genomic medicine2019
Expanding the neurodevelopmental phenotypes of individuals with de novo
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In one paragraph
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.5field-weighted citation impact, top 11% of its field
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.
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.
Who cites it
25 citing papers in PubMed, 44 citations in OpenAlex.
- Wiedemann-Steiner Syndrome (WSS): A Neonatal Case Report Expanding the Phenotypic Spectrum of a Previously Reported Missense Variant.International journal of molecular sciences · 2026Review
- Review
- Heterozygous frameshift KMT2A variant in a patient with Wiedemann-Steiner syndrome.Human genome variation · 2026Article
- Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis.Human genetics · 2026Article
- Revisiting Wiedemann-Steiner Syndrome: NovelBalkan medical journal · 2026Article
- Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.European journal of pediatrics · 2025Article
- Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.BMC pediatrics · 2025Review
- Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 cases.Orphanet journal of rare diseases · 2025Article
- Epigenetic regulation ofAutophagy · 2024Review
- Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Scientific reports · 2023Article
- A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.Molecular cytogenetics · 2023Article
- Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing.Journal of the International Neuropsychological Society : JINS · 2023Article
- Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery.Journal of neurodevelopmental disorders · 2023Review
- Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review.Children (Basel, Switzerland) · 2023Review
- Anxiety in Wiedemann-Steiner syndrome.American journal of medical genetics. Part A · 2023Article
- The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities.Frontiers in neuroscience · 2023Review
- Wiedemann-Steiner Syndrome: Case Report and Review of Literature.Children (Basel, Switzerland) · 2022Article
- The role of KMT2 gene in human tumors.Histology and histopathology · 2022Review
- Clinical Utility of a Unique Genome-Wide DNA Methylation Signature forInternational journal of molecular sciences · 2022Article
- Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome.Frontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 3 institutions in 2 countries.
Ada J S Chan1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Cheryl Cytrynbaum2Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.ORCID 0000-0002-3742-1250
Ny Hoang2Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
Patricia M Ambrozewicz6Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Rosanna Weksberg2Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
Irene DrmicRon Joyce Children's Health Centre, Hamilton Health Services, Hamilton, ON Canada.
Anne Ritzema6Autism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Russell Schachar11Department of Psychiatry, The Hospital for Sick Children, Toronto, ON Canada.
Susan Walker1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Mohammed Uddin1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Mehdi Zarrei1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
Ryan K C Yuen1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-7273-4968
Stephen W Scherer1The Centre for Applied Genomics, Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON Canada.
University of Toronto · CAHospital for Sick Children · CAHamilton Health Sciences · CA
Funding
Subject CollectionU10AA008401 · NIAAA · SUNY DOWNSTATE MEDICAL CENTER · PI JESSICA E SALVATORE · 1989 to 2026
$162.7MJH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2MThe Collaborative Genetic Study of Nicotine DependenceP01CA089392 · NCI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2001 to 2012
$17.3MGenome Wide Association Coordinating CenterU01HG004446 · NHGRI · UNIVERSITY OF WASHINGTON · PI WEIR, BRUCE S. · 2007 to 2011
$6.6MFAMILY STUDY OF COCAINE DEPENDENCER01DA013423 · NIDA · WASHINGTON UNIVERSITY · PI BIERUT, LAURA JEAN · 2000 to 2004
$2.2MStudy of Addiction: Genetics and EnvironmentU01HG004422 · NHGRI · WASHINGTON UNIVERSITY · PI BIERUT, LAURA J. · 2007 to 2010
$1.2MNCI NIH HHS P01 CA089392NHGRI NIH HHS HHSN268200782096CNHGRI NIH HHS U01 HG004422NHGRI NIH HHS U01 HG004438NHGRI NIH HHS U01 HG004446NIAAA NIH HHS U10 AA008401NIDA NIH HHS R01 DA013423
Abstract
De novo loss-of-function (LoF) variants in the
Indexed as
Autism spectrum disordersDisease genetics
Identifiers
What OpenQuestion holds
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Read underepoch 390
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.