ArticleBiology open2018
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.
Article in Biology open, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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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.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- Review
- The role of Goldilocks protein kinase DYRK1A in embryonic development.Developmental biology · 2025Review
- Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.Neurogenetics · 2024Article
- Dyrk1a is required for craniofacial development in Xenopus laevis.Developmental biology · 2024Article
- Functional characterization of two DYRK1B variants causative of AOMS3.Orphanet journal of rare diseases · 2024Article
- Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.Journal of autism and developmental disorders · 2024Article
- Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.Autism research : official journal of the International Society for Autism Research · 2023Article
- Article
- Identification of two novel and one rare mutation inFrontiers in genetics · 2023Article
- Case report: A novelFrontiers in neuroscience · 2023Article
- Embryonic organizer formation disorder leads to multiorgan dysplasia in Down syndrome.Cell death & disease · 2022Article
- Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.European journal of human genetics : EJHG · 2022Article
- Differential maturation and chaperone dependence of the paralogous protein kinases DYRK1A and DYRK1B.Scientific reports · 2022Article
- Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview.International journal of molecular sciences · 2021Review
- DYRK1A: a down syndrome-related dual protein kinase with a versatile role in tumorigenesis.Cellular and molecular life sciences : CMLS · 2021Review
- A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.Scientific reports · 2020Article
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome.Neurobiology of disease · 2019Article
- The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair.Scientific reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Haploinsufficiency of
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.