Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing 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.
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
12 authors.
Nuno MaiaUnidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0003-3274-2474
Maria João Nabais SáUnit for Multidisciplinary Research in Biomedicine (UMIB), Laboratory for Integrative and Translational Research in Population Health (ITR), Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, 4050-313 Porto, Portugal.
Cláudia OliveiraLaboratório Citogenética, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal.ORCID 0000-0003-0556-406X
Flávia SantosUnidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.
Célia Azevedo SoaresUnit for Multidisciplinary Research in Biomedicine (UMIB), Laboratory for Integrative and Translational Research in Population Health (ITR), Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, 4050-313 Porto, Portugal.
Catarina PriorUnidade de Neurodesenvolvimento do Serviço de Pediatria do Centro Materno-Infantil do Norte (CMIN), Centro Hospitalar Universitário do Porto (CHUPorto), 4050-651 Porto, Portugal.
Nataliya TkachenkoServiço de Genética Médica, Centro de Genética Médica Doutor Jacinto Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.
Rosário SantosUnidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0002-8594-6377
Arjan P M de BrouwerDepartment of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0002-2131-0484
Ariana JacomeChromosome Instability and Dynamics Lab. (CID), Instituto de Inovação e Investigação (i3S), Universidade do Porto, 4200-135 Porto, Portugal.ORCID 0000-0002-2980-7399
Beatriz PortoLaboratório Citogenética, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal.ORCID 0000-0003-4281-5438
Paula JorgeUnidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal.ORCID 0000-0002-6507-222X
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked
Indexed as
Chromosomal InstabilityPhenotypeBRCA1 ProteinBRCA2 ProteinDNA DamageDNA RepairFanconi Anemia Complementation Group G ProteinFemaleHistone DeacetylasesHumansInfant, NewbornMutationNeurodevelopmental DisordersRepressor ProteinsBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanFANCG protein, humanFanconi Anemia Complementation Group G ProteinHDAC8 protein, humanHistone DeacetylasesRepressor Proteinschromosome instabilityDNA repair pathwaysneurodevelopmental disorder
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.
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder? · full record | OpenQuestion