ArticleHuman genome variation2016
Detection of 1p36 deletion by clinical exome-first diagnostic approach.
Article in Human genome variation, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 22 citations in OpenAlex.
- Prevalence of Pathogenic GermlineGenes · 2022Article
- Functionally confirmed compound heterozygous ADAM17 missense loss-of-function variants cause neonatal inflammatory skin and bowel disease 1.Scientific reports · 2021Article
- Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.Molecular syndromology · 2020Article
- Molecular diagnosis of an infant withHuman genome variation · 2020Article
- Novel compound heterozygousHuman genome variation · 2019Article
- Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.Case reports in obstetrics and gynecology · 2019Article
- Primary microcephaly caused by novel compound heterozygous mutations inHuman genome variation · 2018Article
- Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.Oncotarget · 2017Article
- Genome-first approach diagnosed Cabezas syndrome via novelHuman genome variation · 2017Article
- NovelHuman genome variation · 2017Article
- The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed viaHuman genome variation · 2017Article
- Exome-first approach identified a novel gloss deletion associated with Lowe syndrome.Human genome variation · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.
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.