ArticlePLoS currents2017
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.
Article in PLoS currents, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 11 citations in OpenAlex.
- Ultrasound and genetic findings in a case series of fetuses presenting vertebral defects.BMC pregnancy and childbirth · 2025Article
- Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.Journal of neurodevelopmental disorders · 2021Article
- The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.Journal of personalized medicine · 2020Article
- Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.Molecular genetics & genomic medicine · 2020Article
- Limitations of exome sequencing in detecting rare and undiagnosed diseases.American journal of medical genetics. Part A · 2020Article
- 22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy.Cold Spring Harbor molecular case studies · 2019Review
- Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing.Scientific reports · 2019Article
- Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.BMC medical genetics · 2018Article
- Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.International journal of molecular sciences · 2016Article
- Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.BioMed research international · 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
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionChromosomal microarray analysis (CMA) is recognized as the first-tier test in the genetic evaluation of children with developmental delays, intellectual disabilities, congenital anomalies and autism spectrum disorders of unknown etiology. ARRAY
designTo optimize detection of clinically relevant copy number variants associated with these conditions, we designed a whole-genome microarray, FirstStep RESULTS AND DISCUSSION: Clinical testing of this patient population is validated on DNA from either non-invasive buccal swabs or traditional blood samples. In this report we provide data demonstrating the analytic and clinical validity of FSDX and provide an overview of results from the first 7,570 consecutive patients tested clinically. We further demonstrate that buccal sampling is an effective method of obtaining DNA samples, which may provide improved results compared to traditional blood sampling for patients with neurodevelopmental disorders who exhibit somatic mosaicism.
Identifiers
28357155PMC5346028W2951665893What 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.