Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnostic findings and yield of investigations for children with developmental regression.

American journal of medical genetics. Part A - 1 Aug 2024

Furley Kirsten, Hunter Matthew F, Fahey Michael, Williams Katrina

Abstract excerpt

Childhood conditions that feature developmental regression are poorly understood. Phenotype-genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective chart review of children presenting with developmental regression to a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autistic Disorder
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Developmental Disabilities

Share to Exome Sequencing

Share to Genetic Testing

Share to Infant

Share to Intellectual Disability

Source

Identifiers

PMID: 38536866
DOI: 10.1002/ajmg.a.63607

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic findings and yield of investigations for children with developmental regression.PMID 38536866Read ↗

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.Semantic proximity Read ↗

Large Genetic Study Uncovers 14 New Genes Responsible for Developmental Disorders in Children.Semantic proximity Read ↗

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.Semantic proximity Read ↗

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?Semantic proximity Read ↗

Clinical use of whole exome sequencing in children with developmental delay/intellectual disabilitySemantic proximity Read ↗

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.Semantic proximity Read ↗

Clinical and genetic factors associated with regression in children with autism spectrum disordersSemantic proximity Read ↗

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing GuidelinesSemantic proximity Read ↗

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.Semantic proximity Read ↗

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective studySemantic proximity Read ↗

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability A systematic review and meta-analysisSemantic proximity Read ↗

Prevalence and architecture of de novo mutations in developmental disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.