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developmental disorder

Exome Sequencing for Cerebral Palsy Has Sufficient Diagnostic Yield for First-Tier Test

A meta-analysis of prior studies found that the diagnostic yield of exome sequencing for cerebral palsy exceeded 31 percent, similar to other neurodevelopmental disorders.

Cleft Lip-Palate CNV Analysis Uncovers New Clefting Genes

Researchers profiled copy number variants in more than 1,100 individuals, identifying duplications or deletions in known disease genes and in new clefting gene candidates.

Studies Spell Out Rare, Common Variant Contributions to Autism Spectrum Disorder

By analyzing genetic profiles alongside phenotypic data, two research teams characterized distinct roles for rare and common genetic variants linked to autism spectrum disorder.

BGI Fosters Adoption of Stereo-Seq Spatial Transcriptomics Technology
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In four separate studies published this week, researchers showcased the technology by constructing spatiotemporal transcriptomic maps of several model organisms.

Invitae Aims to Aid 'Diagnostic Odyssey' With New Neurodevelopmental Genetic Test Suite
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The package comprises a battery of genetic tests to detect an array of developmental delays, intellectual disabilities, and autism spectrum disorders.

Sep 30, 2021

Sequencing Study Points to Prenatal Development Syndrome, Possible Treatment Strategy

Jul 1, 2021

ACMG Recommends Sequencing as Test for Children With Intellectual Disability, Congenital Anomalies

Jun 15, 2021

Autism Sharing Initiative Brings Federated Data Model to Research, Clinical Care
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Nov 18, 2020

CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients

Oct 19, 2020

Congenital Hydrocephalus Exome Study Reveals Mutations in Early Brain Development Genes

Oct 14, 2020

Developmental Disorder Study Identifies 28 Novel Disease Genes

Oct 7, 2020

Prenatal Diagnosis Society Recommends cfDNA Screening for Autosomal Trisomies in Twin Pregnancies

Aug 24, 2020

Bionano Genomics Acquires Diagnostic Services Provider Lineagen for $9.6M

Aug 7, 2020

Researchers Use CRISPR-Cas13 Platform to Interrogate Gene Function in Animal Embryos

Feb 11, 2020

Oxford Gene Technology Expands NGS Offering Into Constitutional Cytogenetics
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Jan 31, 2020

Copy Number Variants May Influence Clinical Presentation Among Individuals with PTEN Mutations

Oct 11, 2019

Developmental Disorder Study Uncovers Cases Marked by Mobile Genetic Element Insertions

May 16, 2019

Phenotypic Evaluation Helps Uncover Gene Variant Linked to Childhood Epilepsy

May 7, 2019

Gene Panel Analysis Refines Risky Genes in Neurodevelopmental Disorder Cases Marked by Epilepsy

Apr 18, 2019

Pancreatic, Brain Development Gene Found From Patient Exomes

Apr 11, 2019

Hirschsprung's Disease Genetic Analysis Reveals Mix of Common, Rare Risk Variants

Apr 1, 2019

First Epigenetic Signature Test for Inherited Disorders to Launch in the US, Europe
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Jan 24, 2019

Lineagen Hopes Telehealth Partnership Will Expedite Return of Autism Test Results
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Jan 17, 2019

UK Biobank Dataset Helps Elucidate Pathogenicity of Rare Genetic Variants

Jan 10, 2019

Lineagen Taps PWNHealth to Increase Consumer Access to Genetic Tests

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International Team Proposes Checklist for Returning Genomic Research Results

Researchers in the European Journal of Human Genetics present a checklist to guide the return of genomic research results to study participants.

Study Presents New Insights Into How Cancer Cells Overcome Telomere Shortening

Researchers report in Nucleic Acids Research that ATRX-deficient cancer cells have increased activity of the alternative lengthening of telomeres pathway.

Researchers Link Telomere Length With Alzheimer's Disease

Within UK Biobank participants, longer leukocyte telomere length is associated with a reduced risk of dementia, according to a new study in PLOS One.

Nucleotide Base Detected on Near-Earth Asteroid

Among other intriguing compounds, researchers find the nucleotide uracil, a component of RNA sequences, in samples collected from the near-Earth asteroid Ryugu, as they report in Nature Communications.