Novel EEF1D Splice Variant Behind Severe Neurodevelopmental Disorder in Iranian Siblings
Whole exome sequencing in a consanguineous Iranian family has identified a novel homozygous splice junction loss variant in EEF1D in ...
Tag: whole exome sequencing
Genomic arm losses flag early relapse after colorectal liver metastasis surgery
Whole-exome and transcriptome sequencing of metachronous colorectal liver metastases reveals that losses of chromosome arms 3p and 5q, together with ...
Germline STAT5B and somatic STAT3 variants converge in a family’s inherited anemia
A case report describes a family carrying an inherited STAT5B variant of uncertain significance in which anemia developed only in ...
BRCA Mutations Shape Immune Landscapes in Ovarian Cancer, Spatial Study Finds
A multi-omics study combining genomics and spatial transcriptomics finds that BRCA-mutated high-grade serous ovarian cancers show stronger interferon and inflammatory ...
Metabolic disorders mimic hereditary spastic paraplegia in Egyptian children
A cross-sectional study of 10 Egyptian children and adolescents found that inherited metabolic disorders can mimic hereditary spastic paraplegia and ...
Dual Williams and Lynch diagnoses found in 20-month-old boy: case report
A case report of a 20-month-old boy found pathogenic variants associated with both Williams syndrome and Lynch syndrome through whole-exome ...
Alzheimer’s tetraploid neurons show enriched somatic single nucleotide variants
A six-brain sequencing study found that Alzheimer’s-associated tetraploid neurons carried excess low-frequency somatic single nucleotide variants, with enrichment for T>C ...
Genetic tests identify three PAX6-linked aniridia variants in Chinese families
A three-family study combined arrays, exome sequencing, karyotyping, quantitative PCR and Sanger sequencing to identify two large deletions and one ...
Novel homozygous FRRS1L variant reported in Chinese girl with DEE37-related symptoms
A single-patient case report documents a novel homozygous FRRS1L variant in a Chinese girl with developmental delay, epilepsy, movement abnormalities, ...
Novel CTNNB1 missense variant identified in child with spastic diplegia and visual defects
A 7-year-old Iranian boy with a previously unreported CTNNB1 missense variant showed developmental delay, spastic diplegia, microcephaly, behavioral problems and ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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