Last Updated: 09/26/2026
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Found 276 publications
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: July 03, 2026
AAV-mediated CBLN1 replacement rescues hereditary ataxia caused by biallelic CBLN1 variants.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: April 21, 2026
Addressing the needs of nano-rare patients: the n-Lorem experience.
Journal: Nucleic acids research
Published: January 28, 2026
When loss is gain: truncating mutations in additional sex combs (ASXL) gene family in cancer and neurodevelopment.
Journal: Trends in genetics : TIG
Published: December 17, 2025
Expanding the phenotypic and immunological landscape of Alazami syndrome: Evidence from seven new patients with LARP7 gene variants.
Journal: European journal of pediatrics
Published: December 01, 2025
De novo mutations and environmental modifiers: lessons from neural tube defects.
Journal: Trends in genetics : TIG
Published: November 30, 2025
Direct identification of de novo mobile element insertions from single molecule sequencing of human sperm.
Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025
Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.
Journal: Nature medicine
Published: October 12, 2025
A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations.
Journal: bioRxiv : the preprint server for biology
Published: September 26, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
Journal: American journal of human genetics
Published: July 14, 2025
Last Updated: 09/26/2026