Yijing L. Liang

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 14 publications

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenita.

Journal: Neurogenetics

Published: April 27, 2026

Maternal immune activation perturbs the brain epitranscriptome.

Maternal immune activation perturbs the brain epitranscriptome.

Journal: Brain, behavior, and immunity

Published: January 29, 2026

Prevention of hydrocephalus with a small oligonucleotide.

Prevention of hydrocephalus with a small oligonucleotide.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: July 29, 2025

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.

Journal: Genome medicine

Published: December 21, 2024

N-6-methyladenosine (m6A) promotes the nuclear retention of mRNAs with intact 5' splice site motifs.

N-6-methyladenosine (m6A) promotes the nuclear retention of mRNAs with intact 5' splice site motifs.

Journal: Life science alliance

Published: November 19, 2024

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy.

Journal: American journal of medical genetics. Part A

Published: October 01, 2024

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.

Journal: The Journal of experimental medicine

Published: March 25, 2024

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Journal: Genome medicine

Published: December 02, 2023

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.

Journal: American journal of medical genetics. Part A

Published: October 20, 2023

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.

Journal: American journal of medical genetics. Part A

Published: August 24, 2023

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance.

Journal: Journal of human genetics

Published: August 08, 2023

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

Journal: Molecular genetics & genomic medicine

Published: January 07, 2023

Showing 1-12 of 14

Last Updated: 09/26/2026