Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature communications·2019

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Autophagy·2017

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

Clinical genetics·2016

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Clinical genetics·2016

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Clinical genetics·2016

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Molecular psychiatry·2012

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

Human molecular genetics·2026

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

Human molecular genetics·2026

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Human molecular genetics·2026

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Human molecular genetics·2026

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

Human molecular genetics·2026

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Human molecular genetics·2026

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

bioRxiv : the preprint server for biology·2026

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

bioRxiv : the preprint server for biology·2026

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genomics, proteomics & bioinformatics·2026

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Nature communications·2026

Related Experiment Videos

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)

Related Concept Videos

Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.

Zebrafish knockout models of atxn1a, atxn1b, and atxn1l reveal distinct and shared phenotypic and transcriptomic alterations.

PONG 2.0: allele imputation for the killer cell immunoglobulin-like receptors.

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.

Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.

Mucolipidosis II: novel variants, clinical variation and assessment of HAP1 cells as a disease model.

CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Related Experiment Videos

Dinucleotide repeat polymorphism mapping to the critical region for lissencephaly (17p13.3)

Related Concept Videos

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