Once doesn't count: Phenotype-driven gene hunting in cohorts

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.

Nucleic acids research·2026

Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common disease.

bioRxiv : the preprint server for biology·2026

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.

HGG advances·2026

Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.

Cytogenetic and genome research·2026

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

European journal of human genetics : EJHG·2026

A Phenotypic Paradigm for Cerebral Palsy Genetics.

medRxiv : the preprint server for health sciences·2026

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Human mutation·2026

Integrative Mendelian Randomization and Single-Cell Pseudotime Analysis Reveal DKK3 as a PI3K-AKT-Modulated Driver of Esophageal Squamous Cell Carcinoma.

Human mutation·2026

Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell Carcinoma.

Human mutation·2026

UBTD1 Drives Ovarian Cancer Progression via Mutation-Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP-1 Signaling.

Human mutation·2026

Correction to "Vimentin Regulates Alternative Polyadenylation and mTOR Signaling via ARVCF to Promote B Cell Lymphoma Progression".

Human mutation·2026

From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.

Human mutation·2026

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

Molecular syndromology·2026

Hippocampal Subfield Volumetry and Navigation in Congenital Blindness.

Hippocampus·2026

A Phenotype-Based Score to Prioritize RNF213 p.R4810K Genotyping in Isolated Intracranial Steno-Occlusive Disease.

Translational stroke research·2026

Genetically inferred effects of brain structure and gene expression on neurodegenerative diseases: a Mendelian randomization study.

Archives of medical science : AMS·2026

Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.

Frontiers in neurology·2026

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort.

Movement disorders : official journal of the Movement Disorder Society·2026

Related Experiment Videos

Once doesn't count: Phenotype-driven gene hunting in cohorts

Related Concept Videos

FABIAN-variant 2026: improved prediction of the effects of DNA variants on transcription factor binding.

Data-driven prioritization of mouse strains for improved preclinical modeling of rare and common disease.

Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing.

Familial Robertsonian Translocation, rob(14;21), with High Risk for Down Syndrome.

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support tools.

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Whole-Exome Sequencing in Undiagnosed Muscular Dystrophies: A High Diagnostic Yield and Novel Insights From Iranian Families.

Integrative Mendelian Randomization and Single-Cell Pseudotime Analysis Reveal DKK3 as a PI3K-AKT-Modulated Driver of Esophageal Squamous Cell Carcinoma.

Single-Cell and Machine Learning Analyses Identify MYDGF as an Immune-Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell Carcinoma.

UBTD1 Drives Ovarian Cancer Progression via Mutation-Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP-1 Signaling.

Correction to "Vimentin Regulates Alternative Polyadenylation and mTOR Signaling via ARVCF to Promote B Cell Lymphoma Progression".

From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.

A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

Hippocampal Subfield Volumetry and Navigation in Congenital Blindness.

A Phenotype-Based Score to Prioritize RNF213 p.R4810K Genotyping in Isolated Intracranial Steno-Occlusive Disease.

Genetically inferred effects of brain structure and gene expression on neurodegenerative diseases: a Mendelian randomization study.

Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.

DNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort.

Related Experiment Videos

Once doesn't count: Phenotype-driven gene hunting in cohorts

Related Concept Videos

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