Population genetics of BRCA1 and BRCA2

Recurrence Incidence and Optimal Surveillance After Complete Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy in Mucinous Appendix Cancer.

Annals of surgical oncology·2025

The effect of citalopram treatment on amyloid-β precursor protein processing and oxidative stress in human hNSC-derived neurons.

Translational psychiatry·2022

Absolute energies and emission line shapes of the L x-ray transitions of lanthanide metals.

Metrologia·2021

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Familial cancer·2021

Contemporary x-ray wavelength metrology and traceability.

Radiation physics and chemistry (Oxford, England : 1993)·2020

Diagnostic per-lesion performance of a simulated gadoxetate disodium-enhanced abbreviated MRI protocol for hepatocellular carcinoma screening.

Clinical radiology·2017

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

American journal of human genetics·2026

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Open medicine (Warsaw, Poland)·2026

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Human mutation·2026

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.

Journal of the Endocrine Society·2026

Specific whole-chromosome identification of the A01/C1 homoeologs through oligonucleotide-based chromosome painting in Brassica species.

The Plant journal : for cell and molecular biology·2026

A Novel Frameshift Variant in SPAG1 Likely Causes Primary Ciliary Dyskinesia in Cocker Spaniels in Australia.

Animal genetics·2026

Multi-omics identification of ZFPM2 and CD44 as key candidates for testicular size in sheep.

Theriogenology·2026

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Population genetics of BRCA1 and BRCA2

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Recurrence Incidence and Optimal Surveillance After Complete Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy in Mucinous Appendix Cancer.

The effect of citalopram treatment on amyloid-β precursor protein processing and oxidative stress in human hNSC-derived neurons.

Absolute energies and emission line shapes of the L x-ray transitions of lanthanide metals.

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Contemporary x-ray wavelength metrology and traceability.

Diagnostic per-lesion performance of a simulated gadoxetate disodium-enhanced abbreviated MRI protocol for hepatocellular carcinoma screening.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

The causal role of plasma protein ratios in ulcerative colitis: insights from mendelian randomization and single-cell sequencing.

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.

Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.

Specific whole-chromosome identification of the A01/C1 homoeologs through oligonucleotide-based chromosome painting in Brassica species.

A Novel Frameshift Variant in SPAG1 Likely Causes Primary Ciliary Dyskinesia in Cocker Spaniels in Australia.

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Population genetics of BRCA1 and BRCA2

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