Cystic fibrosis patients with liver disease are not genetically distinct

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

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Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

American journal of human genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

American journal of human genetics·2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Evidence for a tubular basement membrane-cilia connection in autosomal dominant polycystic kidney disease pathogenesis.

The Journal of clinical investigation·2026

Dietary bioactive compounds modulate intestinal stem cells to alleviate colorectal lesions.

Critical reviews in food science and nutrition·2026

Li-Fraumeni Syndrome: Current Perspectives on Molecular Pathogenesis, Surveillance Strategies, Clinical Management and Pediatric Considerations.

Cureus·2026

GLP-1 Receptor Agonist and GIP/GLP-1 Receptor Dual Agonist Therapeutics at the Intersection of Alcohol Use Disorder, Obesity, and Cardiometabolic Dysfunction.

Biological psychiatry global open science·2026

Molecular diagnostics in paediatric oncology in Latin America: findings from the Latin America Regional Advisory Committee (RAC LATAM) regional assessment.

Ecancermedicalscience·2026

Fecal microbiota and metabolite profiles in patients with osteoarthritis: a cross-sectional study.

Frontiers in cellular and infection microbiology·2026

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Congenital heart defects in the recurrent 2q13 deletion syndrome.

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