Associated Papers
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
Clark JSC et al.
Scientific Reports, 2023
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.
Perälä M et al.
Jid Innovations : Skin Science From Molecules to Population Health, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.
Li M et al.
The British Journal of Dermatology, 2023
Phenotypes, endotypes and genotypes of atopic dermatitis and allergy in populations of African ancestry on the continent and diaspora.
Lunjani N et al.
Frontiers in Allergy, 2023
Uncommon variants in FLG2 and TCHHL1 are associated with remission of atopic dermatitis in a large longitudinal US cohort.
Berna R et al.
Archives of Dermatological Research, 2022
Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa.
Zevallos-Morales A et al.
Dermatology Online Journal, 2022
Genetic Variants in Epidermal Differentiation Complex Genes as Predictive Biomarkers for Atopic Eczema, Allergic Sensitization, and Eczema-Associated Asthma in a 6-Year Follow-Up Case-Control Study in Children.
Dębińska A et al.
Journal of Clinical Medicine, 2022
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
Atopic dermatitis in diverse racial and ethnic groups-Variations in epidemiology, genetics, clinical presentation and treatment.
Kaufman BP et al.
Experimental Dermatology, 2018
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
Exome sequencing of filaggrin and related genes in African-American children with atopic dermatitis.
Margolis DJ et al.
The Journal of Investigative Dermatology, 2014
Filaggrin-2 variation is associated with more persistent atopic dermatitis in African American subjects.
Margolis DJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.
Alsalem AB et al.
Plos Genetics, 2013