Editorial Board for section 'Human Genomics and Genetic Diseases'
- Animal Genetics and Genomics Section
- Human Genomics and Genetic Diseases Section
- Molecular Genetics and Genomics Section
- Microbial Genetics and Genomics Section
- Population and Evolutionary Genetics and Genomics Section
- Plant Genetics and Genomics Section
- Technologies and Resources for Genetics Section
- Epigenomics Section
- Neurogenomics Section
- Pharmacogenetics Section
- RNA Section
- Toxicogenomics Section
- Bioinformatics Section
- Cytogenomics Section
- Genes & Environments Section
- Genetic Diagnosis Section
- Transgenic Technology Section
- Viral Genomics Section
Please see the section webpage for more information on this section.
Please note that the order in which the Editors appear on this page is alphabetical, and follows the structure of the editorial board presented on the MDPI website under information for editors: editorial board responsibilities.
Members
Interests: lung cancer; sequencing; immunotherapy; thoracic surgery; liquid biopsy; microbiome; genome analysis
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Interests: genetic eye disease; glaucoma; ocular electrophysiology; children's eye disease and laser assisted cataract surgery
Interests: ophthalmogenetics; albinism; retinal dystrophies; microphthalmia; optic atrophy; Sequencevariations; NGS, exome and wholegenome sequencing; genetic code; gene structure; human genetics; medical genetics; gene therapy; personal medicine; genome projects; genomics
Interests: aging; DNA damage/repair; cellular senescence; metabolism; mitochondria
2. Cardiovascular Research Institute Düsseldorf (CARID), Medical Faculty, University Hospital, Heinrich-Heine University Duesseldorf, 40225 Duesseldorf, Germany
Interests: cardiovascular diseases; redox regulation; mitochondria; aging
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Interests: acute lung injury; asthma; lung diseases; respiration disorders; genetic
Interests: gene therapy; mRNA therapy; siRNA therapy; gene editing; CRISPR; non-viral; nanoparticles; delivery; cystic fibrosis
Interests: neuroophthalmology and genetic eye diseases; cataractogenesis; advanced cataract surgery; stem cell research
Interests: gene regulation; chromatin; histone modifications; polycomb; nuclear organisations; DNA methylation
Interests: BARD1; BRCA1; BARD1 splicing; BARD1 isoforms; breast cancer; ovarian cancer; lung cancer; biomarkers; treatment targets
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Interests: gene expression; stem cell biology; regenerative medicine; stem cells; stem cell differentiation; stem cell culture; embryonic development; regeneration; pluripotent stem cells; iPS; cellular reprogramming
2. Division of Human Genetics, Medical University of Innsbruck, Anichstrasse 35, 6020 Innsbruck, Austria
Interests: genome sequencing; pediatric gastroenterology; hepatology; skeletal dysplasia; skeletal disorders; retinal disorders; corneal dystrophies
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Interests: molecular genetics; HLA; immunogenetics; cancer genetics
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Interests: genome interpretation; protein coding variants; pathogenic effects; disease driver genes
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Interests: gene therapy; target genes; biomarkers; diabetes; inflammatory lung disease; stem cell therapy; autoimmune and chronic inflammatory diseases
Interests: genomics; nephrogenetics; focal segmental glomerulosclerosis; congenital anomalies of the kidney and urinary tract; renal ciliopathies; zebrafish
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Interests: genetics of autoimmune diseases in humans and dogs; innate immunity; gene structure and regulation; alternative splicing
Interests: chromosomal instability; carcinoma of unknown primary (CUP) syndrome; acute myeloid leukemia
2. Department of Experimental Epileptology and Cognition Research, University Hospital Bonn, 53127 Bonn, Germany
Interests: mitochondrial DNA; somatic mutations in mtDNA; mitochondrial diseases; genetic epilepsies
Interests: complex disease genetics; genetic mapping; genomics; systems genetics; rodent models of cardiometabolic disease; model organism databases
Interests: genome research; tumor systems biology; technology development
Interests: RNA processing; gene fusion; chromosomal rearrangement; chimeric RNA; oncogene
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Interests: Immunogenetics; ageing-associated diseases; genetic predictive markers in multifactorial diseases; genetic predictive markers in immune diseases; genetic predictive markers in infectious diseases; immunogenetics of Down’s syndrome
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Interests: human congenital heart disease; genetics and epigenetics; left-right patterning in cardiovascular development; mouse forward genetic screens
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Interests: neuropsychiatric disorders; schizophrenia; depression; ADHD; autism; substance dependence; genetics; risk SNPs; mRNA expression
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Interests: pulmonary arterial hypertension; rare and common genetic variation in pulmonary arterial hypertension; next generation sequencing analysis of childhood pulmonary arterial hypertension; genetic factors underlying Adams-Oliver syndrome; analysis of under-studied patient populations in rare disease
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Interests: psychiatric genetics; schizophrenia; mood disorders; genomics; transcriptomic
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2. Institute for Molecular Bioscience, University of Queensland, Queensland, Australia
3. College of Medicine and Dentistry, James Cook University, Queensland, Australia
4. Department of Renal Medicine, Townsville University Hospital, Queensland, Australia
Interests: nephrology; kidney disease; genetic kidney disease; nephrogenetics; genomics
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2. Faculty of Medicine, University of Barcelona (UB), 08007 Barcelona, Spain
Interests: genetics and reproduction; gynaecology; fertility; assisted reproduction tecniques; ovarian failure; recurrent pregnancy lost
Interests: molecular epidemiology of rare and complex disorders; improving the lives of individuals living and working with rare disease(s) with a focus on diagnosis, reporting, information and communication
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