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
Swiss DNAlysis, 8600 Dübendorf, Switzerland
Interests: cardiogenetics; sudden cardiac death; channelopathies; cardiomyopathies
Interests: cardiogenetics; sudden cardiac death; channelopathies; cardiomyopathies
Institute for Cardiomyopathies, Heidelberg, Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
Interests: genomics; cardiomypathies; digital health; artificial intelligence; gene therapies
Interests: genomics; cardiomypathies; digital health; artificial intelligence; gene therapies
Center for Public Health Genomics, Department of Public Health Sciences, University of Virginia, Charlottesville, VA 22908, USA
Interests: cardiovascular diseases; human genetics; functional genomics; single-cell sequencing; bioinformatics; drug discovery
Special Issues, Collections and Topics in MDPI journals
Interests: cardiovascular diseases; human genetics; functional genomics; single-cell sequencing; bioinformatics; drug discovery
Special Issues, Collections and Topics in MDPI journals
Centre National de Référence pour le Syndrome de Marfan et Apparentés, Service De Cardiologie, Université Paris Cité, Paris, France
Interests: hereditary aortic disease; marfan syndrome; cardiovascular disease; genetics
Interests: hereditary aortic disease; marfan syndrome; cardiovascular disease; genetics
Stebicef Department, Universita di Palermo, University Campus building 16, 90128, Palermo, Italy
Interests: nutrition; aging; longevity; signal transduction pathways; cancer; molecular nutrition
Special Issues, Collections and Topics in MDPI journals
Interests: nutrition; aging; longevity; signal transduction pathways; cancer; molecular nutrition
Special Issues, Collections and Topics in MDPI journals
Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya 468-8503, Japan
Interests: proteoglycan; glycosaminoglycan; chondroitin sulfate; dermatan sulfate; heparan sulfate; Ehlers–Danlos syndrome; spondyloepimetaphyseal dysplasia
Special Issues, Collections and Topics in MDPI journals
Interests: proteoglycan; glycosaminoglycan; chondroitin sulfate; dermatan sulfate; heparan sulfate; Ehlers–Danlos syndrome; spondyloepimetaphyseal dysplasia
Special Issues, Collections and Topics in MDPI journals
Reproductive and Behavioral Physiology, Animal Physiology and Breeding Animals Department, INRAe, 37380 Nouzilly, France
Interests: reproductive biology; female fertility; ovary; phylogenomics; evolution
Interests: reproductive biology; female fertility; ovary; phylogenomics; evolution
Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield Hospitals, London SW3 6NP, UK
Interests: molecular genetics; neurogenetics; cardiac genetics; microcephaly; lissencephaly; encephalopathy; pulmonary fibrosis; cystic fibrosis; ciliopathy; primary ciliary dyskinesia; DNA diagnostics
Interests: molecular genetics; neurogenetics; cardiac genetics; microcephaly; lissencephaly; encephalopathy; pulmonary fibrosis; cystic fibrosis; ciliopathy; primary ciliary dyskinesia; DNA diagnostics
1. School of Medicine, University of Patras, 26500 Patras, Greece
2. Institute of Chemical Engineering Sciences, Foundation for Research and Technology Hellas (FORTH/ICE-HT), 26504 Patras, Greece
Interests: medical genetics and genomics; protein interactomics; network biology
2. Institute of Chemical Engineering Sciences, Foundation for Research and Technology Hellas (FORTH/ICE-HT), 26504 Patras, Greece
Interests: medical genetics and genomics; protein interactomics; network biology
1. Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia 2. Queensland Centre for Mental Health Research, The Park-Centre for Mental Health, Wacol, QLD 4076, Australia
Interests: molecular genetics of schizophrenia and other psychiatric disorders; statistical genetics; functional genomics; gene expression
Special Issues, Collections and Topics in MDPI journals
Interests: molecular genetics of schizophrenia and other psychiatric disorders; statistical genetics; functional genomics; gene expression
Special Issues, Collections and Topics in MDPI journals
School of Life Sciences, Fudan University, Shanghai 200438, China
Interests: cell senescence; aging; RNA; gene regulation; alternative splicing; intron retention; alternative polyadenylation; 3′ UTR
Special Issues, Collections and Topics in MDPI journals
Interests: cell senescence; aging; RNA; gene regulation; alternative splicing; intron retention; alternative polyadenylation; 3′ UTR
Special Issues, Collections and Topics in MDPI journals
School of Biomedical Sciences, Faculty of Health, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD 4000, Australia
Interests: genetic epidemiology; gene mapping; complex genetic disease; statistical genetics; migraine; neurogenetics
Interests: genetic epidemiology; gene mapping; complex genetic disease; statistical genetics; migraine; neurogenetics
Department of Medical, Surgical Sciences and Advanced, Technologies, Università degli Studi di Catania, 95124 Catania, Italy
Interests: hematology; leukemia; lymphoma; multiple myeloma; myeloproliferative disorders; myelofibrosis; essential thrombocythemia; polycythemia vera genetic
Interests: hematology; leukemia; lymphoma; multiple myeloma; myeloproliferative disorders; myelofibrosis; essential thrombocythemia; polycythemia vera genetic
Institute of Legal Medicine, Medical University of Innsbruck, Muellerstrasse 44, 6020 Innsbruck, Austria
Interests: forensic genetics; mitochondrial DNA; human identification; forensic DNA phenotyping
Special Issues, Collections and Topics in MDPI journals
Interests: forensic genetics; mitochondrial DNA; human identification; forensic DNA phenotyping
Special Issues, Collections and Topics in MDPI journals
Ludwik Hirszfeld Institute of Immunology and Experimental Therapy of the Polish Academy of Sciences, Wroclaw, Poland
Interests: immunology
Interests: immunology
Center for Computational Biology, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Interests: computational biology; transcriptome reconstruction; gene finding; next generation sequence analysis
Interests: computational biology; transcriptome reconstruction; gene finding; next generation sequence analysis
College of Life Sciences, Brigham Young University, Provo, UT 84602-1050, USA
Interests: bioinformatics; comparative genomics; multiple sequence alignments; phylogenetic trees; host–pathogen interactions
Special Issues, Collections and Topics in MDPI journals
Interests: bioinformatics; comparative genomics; multiple sequence alignments; phylogenetic trees; host–pathogen interactions
Special Issues, Collections and Topics in MDPI journals
Department of Precision Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy
Interests: neuromuscular disorders; intellectual disability; rare diseases; neurofibromatosis; RASopathies; NGS; molecular diagnostics; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
Interests: neuromuscular disorders; intellectual disability; rare diseases; neurofibromatosis; RASopathies; NGS; molecular diagnostics; genotype–phenotype correlations
Special Issues, Collections and Topics in MDPI journals
1. Eberly College of Science, Penn State University, 517 Thomas St, State Coll, PA 16803, USA
2. St. Catherine Hospital and Universities of Split, Osijek and Rijeka, 49210 Zabok, Croatia
Interests: personalised medicine; stem cells; pharmacogenetics; paediatrics; DNA analysis; human diseases; bone diseases; forensic genetics; population genetics
Special Issues, Collections and Topics in MDPI journals
2. St. Catherine Hospital and Universities of Split, Osijek and Rijeka, 49210 Zabok, Croatia
Interests: personalised medicine; stem cells; pharmacogenetics; paediatrics; DNA analysis; human diseases; bone diseases; forensic genetics; population genetics
Special Issues, Collections and Topics in MDPI journals
SSD Genetica Medica, Grande Ospedale Metropolitano “Bianchi- Melacrino- Morelli”, 89128 Reggio Calabria, Italy
Interests: dysmorphology/syndromology; overgrowth syndromes; genetics; genotype-phenotype correlation; whole genome sequencing; mutation; genetic counselling; recurrence risk; rare disease; oncogenetics; familial cancer genetics; personalised medicine; target therapy
Special Issues, Collections and Topics in MDPI journals
Interests: dysmorphology/syndromology; overgrowth syndromes; genetics; genotype-phenotype correlation; whole genome sequencing; mutation; genetic counselling; recurrence risk; rare disease; oncogenetics; familial cancer genetics; personalised medicine; target therapy
Special Issues, Collections and Topics in MDPI journals
MRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK
Interests: population genetics; genetic epidemiology; molecular genetics; medical education
Special Issues, Collections and Topics in MDPI journals
Interests: population genetics; genetic epidemiology; molecular genetics; medical education
Special Issues, Collections and Topics in MDPI journals
Mass Eye and Ear, Mass General Brigham, Harvard Medical School, Boston, MA, USA
Interests: ocular genomics; gene functions; disease models
Special Issues, Collections and Topics in MDPI journals
Interests: ocular genomics; gene functions; disease models
Special Issues, Collections and Topics in MDPI journals
Department of Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy
Interests: genetics of longevity; mitochondrial contribution to aging and age-related diseases; miRNA as markers of aging
Special Issues, Collections and Topics in MDPI journals
Interests: genetics of longevity; mitochondrial contribution to aging and age-related diseases; miRNA as markers of aging
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. François Rousseau
Section Board Member
Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicinem, CHU de Québec & Université Laval, Québec, QC G1L 3L5, Canada
Interests: laboratory medicine; evidence based laboratory medicine; health technology assessment; human molecular genetics; genetics and genomic applications in health; health economics; health services research; prenatal genomic screening; cell free DNA genomic analyses
Interests: laboratory medicine; evidence based laboratory medicine; health technology assessment; human molecular genetics; genetics and genomic applications in health; health economics; health services research; prenatal genomic screening; cell free DNA genomic analyses
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Imagine–Institute of Genetic Diseases, Paris Descartes University, 75015 Paris, France
Interests: congenital and childhood-onset inherited retinal dystrophy, including ciliopathies (nonsyndromic and syndromic); primary optic neuropathy; ocular developmental defects; gene discovery; genotype–phenotype associations; genome sequencing; noncoding variant analysis; antisense oligonucleotide-mediated therapy of intronic mutations; ocular genomic medicine
Special Issues, Collections and Topics in MDPI journals
Interests: congenital and childhood-onset inherited retinal dystrophy, including ciliopathies (nonsyndromic and syndromic); primary optic neuropathy; ocular developmental defects; gene discovery; genotype–phenotype associations; genome sequencing; noncoding variant analysis; antisense oligonucleotide-mediated therapy of intronic mutations; ocular genomic medicine
Special Issues, Collections and Topics in MDPI journals
Institute for Anthropological Research, Gajeva 32, 10000 Zagreb, Croatia
Interests: human population genetics; isolated populations; ADME genes; uniparental DNA markers
Special Issues, Collections and Topics in MDPI journals
Interests: human population genetics; isolated populations; ADME genes; uniparental DNA markers
Special Issues, Collections and Topics in MDPI journals
Department of Orthopedic Surgery, Rush Medical College, 600 S. Paulina St., Chicago, IL 60612, USA
Interests: phenotyping/phenomics of spine imaging and pain; omics approaches of spine degeneration and pain; biomarker discovery; translational epidemiology; novel imaging and targeted therapeutics; evidence-based spine care
Interests: phenotyping/phenomics of spine imaging and pain; omics approaches of spine degeneration and pain; biomarker discovery; translational epidemiology; novel imaging and targeted therapeutics; evidence-based spine care
Department of Zoology, Genetics and Physical Anthropology, University of Santiago de Compostela, Santiago de Compostela, 15705 Galicia, Spain
Interests: zebrafish; Danio rerio; animal models for human disease; xenograft of tumor cells; toxicity
Special Issues, Collections and Topics in MDPI journals
Interests: zebrafish; Danio rerio; animal models for human disease; xenograft of tumor cells; toxicity
Special Issues, Collections and Topics in MDPI journals
1. Department of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA
2. Center for Children's Surgery, Children's Hospital Colorado, Aurora, CO 80045, USA
Interests: genetic epidemiology; hearing loss; otitis media; otolaryngology; sleep apnea; vestibular/balance disorders
2. Center for Children's Surgery, Children's Hospital Colorado, Aurora, CO 80045, USA
Interests: genetic epidemiology; hearing loss; otitis media; otolaryngology; sleep apnea; vestibular/balance disorders
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: human genetics; exome/genome sequencing; regulatory regions; eye development; ocular disorders
Interests: human genetics; exome/genome sequencing; regulatory regions; eye development; ocular disorders
