Editorial Board for section 'Human Genomics and Genetic Diseases'

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


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Section Board Member
Reproductive and Behavioral Physiology, Animal Physiology and Breeding Animals Department, INRAe, 37380 Nouzilly, France
Interests: reproductive biology; female fertility; ovary; phylogenomics; evolution

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
Department of Biology, University of New Brunswick, P.O. Box 4400, Fredericton, NB E3B 5A3, Canada
Interests: evolution of multicellularity; evolution of cell differentiation and development; evolution of cooperation and altruism; evolution and cancer; green algae
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
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

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Section Board Member
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

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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

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Section Board Member
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

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Section Board Member
1. INSERM U1016, Cochin Institute, CARPEM, Paris Descartes University, Sorbonne Paris Cité, 75006 Paris, France
2. Department of Molecular Genetics, Cochin Hospital, AP-HP, 75006 Paris, France
Interests: neurofibromatosis; cancer; molecular genetics; NGS; RAS-MAPK pathway
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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


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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
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

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Section Board Member
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: human genetics; exome/genome sequencing; regulatory regions; eye development; ocular disorders

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Department of Life Sciences, University of Siena, 53100 Siena, Italy
Interests: actions of polyphenol natural compounds on mammalian cardiovascular system; mechanisms of cell resistance to chemotherapeutic agents

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Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel
Interests: carrier frequency; gene therapy; human genetics; inherited retinal diseases; photoreceptors; population genetics

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Section Board Member
National Eye Institute, National Institutes of Health, Bethesda, MA 20892, USA
Interests: ocular gene therapy, animal and human; ocular disease; therapeutics for ocular disease; therapeutics for inherited retinal dystrophies (IRD); inherited retinal dystrophies (IRD) clinical characterization

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Section Board Member
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Interests: genomics of development and disease; gene regulation; chromatin organization; metazoan genome architecture and evolution

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1. Health Sciences Department, University of Florence, Piazza San Marco 4, 50121 Florence, Italy
2. Meyer Children’s Hospital IRCCS, Viale Pieraccini 24, 50139 Florence, Italy
Interests: endocrinology; auxology; genetic syndromes; autoimmune diseases
Special Issues, Collections and Topics in MDPI journals

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Section Board Member
SAFU Unit, Department of Research, Diagnosis and Innovative Technologies, IRCCS Regina Elena National Cancer Institute, 00144 Rome, Italy
Interests: hippo tumor suppressor pathway; cancer chemoprevention; metformin; melatonin; natural anticancer agents; noncoding RNA factors
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