Section Editors

Section Board for 'Human Genomics and Genetic Diseases' (107)

Please see the section webpage for more information on this section.

Prof. Dr. Roel Ophoff
Section Editor-in-Chief
UCLA Center for Neurobehavioral Genetics, UCLA, 760 Westwood Plaza Los Angeles, CA 90095, USA
Interests: genetics of schizophrenia and amyotrophic lateral sclerosis (ALS)
Prof. Dr. Selvarangan Ponnazhagan
Section Editor-in-Chief
Experimental Cancer Therapeutics, The University of Alabama at Birmingham, 1825 University Blvd., SHEL 814 Birmingham, AL 35294-2182, USA
Interests: adeno-associated virus (AAV)-mediated gene therapy for cancer; AAV-mediated gene therapy for metabolic diseases; development of targeted-AAV for human gene therapy; biology, life cycle and molecular virology of adeno-associated virus
Special Issues and Collections in MDPI journals:
Special Issue in Genes: Genes at Ten
Dr. Nora L. Nock
Associate Editor-in-Chief
Division of Genetic and Molecular Epidemiology, Department of Epidemiology and Biostatistics, Case Western Reserve University, 2103 Cornell Road, Cleveland OH 44106-7281, USA
Interests: genetic and molecular epidemiology; multivariate modeling; biochemical pathway modeling; gene expression; carcinogenesis; metabolic disorders
Special Issues and Collections in MDPI journals:
Special Issue in Genes: Cancer Genetics
Prof. Dr. Francois Spitz
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
Prof. Dr. Harold Snieder
Unit of Genetic Epidemiology & Bioinformatics, Department of Epidemiology – FA40, University Medical Center Groningen, University of Groningen, Hanzeplein 1 (9713 GZ), PO Box 30.001, 9700 RB Groningen, The Netherlands
Interests: genetic epidemiology; cardiometabolic and renal disease (obesity, type 2 diabetes, hypertension, chronic kidney disease)
Prof. Dr. Benjamin Meder
Institute for Cardiomyopathies, Heidelberg, Heidelberg University Hospital, Im Neuenheimer Feld 410, 69120 Heidelberg, Germany
Interests: genomics; cardiomypathies; digital health; artificial intelligence; gene therapies
Prof. Dr. Stephen Robertson
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand
Interests: clinical Genetics; congenital malformations; neurogenesis; skeletal dysplasias
Prof. Dr. Salvador F. Aliño

Department of Pharmacology, University of Valencia, 46010-Valencia, Spain
Interests: Pharmacogenetic; nonviral; vectors; gene transfer; gene therapy; antisense therapy; therapeutic oligonucleotides
Dr. Thomas Liehr
Institute of Human Genetics, Friedrich Schiller University Jena, Jena, 07747, Germany
Interests: Chromosomics; small supernumerary marker chromosomes; chromosomal evolution; heteromorphisms; molecular cytogenetics
Prof. Dr. Katsushi Tokunaga
Genome Medical Science Project, National Center for Global Health and Medicine,Tokyo, 162-8655, Japan
Interests: genome medicine; multifactorial disease; human leucocyte antigen; infectious disease; autoimmune disease
Dr. Gael Roue
Experimental and Clinical Hematology Program, Josep Carreras Leukaemia Research Institute, Badalona, 08916, Spain
Interests: B-cell non-Hodgkin lymphoma; tumor modeling; tumor microenvironment; protein homeostasis; targeted therapy; epigenetic drugs
Prof. Dr. Rodney Scott
School of Biomedical Sciences, Faculty of Health and Medicine, University of Newcastle, Newcastle, NSW 2308, Australia
Interests: inherited predispositions to cancer; epigenetics and cancer
Dr. Anne E. Kwitek
Department of Physiology, Medical College of Wisconsin, Milwaukee WI 53226, USA
Interests: complex disease genetics; genetic mapping; genomics; systems genetics; rodent models of cardiometabolic disease; model organism databases
Prof. Dr. Elena Semina
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: human genetics; exome/genome sequencing; regulatory regions; eye development; ocular disorders
Prof. Dr. Michele Rubini
Department of Biomedical and Specialty Surgery Sciences , University of Ferrara, Ferrara, 44121, Italy
Interests: pharmacogenetics of Rheumatoid Arthritis; genetics of Covid-19; genetics and epigenetics of Cleft lip and palate; epigenetics of Spontaneous Miscarriage; personalized medicine; gender medicine
Prof. Dr. Domenico Lio
Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Palermo, I90135, Italy
Interests: Immunogenetics; ageing associated disease; genetic predictive markers in multifactorial diseases; genetic predictive markers in infectious diseases; immunogenetics of Down's Syndrome
Dr. Sudheer Kumar Gara
Thoracic Surgery Branch, National Cancer Institute, National Institutes of Health, Bethesda,MD 20891, USA
Interests: lung cancer; induced pluripotent stem cells; genomics; epigenetics; cancer stem cells and oncology
Prof. Dr. Julio Escribano
Website SciProfiles
Genetics, Castilla-La Mancha University, 02006-Albacete, Spain
Interests: ophthalmogenetics; inherited ocular diseases; congenital glaucoma; corneal dystrophy; zebrafish; CRISPR/Cas9
Dr. Joris Deelen
Max Planck Institute for Biology of Ageing, Cologne, Germany
Interests: longevity; healthy ageing; genetic epidemiology; functional genomics; biomarkers
Dr. Shuji Mizumoto
Department of Pharmacology, Meijo University, Nagoya, Japan
Interests: proteoglycan; glycosaminoglycan; chondroitin sulfate; dermatan sulfate; heparan sulfate; Ehlers–Danlos syndrome; spondyloepimetaphyseal dysplasia
Dr. Hyejung Won
Department of Genetics and Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA
Interests: chromosome conformation; psychiatric disorders; genetics; functional genomics; Hi-C
Dr. Geneviève Bernard
Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montréal, QC H3A 0G4, Canada
Interests: leukodystrophies; movement disorders; neurogenetics; hypomyelination; pediatric neurodegenerative diseases
Prof. Dr. Susan M. Downes
Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, UK
Interests: Medical Retina; Inherited Retinal Dystrophies/Degeneration; Age related macular degeneration; rare disorders of the retina; retinal telangiectasia; von Hippel Lindau
Dr. Marika Kaakinen
School of Biosciences and Medicine, Department of Clinical and Experimental Medicine, University of Surrey, Guildford, GU2 7XH, UK
Interests: genome-wide association studies (GWAS); multi-trait GWAS; multi-omics; statistical genetics
Dr. Eric Pasmant
INSERM U1016, Cochin Institute, CARPEM, Paris Descartes University, Sorbonne Paris Cité, Paris, France.
Department of Molecular Genetics, Cochin Hospital, AP-HP, Paris, France
Interests: neurofibromatosis; cancer; molecular genetics; NGS; RAS-MAPK pathway
Special Issues and Collections in MDPI journals:
Prof. Dr. Laura Marie Thornton
Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7160, USA
Interests: eating disorders; genetics; pediatric obesity; comorbidity; anorexia nervosa; bulimia nervosa; binge-eating disorder
Dr. Amy Jayne McKnight
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen’s University of Belfast, Belfast BT7 1NN, UK
Interests: kidney; methylation; ageing; rare disease; GWAS; EWAS
Dr. David A. Simpson
The Wellcome – Wolfson Institute for Experimental Medicine, School of Medicine, Dentistry and Biomedical Sciences, Queen’s University Belfast, 97 Lisburn Road, Belfast BT9 7BL, UK
Interests: Next-generation sequencing; single-cell RNA sequencing (scRNA-Seq); bioinformatics; genomics; transcriptomics; gene expression; microRNAs; Ophthalmic disease
Prof. Dr. Alessandro Iannaccone
Duke Eye Center, Duke University School of Medicine, 2351 Erwin Road, DUMC Box 3802, Durham, NC 27710, USA
Interests: Inherited retinal diseases; Retinitis pigmentosa; Bardet-Biedl syndrome; Usher syndrome; Choroideremia; Stargardt disease; Macular dystrophies; Retinal Degenerations; Ophthalmic genetics; Visual electrophysiology; Visual psychophysics; Retinal imaging
Dr. Guido J. Falcone
Department of Neurology, Yale School of Medicine, New Haven, CT 06520, USA
Interests: human genomics; genomic medicine; population genetics; stroke; cerebrovascular disease
Prof. Dr. Jan Kammenga
Laboratory of Nematology, Wageningen University & Research, Droevendaalsesteeg 1., 6708 PB, Wageningen, The Netherlands
Interests: quantitative genetics; (e)QTL; genetic variation; C. elegans
Dr. Elena Bosch
IBE, Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB, C/Doctor Aiguader 88, 08003 Barcelona, Spain
Interests: human evolution; population genetics; natural selection; human adaptation
Prof. Dr. Peter Devilee
Department of Human Genetics / Department of Pathology, Leiden University Medical Centre, P.O. Box 9600, S4-P, 2300 RC Leiden, The Netherlands
Interests: genetic mapping; human genetics; medical genetics; personal medicine; population genetics; sequencing technologies; predisposition to cancer; familial breast cancer; BRCA1, BRCA2
Dr. Aliza P. Wingo
Department of Psychiatry, Emory University School of Medicine, 201 Dowman Dr, Atlanta, GA 30322, USA
Interests: genetics; transcriptomics; microRNAs; proteomics; depression; Alzheimer's disease dementia; resilience; psychological well-being
Dr. Karen Grønskov
Rigshospitalet, Clinical Genetic Department, Kennedy Center, Gl. Landevej 7, 2600 Glostrup, Denmark
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
Dr. Laura Crisponi
Institute for Genetics and Biomedical Research (IRGB), National Research Council, (CNR), c/o Cittadella Universitaria di Monserrato, S.S. 554 bivio per Sestu km 4,500 – 09042 Monserrato (CA), Italy
Interests: human genetics; medical genetics; whole-exome sequencing; rare diseases; gene discovery
Dr. Xenia Gonda
Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary
Interests: psychiatric genetics; population genetics; genotyping; personality genetics; genetics of depression
Special Issues and Collections in MDPI journals:
Prof. Dr. Claude Ferec
UMR 1078 "Genetics, Functional Genomics and Biotechnologies" INSERM, University of Western Brittany, French Blood Bank, Brest Hospital, France
Interests: genetics of cystic fibrosis; genetics of pancreatitits and pancreatic diseases; genetics of autosomal dominant polycystic kidney disease (ADPKD); genetics of haemochromatosis; genetics of intellectual disability; genetics of hip dysplasia
Special Issues and Collections in MDPI journals:
Dr. Arthur Berg
Department of Public Health Sciences, Division of Biostatistics & Bioinformatics, Penn State College of Medicine, Hershey, PA 17033, USA
Interests: statistical genetics; Bayesian statistics; nonparametric statistics; health informatics
Special Issues and Collections in MDPI journals:
Prof. Dr. Laura Sánchez
Department of Genetics, University of Santiago de Compostela, Spain
Interests: zebrafish; Danio rerio; animal models for human disease; xenograft of tumor cells; toxicity
Special Issues and Collections in MDPI journals:
Prof. Dr. Dragan Primorac
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, Zabok 49210, Croatia
Interests: personalised medicine; stem cells; pharmacogenetics; paediatrics; DNA analysis; human diseases; bone diseases; forensic genetics; population genetics
Special Issues and Collections in MDPI journals:
Dr. Rena N. D'Souza
Neurobiology & Anatomy, Pathology, Surgery, University of Utah, Salt Lake City, UT 84112, USA
Interests: human genetics and genomics; mouse genetic models of human diseases; developmental Biology; bone and cartilage matrix biology; craniofacial morphogenesis; tooth development; palate development
Dr. Lizhong Wang
Department of Genetics, UAB School of Medicine, Kaul 740A, 720 20th Street South, Birmingham, AL 35294, USA
Interests: genetics; cancer; X-inactivation; mutation
Prof. Dr. Mariarosa Anna Beatrice Melone
1. Department of Medical and Surgical Advanced Sciences Second Division of Neurology , Center for Rare Neurological and Neuromuscular Diseases & Inter University Center for Research in Neurosciences, University of Campania Luigi Vanvitelli , Naples , Italy
2. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA
Interests: genetics of rare neurologic and neuromuscular diseases; translational neurogenetics; clinical & molecular neurogenetics; applied stem cell biology; systems neuroscience; neuropathology and experimental neurobiology; nanotechnology in nutraceuticals and functional fods; roles of autophagy in neurodegenerative diseases; clinical neurology of adults and children
Special Issues and Collections in MDPI journals:
Prof. Dr. Corrado Angelini
Website SciProfiles
Fondazione Ospedale San Camillo - I.R.C.C.S., Via Alberoni, 70 - 30126 Venezia-Lido, Italy
Interests: microRNAs; muscle atrophy; myotonic dystrophy; amyotrophic lateral sclerosis; gene expression; lipid metabolism
Special Issues and Collections in MDPI journals:
Prof. Dr. Gil Atzmon
Department of Biology, Faculty of Natural Sciences University of Haifa Mount Carmel, Haifa 31905, Israel
Interests: longevity; genomic; epigenomic; genetic; epigenetic; healthy aging; healthy lifespan; diabetes
Special Issues and Collections in MDPI journals:
Dr. Olaf Bodamer
MD PhD FACMG FAAP, Associate Professor of Pediatrics, Park Gerald Chair of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Interests: Kabuki syndrome; lysosomal storage disorders; personalized medicine; newborn screening
Special Issues and Collections in MDPI journals:
Dr. Carolina Bonilla

Departamento de Medicina Preventiva, Faculdade de Medicina, Universidade de São Paulo, Brazil
Interests: genetic epidemiology; mendelian randomization; cancer; pigmentation; admixture; population genetics; mitochondrial DNA; Latin America
Special Issues and Collections in MDPI journals:
Prof. Dr. Frank Buchholz
Medical Systems Biology UCC Medical Faculty and University Hospital Carl Gustav Carus, Am Tatzberg 47/49, 01307 Dresden, Germany
Interests: cancer stem cells; functional genomics; systems biology; RNAi screens
Dr. Isabella Ceccherini
U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy
Interests: neurocristopathies; autoinflammatory disorders; pediatric stroke; protein aggregation and disease; somatic and germline mosaicism; NGS based diagnostic approaches
Dr. Jian-Min Chen
Directeur de Recherche Institut National de la Santé et de la Recherche Médicale (INSERM) U1078 and EFS, Université de Bretagne Occidentale (UBO), Brest, France
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Prof. Dr. Marina Colombi
Website1 Website2
Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical School, University of Brescia, Viale Europa 1, 25123 Brescia, Italy
Interests: Heritable connective tissue disorders; Ehlers-Danlos syndrome; arterial tortuosity syndrome; Loeys-Dietz syndrome; Cutis Laxa; collagen genes; extracellular matrix; fibronectin; integrins
Special Issues and Collections in MDPI journals:
Dr. Serena Dato
Dept. Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy
Interests: genetic component of human longevity; aging and age-related traits; association studies; common variants; human lifespan; healthy aging; late life survival; nonagenarian sampling; genetic epidemiology; genetic data analysis
Special Issues and Collections in MDPI journals:
Prof. Dr. Elfride De Baere
Center for Medical Genetics Ghent (CMGG), Ghent University and Ghent University Hospital, Ghent, Belgium
Interests: human genetics and genomics; ophthalmic genetics; developmental genetics; gene regulation; functional genomics
Prof. Dr. Fulvio della Ragione
Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy
Interests: genetical and biochemical mechanisms of congenital hematological diseases, polycythaemias; altered hypoxia response
Special Issues and Collections in MDPI journals:
Dr. Xingming Deng
Division of Cancer Biology, Department of Radiation Oncology, Emory University School of Medicine, Winship Cancer Institute of Emory University, Atlanta, GA 30322, USA
Interests: apoptosis; Bcl2 family; small molecule anticancer discovery; DNA damage and repair; DNA replication stress; carcinogenesis; cancer therapy
Prof. Dr. Allison D. Ebert
Department of Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Interests: stem cells; disease modeling; spinal muscular atrophy; amyotrophic lateral sclerosis; Parkinson’s disease; muscular dystrophy
Special Issues and Collections in MDPI journals:
Prof. Dr. Anja Ehrhardt
Witten/Herdecke University, Witten, Germany
Interests: virology; molecular medicine; gene therapy; adenovirus; infectious diseases; genome engineering; liver diseases; hemophilia; Sleeping Beauty transposase
Prof. Dr. Sarah H. Elsea
Department of Molecular and Human Genetics, Baylor College of Medicine Houston, TX, USA
Interests: neurometabolic disorders; neurodevelopmental disorders; genotype:phenotype correlation; metabolomics; circadian rhythm; obesity; oxidative stress
Prof. Dr. Jeanette Erdmann
Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany
Interests: cardiovascular genetics; genome-wide association studies (GWAS); functional genetics; complex disorders; atherosclerosis; inflammatory co-morbidities
Prof. Dr. med. Dr. Judith Fischer
Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany
Interests: genodermatoses; keratinization disorders; ichthyoses; psoriasis; NGS; genotyping; association studies; whole exome sequencing
Prof. Dr. Antonia Follenzi
Website SciProfiles
Department of Health Sciences, University “Amedeo Avogadro” of East Piedmont, Novara, Italy
Interests: gene and cell therapy; hemophilia; regenerative medicine; lentiviral vectors; gene transfer; endothelial cells; liver biology; transcriptional regulation
Dr. Brunella Franco
Telethon Institute of Genetics and Medicine (TIGEM), and Medical Genetics Service, Department Translational Medicine, Federico II University Naples, Naples, Italy
Interests: ciliopathies; cilia biology; mitochondrial disorders; X-chromosome; miRNA and diseases; OFD syndromes; renal cystic disease
Dr. Terrence S. Furey
Departments of Genetics and Biology, University of North Carolina, Chapel Hill, NC 27599, USA
Interests: epigenomics; gene regulation; chromatin biology; high-throughput sequencing; toxicogenomics; inflammatory bowel diseases
Prof. Dr. Donato Gemmati
Department of Biomedical & Specialty Surgical Sciences and Centre Haemostasis & Thrombosis, Section of Medical Biochemistry, Molecular Biology & Genetics, University of Ferrara, corso Giovecca 203, 44121, Ferrara, Italy
Interests: pharmacogenetics/genomics, precision medicine and gender medicine in inherited thrombophilia and cardiovascular disease; coagulation; iron homeostasis and folate pathways; genetics of wound healing; childhood haematological malignancies
Special Issues and Collections in MDPI journals:
Prof. Dr. Daniel H. Geschwind
grade Website
Program in Neurogenetics, Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
Interests: precision health; genomic medicine; neurodevelopmental disorders; systems biology; integrative genomics; neurodegenerative diseases
Dr. Domingo González-Lamuño
Website SciProfiles
Department of Pediatrics. University Hospital “Marqués de Valdecilla”- University of Cantabria. Instituto de Investigación Valdecilla (IDIVAL). Avenida Cardenal Herrera Oria s/n, 39011 Santander (CANTABRIA), Spain
Interests: inborn errors of metabolism; human (pediatric) genetics and genomics; developmental genetics; rare diseases; pediatric nephrology
Prof. Dr. Stephen Hart
UCL, Great Ormond Street Institute of Child Health, London, UK
Interests: gene therapy; mRNA therapy; siRNA therapy; gene editing; CRISPR; non-viral; nanoparticles; delivery; cystic fibrosis
Dr. Mark C. Hirst
The Open University, Milton Keynes, UK
Interests: triplet repeat expansion; fragile X syndrome; Huntington's disease; DNA repair; genome variation
Special Issues and Collections in MDPI journals:
Special Issue in Genes: Fragile X Syndrome
Prof. Dr. Juan Carlos Izpisua Belmonte
grade Website
Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA 92037, USA
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
Dr. Yalda Jamshidi
Molecular and Clinical Sciences Institute, St George’s University of London, London, UK
Interests: cardiovascular genetics; genome-wide association studies (GWAS); functional genomics; complex disorders; disease gene discovery; musculoskeletal disease; neurodevelopmental disorders
Prof. Dr. Toyomasa Katagiri
Division of Genome Medicine, Institute for Genome Research, The University of Tokushima, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan
Interests: breast cancer; microarrays; gene expression analysis; carcinogenesis; molecular-targeted cancer therapy; estrogen-receptor-regulation
Prof. Dr. Manfred Kayser
Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, The Netherlands
Interests: forensic genetics; forensic molecular biology; forensic epigenetics; forensic microbiome analysis; forensic DNA phenotyping; forensic Y-chromosome analysis; forensic tissue identification; genetic ancestry inference; genetic appearance prediction
Special Issues and Collections in MDPI journals:
Special Issue in Genes: Forensic Genomics
Prof. Dr. Alwin Krämer
Clinical Cooperation Unit Molecular Hematology/Oncology, German Cancer Research Center (DKFZ) and Department of Internal Medicine University of Heidelberg, Germany
Interests: chromosomal instability; carcinoma of unknown primary (CUP) syndrome; acute myeloid leukemia
Dr. Roland P. Kuiper
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands
Interests: childhood cancer; Leukemia genetics; cancer genomics; genetic predisposition; DNA repair disorders
Prof. Dr. Wolfram S. Kunz
University Bonn, Bonn, Germany
Interests: mitochondrial DNA; somatic mutations in mtDNA; mitochondrial diseases; genetic epilepsies
Prof. Dr. Lars Allan Larsen
Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, DK-2200, Denmark
Interests: medical genetics; molecular genetics; genomics; mechanisms of embryonic development; congenital heart disease; cardiac development
Special Issues and Collections in MDPI journals:
Dr. Conxi Lazaro
Coordinator of the Molecular Diagnostics Unit Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL), Barcelona, Spain
Interests: genetic testing; hereditary cancer; NGS; neurofibromatosis; VUS interpretation
Prof. Dr. Hans Lehrach
Max Planck Institute for Molecular Genetics (MPI-MG), Department Vertebrate Genomics, Ihnestr. 63-73, D-14195 Berlin, Germany
Interests: genome research; tumor systems biology; technology development
Prof. Dr. Bryan Mowry
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, Queensland 4076, Australia
Interests: molecular genetics of schizophrenia and other psychiatric disorders; statistical genetics; functional genomics; gene expression
Special Issues and Collections in MDPI journals:
Prof. Dr. Giovanni Neri

1. Catholic University School of Medicine, Rome, Italy.
2. Greenwood Genetic Center in Greenwood, SC, USA
Interests: intellectual disability; malformation syndromes; fragile X syndrome; X-linked intellectual disability
Special Issues and Collections in MDPI journals:
Prof. Dr. Vincenzo Nigro
Dipartimento di Medicina di Precisione, Università degli Studi della Campania "Luigi Vanvitelli,", Naples, Italy
Interests: undiagnosed diseases; muscular dystrophies; human genomics
Dr. Dale R. Nyholt
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
Prof. Dr. Walther Parson
Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria
Interests: forensic genetics; short tandem repeat (STR); markers; DNA analysis
Special Issues and Collections in MDPI journals:
Special Issue in Genes: Forensic Genomics
Prof. Dr. Rosario Perona
Instituto de Investigaciones Biomédicas CSIC/UAM, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain
Interests: telomere-base diseases; bone marrow failure; pulmonary fibrosis
Prof. Dr. Mihaela Pertea
Center for Computational Biology, McKusick-Nathans Institute of Genetic Medicine,Johns Hopkins University School of Medicine, Baltimore, MD, USA
Interests: computational biology, transcriptome reconstruction, gene finding, next generation sequence analysis
Prof. Dr. Gudrun Rappold
Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany
Interests: molecular basis and mouse models of neurodevelopmental disorders; intellectual disability; autism; Homeobox genes in growth and development; transcription factors; iPS cells; genome editing; molecular variability in phenotype; gene regulation by enhancers
Prof. Dr. Alexandre Reymond
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
Interests: human genetics; genomics; structural variants
Dr. Santiago Rodriguez
MRC Integrative Epidemiology Unit,School of Social and Community Medicine, University of Bristol, Oakfield House, Oakfield Grove Bristol BS8 2BN, UK
Interests: human genetics; genetic epidemiology; population genetics; molecular genetics; complex genetic loci; complex human traits
Special Issues and Collections in MDPI journals:
Prof. Dr. Giuseppina Rose
Dept. Biology, Ecology and Earth Sciences, University of Calabria, 87036 Rende, Italy
Interests: genetic component of human longevity; mitochondrial genetics; mitochondrial aging; aging and age-related traits; association studies; human lifespan; healthy aging; genetic variability; genetic epidemiology
Special Issues and Collections in MDPI journals:
Prof. Dr. Axel Schambach
Institute of Experimental Hematology, Hannover Medical School, 30625 Hannover, Germany; Division of Hematology/Oncology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA
Interests: gene therapy; vector design; CARs; TRUCKs; hematology; stem cells; leukemia; iPSC; ovarian carcinoma
Special Issues and Collections in MDPI journals:
Prof. Dr. Eileen M. Shore
Perelman School of Medicine at the University of Pennsylvania, Department of Orthopedic Surgery and Department of Genetics, Philadelphia, PA, USA
Interests: osteogenesis; chondrogenesis; rare bone disease; musculoskeletal biology; heterotopic ossification; fibrodysplasia ossificans progressiva (FOP); progressive osseous heteroplasia (POH); BMP signaling; GNAS
Dr. Paul A. Sieving
Website1 Website2
National Eye Institute, National Institutes of Health, Bethesda, MA, 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
Prof.Dr. Rainer Spanagel
Institute of Psychopharmacology, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
Interests: transgenic animals; gene expression profiling; behavioural genetics; psychiatric genetics; genetics in addiction research; convergent genomics
Dr. Jordi Surralles
Director, Genetics Deparment, Sant Pau Hospital, Barcelona
Interests: DNA repair and hereditary cancer syndromes in health, disease, diagnostics, genetics and therapy; familiar cancer; BRCA; Fanconi anemia; gene discovery
Prof. Dr. Nelson Tang
Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China
Interests: complex trait; genetic predisposition; population genetics; gene regulations; gene transcription
Prof. Dr. Amalio Telenti
Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA, USA
Interests: non-coding genome; regulatory genome; whole genome sequencing; host-pathogen genomics
Prof. Dr. Zeynep Tümer

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Interests: Identification of genetic/epigenetic mechanism involved in monogenic and complex neurodevelopmental disorders and other rare genetic disorders; syndromic and non-syndromic intellectual disabilities; Tourette syndrome; imprinting disorders; Rett-syndrome and related disorders; Cornelia de Lange syndrome; cohesin deficiency disorders
Prof. Dr. Paul Valdmanis
University of Washington, Department of Medicine, Seattle, WA, USA
Interests: amyotrophic lateral sclerosis; neurodegeneration; human genetics; microRNAs; noncoding RNAs; RNA sequencing; gene therapy; gene regulation
Prof. Dr. Cornelia M. Van Duijn
Population Health Department, University of Oxford, Oxford, UK
Interests: Alzheimer\'s disease; endocrinologic epidemiology; genetic epidemiology; sex hormones; thyroid hormones; Parkinson\'s disease; pediatric epidemiology; osteoporosis; osteoarthrosis
Prof. Dr. Joris Veltman
Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK
Interests: genomics; disease gene discovery; male infertility; structural genomic variation; translational genomics
Prof. Dr. Joris Vermeesch
Center for Human Genetics, UZ Leuven, KU Leuven, Leuven, Belgium
Interests: preimplantation, prenatal and postnatal diagnosis; CGH; chromosomal instability; developmental, mental and behavioural disturbances
Prof. Dr. Robert Winqvist
Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Finland
Interests: hereditary predisposition to cancer; breast cancer; susceptibility genes; DNA damage response; molecular and biological mechanisms in cancer susceptibility; disease modelling
Prof. Dr. Seppo Ylä-Herttuala
A.I. Virtanen Institute, University of Eastern Finland, Kuopio, Finland
Interests: VEGFs; angiogenesis; gene therapy; vascular biology; atherosclerosis
Dr. Toshifumi Yokota
Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8812-112 St. Edmonton, AB T6G 2H7, Canada
Interests: neuromuscular disease; Duchenne/Becker muscular dystrophy; antisense therapy; animal models; spinal muscular atrophy; limb-girdle muscular dystrophy; Miyoshi myopathy
Special Issues and Collections in MDPI journals:
Prof. Dr. John Zaia
Center for Gene Therapy, Hematological Malignancy and Stem Cell Transplantation Institute, City of Hope, Duarte, CA, USA
Interests: HIV gene therapy treatments; CMV immunology; pediatric infectious diseases
Prof. Dr. Horst Zitzelsberger
Research Unit of Radiation Cytogenetics, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstr. 1, 85764 Neuherberg, Germany
Interests: cytogenetics; chromosome aberrations; cancer cytogenetics; molecular cytogenetics; radiation biology; thyroid cancer; radiation-induced carcinogenesis; positional cloning of chromosomal breakpoints
Special Issues and Collections in MDPI journals:
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