Reviewer Board (10)

Members of the reviewer board are selected from all IJNS reviewers for regularly providing timely high quality reports on submitted manuscripts. Responsibilities of reviewers are available here.

Dr. Maria Francisca Coutinho
Website
Department of Human Genetics, Research and Development Unit, National Health Institute Doutor Ricardo Jorge, Rua Alexandre Herculano, 321 4000-055 Porto, Portugal
Interests: lysosomal storage diseases; mucopolysaccharidoses; Sanfilippo syndrome; Mucolipidosis types II an III; molecular genetic testing; genotype-phenotype correlations; disease cellular models; RNA-based therapeutics; substrate reduction therapy(SRT); RNA interference (RNAi); siRNA nanodelivery systems
Dr. Yvonne A. Daniel
Website
1. Haematological Sciences, Viapath at Guy's & St Thomas' NHS Foundation Trust, London SE1 7EH, UK
2. Public Health England, NHS Sickle Cell and Thalassemia Screening Programme, London SE16LH, UK
Interests: all aspects of screening and diagnosis of haemoglobinopathies
Dr. Matthew Henderson
Website
Newborn Screening Ontario, University of Ottawa, 415 Smyth Road, Ottawa, ON K1H 8M8, Canada
Interests: biochemical genetics; Clinical Biochemistry; laboratory informatics; decsion support; newborn screening
Dr. Marleen Jansen
Website
Centre for Health Protection, National Institute for Public Health and the Environment, NL-3720 BA Bilthoven, The Netherlands
Interests: different approaches internationally to start, expand and improve neonatal screening programs
Dr. Denise M. Kay
Website
Newborn Screening Program, Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA
Interests: genetic diseases affecting infants and children; newborn screening; genetic epidemiology; expanded genetic analysis and next-generation sequencing in newborn screening; cystic fibrosis (CF); spinal muscular atrophy (SMA); genetics of congenital malformations
Dr. Chloe Miu Mak
Website
Newborn Screening Laboratory for Inborn Errors of Metabolism and Chemical Pathology Laboratory, Department of Pathology, Hong Kong Children's Hospital, Hong Kong, China
Interests: newborn screening; Genetics and Genomics; Inborn Errors of Metabolism; Chemical Pathology
Dr. Yana Sandlers
Website
Department of Chemistry, Cleveland State University, Cleveland, OH 44115, USA
Interests: Clinical Chemistry; mass spectrometry; high throughput; Amino acids; acylcarnitines; organic acids
Dr. Silvia Tortorelli
Website
Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Interests: Inborn Errors of Metabolism; peroxisomal and lysosomal disorders; reduction of false positive with second tier tests or novel biomarkers
Dr. Samantha A. Vergano
Website
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA
Interests: hyperammonemia in neonates; lysosomal storage diseases on NBS; psychosocial impact of positive/false positive screenings on caregivers
Prof. Dr. Seiji Yamaguchi
Department of Pediatrics, Shimane University School of Medicine, 89-1 En-ya-cho, Izumo Shimane 693-8501 Japan
Interests: screening for organic acidemias and fatty acid oxidation defects; expanded newborn screening; new treatment option of bezafibrate for fatty acid; molecular study on fatty acid oxidation defects oxidation defects
Back to TopTop