International Journal of Neonatal Screening — Journal Editorial Board

Editors (2)

Dr. Ralph Fingerhut
Swiss Newborn Screening Laboratory, Steinwiesstr. 75, CH-8032 Zurich, Switzerland
Website | E-Mail
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Dr. Peter C.J.I. Schielen
Associate Editor
Reference Laboratory for Neonatal Screening, Centre for Infectious Diseases Research, Diagnostics and Sceening-IDS, National Institute of Public Health and the Environment – RIVM, NL-3720 BA Bilthoven, The Netherlands
Special Issues and Collections in MDPI journals

Advisory Board (7)

Prof. Neil R. M. Buist, MD, DCH, FRCPE, LLD
Professor Emeritus Pediatrics and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Tel. +5037053089
Dr. W. Harry Hannon
Independent Consultant on Newborn Screening, 4929 Duncans Lake Point, Buford, GA 30519, USA
Prof. Dr. Harvey L. Levy
Professor of Pediatrics, Harvard Medical School; Division of Genetics and Genomics, Boston Children’s Hospital, 1 Autumn St., Boston, MA 02115, USA
Tel. +1-617-355-6346; Fax: +1-617-730-4856
Website | E-Mail
Interests: neonatal screening; inborn errors of metabolism; phenylketonuria; homocystinuria; galactosemia; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
Special Issues and Collections in MDPI journals:
Special Issue in International Journal of Neonatal Screening: Newborn Screening-Past, Present and Future
Dr. Enzo Ranieri
South Australian Neonatal Screening Centre, Directorate of Genetic and Molecular Pathology Women’s and Children’s Hospital Campus, Adelaide SA Pathology, South Australia, Australia
Tel. +61 8 8161 6739; Fax: +61 8 8161 7396
em. Prof. Dr. Adelbert A. Roscher
Lindwurmstr. 4 80337 München Bayern Germany
Tel. +49 160 9261 5812
Dr. Bradford L. Therrell
Nat. Newborn Screening Global Research Center 3907 Galaxia Drive Austin, TX 78759, USA
Website | E-Mail
Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; and international laboratory guidelines and standards for newborn screening
Prof. Dr. Bridget Wilcken, AM, MD, FRACP, FRCPA (hon)
Senior Staff Physician, Genetic Metabolic Service, Sydney Children’s Hospital Randwick; Honorary Consultant, NSW Biochemical Genetics and Newborn Screening Services, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Editorial Board Members (16)

Dr. Burlina Alberto
Director, Division of Inborn Errors of Metabolism, North East Italy Newborn Screening Center, University-Hospital of Padova, Italy
Website | E-Mail
Interests: clinical and biochemical characterisation of inborn errors of intermediary metabolism; clinical application of tandem mass spectrometry; neurotransmitters defects; metabolic diseases in adulthood; development of new therapiesa ; NBS new programs for for inborn errors of metabolism
Dr. Osama Aldirbashi, FCCMG, DABMGG
Department of Pediatrics, UAE University, PO Box 17666, Al-Ain, UAE
Tel. +971 3 7137 416; Fax: +971 3 7672 2022
Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders
Prof. Dr. Jim R. Bonham
Department of Clinical Chemistry, Sheffield Childrens NHS Foundation Trust, Sheffield, S10 2TH, UK
Interests: Quality assurance; Inherited metabolic disorders; Genomics; IT supporting patients; System governance
Dr. Gustavo JC Borrajo *
Detección de Errores Congénitos, Fundación Bioquímica Argentina, Calle 6 # 1344, 1900, La Plata, Argentina
Interests: newborn screening, with emphasis on analytical and quality assurance issues. PKU, CH, Cystic Fibrosis, Galactosemia, CAH, Biotinidase Deficiency, MSUD and Tandem Mass Spectrometry. Assistance to Latin American countries in setting up newborn screening activities
* Region Latin America
Prof. Dr. Regina Ensenauer
Division of Experimental Pediatrics & Metabolism University Children’s Hospital Heinrich Heine University Düsseldorf, Germany
Website | E-Mail
Interests: newborn metabolic screening, metabolism, metabolite profiling, early origins of childhood obesity & associated metabolic disease, fetal metabolic programming, nutrient-sensing mechanisms, metabolic & nutritional medicine
Dr. Can Ficicioglu
Perelman School of Medicine, University of Pennsylvania; Division of Human Genetics,Section of Metabolic disorders, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Website | E-Mail
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues and Collections in MDPI journals:
Special Issue in International Journal of Neonatal Screening: New Developments in Biomarkers and Therapies for Inborn Errors of Metabolism
Dr. James B. Gibson, MD
Section of Clinical and Metabolic Genetics, Dell Children's Medical Group, 1301 Barbara Jordan Blvd Ste 200, Austin, TX 78723, USA
Tel. 512 628-1840; Fax: 512 628-1891
Interests: Inborn errors of metabolism; Hypoglycemia; Long term and treatment-stratified outcomes of patients detected by newborn screening; Development of treatment options for potentially screenable disorders; Telemedicine delivery of genetic consultative and management services; Ethical and societal challenges in the expansion of screening programs
PD Dr. med. Gwendolyn Gramer
Medical Head of Newborn Screening, University Hospital Heidelberg; Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany
Interests: newborn screening; inborn errors of metabolism; endocrine disorders; cystic fibrosis; extension of newborn screening programmes; second-tier testing; vitamin B12 deficiency; long-term outcome of patients detected by newborn screening; screening for disease in ophthalmology; ophthalmological manifestations of metabolic disorders; glaucoma screening
Dr. Rasoul Alikhani Koupaei, DCC, FCACB, DABCC, FACB
Chief, Genetic Disease Laboratory Branch, CA Department of Public Health, 850 Marina Bay Parkway, G272 Richmond, CA 94804, USA
Dr. med. Stephan Lobitz
Amsterdam Street Children's Hospital Cologne, Department of Pediatric Oncology and Hematology, Amsterdamer Str. 59, 50735 Cologne, Germany
Website | E-Mail
Interests: sickle cell disease, thalassemia, hemoglobinopathies, newborn screening, digital health interventions
Special Issues and Collections in MDPI journals:
Special Issue in International Journal of Neonatal Screening: Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies
Back to Top