International Journal of Neonatal Screening — Journal Editorial Boards

Editors

Dr. Ralph Fingerhut
Editor-in-Chief
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
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Interests: analytical assurance; inherited metabolic diseases; genomics; Laboratory information systems; galactosemia; SCID; LSDs cystic fibrosis; next generation sequencing in NBS
Special Issues and Collections in MDPI journals

Advisory Board

em. Prof. Dr. Adelbert A. Roscher
Lindwurmstr. 4 80337 München Bayern Germany
E-Mail
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
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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. Victor R. De Jesus
Newborn Screening and Molecular Biology Branch US Centers for Disease Control and Prevention, USA
E-Mail
Interests: quality assurance; mass spectrometry; newborn screening; dried blood spot technologies
Dr. W. Harry Hannon
Independent Consultant on Newborn Screening, 4929 Duncans Lake Point, Buford, GA 30519, USA
E-Mail
Dr. Bradford L. Therrell
Nat. Newborn Screening Global Research Center 3907 Galaxia Drive Austin, TX 78759, USA
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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.
E-Mail
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
E-Mail

Editorial Board

Dr. Burlina Alberto
Director, Division of Inborn Errors of Metabolism, North East Italy Newborn Screening Center, University-Hospital of Padova, Italy
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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
E-Mail
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
E-Mail
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
E-Mail
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
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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
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
E-Mail
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. Mária Knapková *
Children´s University Hospital, Banska Bystrica, Slovakia: Newborn Screening Centre Slovak Republic, Laboratory Manager, Slovakia
Website | E-Mail
Interests: cystic fibrosis; CH; PKU; CAH; fatty acid oxidation defects; carnitine deficiency
* Region Europe
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
E-Mail
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
Dr. Fred Lorey *
Former Director, CA Newborn Screening Program; HHS Advisory Committee on Heritable Disorders; Advisory board for Save Babies through Screening and Human Longevity, Inc., Pleasant Hill, CA, USA
E-Mail
Interests: SCID; hemoglobinopathies; metabolic disorders; endocrine disorders; program development; bio banking; assistance to developing countries in setting up/expanding NBS; biological anthropology; genetic epidemiology
* Region North America
Prof. Edwin Naylor
Consultant in newborn screening & biochemical and molecular genetics; Department of Pediatrics (Genetics), Medical University of South Carolina, CA, USA
E-Mail
Interests: newborn screening for Duchenne and congenital muscularč dystrophy including DNA confirmation using targeted NGS; Prenatal and newborn screening for lead and other heavy metals (Inductively Coupled Plasma-Mass Spectrometry); use of tandem mass spectrometry for newborn screening; development of 2nd-tier DNA confirmation for primary newborn screening
Dr. James Pitt
Metabolic and Newborn Screening Laboratories, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia
Website | E-Mail
Interests: inborn errors of metabolism; newborn screening; mass spectrometry; metabolomics
Prof. Dr. Amal Saadallah *
Newborn Screening and Biochemical Genetics Laboratory (NLNBS), King Faisal Specialist Hospital & Research Center, MBC-03-30, Riyad 11211, Saudi Arabia
E-Mail
* Region Middle East & North Africa
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