Editorial Board
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 (32)
SYNLAB MVZ Weiden GmbH, Newborn Screening, Zur Kesselschmiede 4, D-92637 Weiden, Germany
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals
Interests: neonatal screening; process quality; knowledge scharing and education; new technologies in NBS; new applications in NBS; multiparameter analysis
Special Issues, Collections and Topics in MDPI journals
Office of the International Society for Neonatal Screening, Reigerskamp 273, 3607 HP Maarssen, The Netherlands
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals
Interests: (neonatal screening in) Europe; (neonatal screening and) the Wilson and Jungner criteria; lysosomal storage diseases; application of next generation sequencing in neonatal screening; inherited errors of metabolism; tandem mass spectrometry; genomics; artificial intelligence in neonatal screening; cystic fibrosis; screening policies and governance; quality assurance
Special Issues, Collections and Topics in MDPI journals
1. Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
2. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals
2. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
Interests: PKU; galactosemia; fatty acid oxidation defects; cobalamin disorders; homocystinuria; MPS II; LAL deficiency and organic acidopathies
Special Issues, Collections and Topics in MDPI journals
Duke University Hospital Biochemical Genetics Lab, Durham, NC 27709, USA
Interests: tandem mass spectrometry; liquid chromatography-mass spectrometry; lysosomal storage disease biomarkers; digital microfluidic fluorometry; acylcarnitines; second-tier biochemical testing
Special Issues, Collections and Topics in MDPI journals
Interests: tandem mass spectrometry; liquid chromatography-mass spectrometry; lysosomal storage disease biomarkers; digital microfluidic fluorometry; acylcarnitines; second-tier biochemical testing
Special Issues, Collections and Topics in MDPI journals
National Newborn Metabolic Screening programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand; Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues, Collections and Topics in MDPI journals
Interests: newborn screening (programme audit, metrics, policy, definitions, guidelines, quality)
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Neil R. M. Buist
Advisory Board Member
Advisory Board Member
Professor Emeritus Pediatrics and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Harvard Medical School; Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
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, Collections and Topics in MDPI journals
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, Collections and Topics in MDPI journals
Dr. Enzo Ranieri
Advisory Board Member
Advisory Board Member
South Australian Neonatal Screening Centre, Directorate of Genetic and Molecular Pathology Women’s and Children’s Hospital Campus, Adelaide SA Pathology, South Australia, Australia
Nat. Newborn Screening Global Research Center 3907 Galaxia Drive Austin, TX 78759, USA
Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; international laboratory guidelines and standards for newborn screening
Interests: inborn errors of metabolism and hemoglobinopathies; laboratory certification; international laboratory guidelines and standards for newborn screening
Department of Pediatrics, UAE University, PO Box 17666, Al-Ain, United Arab Emirates
Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders
Interests: newborn screening; mass spectrometry; inborn errors of metabolism; organic acidemias; peroxisomal disorders
Department of Congenital Disorders, Statens Serum Institut, 2300 Copenhagen, Denmark
Interests: newborn screening; cystic fibrosis; SCID; spinal muscular atrophy
Interests: newborn screening; cystic fibrosis; SCID; spinal muscular atrophy
Department of Clinical Chemistry, Sheffield Children's NHS Foundation Trust, Sheffield S10 2TH, UK
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues, Collections and Topics in MDPI journals
Interests: quality assurance; inherited metabolic disorders; genomics; IT supporting patients; system governance
Special Issues, Collections and Topics in MDPI journals
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
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
Screening Center, Bavarian Health and Food Safety Authority, Veterinärstr. 2, 85764 Oberschleißheim, Germany
Interests: newborn hearing screening; neonatal screening; hearing disorder; epidemiology; tracking
Special Issues, Collections and Topics in MDPI journals
Interests: newborn hearing screening; neonatal screening; hearing disorder; epidemiology; tracking
Special Issues, Collections and Topics in MDPI journals
Division of Inborn Errors of Metabolism, North East Italy Newborn Screening Center, University-Hospital of Padova, Padova, Italy
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 therapies; NBS new programs for inborn errors of metabolism
Special Issues, Collections and Topics in MDPI journals
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 therapies; NBS new programs for inborn errors of metabolism
Special Issues, Collections and Topics in MDPI journals
1. Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA
2. Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Interests: lysosomal storage diseases; mucopolysaccharidoses; newborn screening
Special Issues, Collections and Topics in MDPI journals
2. Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
Interests: lysosomal storage diseases; mucopolysaccharidoses; newborn screening
Special Issues, Collections and Topics in MDPI journals
Division of Experimental Pediatrics & Metabolism University Children’s Hospital Heinrich Heine University Düsseldorf, Düsseldorf, Germany
Interests: newborn metabolic screening; metabolism; metabolite profiling; early origins of childhood obesity & associated metabolic disease; fetal metabolic programming; nutrient-sensing mechanisms; metabolic & nutritional medicine
Interests: newborn metabolic screening; metabolism; metabolite profiling; early origins of childhood obesity & associated metabolic disease; fetal metabolic programming; nutrient-sensing mechanisms; metabolic & nutritional medicine
Section of Clinical and Metabolic Genetics, Dell Children's Medical Group, 1301 Barbara Jordan Blvd Ste 200, Austin, TX 78723, USA
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
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
University Children’s Hospital, University Hospital Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, 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
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
Department of Clinical Immunology, Karolinska University Hospital Huddinge, SE-14186 Stockholm, Sweden
Interests: primary immunodeficiency; genetics; newborn screening
Special Issues, Collections and Topics in MDPI journals
Interests: primary immunodeficiency; genetics; newborn screening
Special Issues, Collections and Topics in MDPI journals
1. New Zealand Newborn Metabolic Screening Programme, LabPlus, Auckland District Health Board, Auckland, New Zealand
2. Starship Children's Hospital, Auckland District Health Board, Auckland 1023, New Zealand
3. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; public health outcomes
Special Issues, Collections and Topics in MDPI journals
2. Starship Children's Hospital, Auckland District Health Board, Auckland 1023, New Zealand
3. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; public health outcomes
Special Issues, Collections and Topics in MDPI journals
Department of Pediatric Hematology and Oncology, Gemeinschaftsklinikum Mittelrhein gGmbH, 56073 Koblenz, Germany
Interests: sickle cell disease; thalassemia; hemoglobinopathies; newborn screening; digital health interventions
Special Issues, Collections and Topics in MDPI journals
Interests: sickle cell disease; thalassemia; hemoglobinopathies; newborn screening; digital health interventions
Special Issues, Collections and Topics in MDPI journals
Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, US Centers for Disease Control and Prevention, 4770 Buford Highway, NE, Mail Stop F-19, Atlanta, GA 30341, USA
Interests: quality assurance; newborn screening; filter paper blood collection device
Special Issues, Collections and Topics in MDPI journals
Interests: quality assurance; newborn screening; filter paper blood collection device
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Edwin Naylor
Editorial Board Member
Editorial Board Member
Consultant in Newborn Screening & Biochemical and Molecular Genetics; Department of Pediatrics (Genetics), Medical University of South Carolina, Charleston, SC, USA
Interests: newborn screening for Duchenne and congenital muscular 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
Special Issues, Collections and Topics in MDPI journals
Interests: newborn screening for Duchenne and congenital muscular 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
Special Issues, Collections and Topics in MDPI journals
1. Department of Women’s and Children’s Health, Karolinska Institutet, S-171 76 Stockholm, Sweden
2. Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, S-171 76 Stockholm, Sweden
Interests: CAH; newborn screening; disorders of sex development
Special Issues, Collections and Topics in MDPI journals
2. Department of Paediatric Endocrinology, Astrid Lindgren Children Hospital, Karolinska University Hospital, S-171 76 Stockholm, Sweden
Interests: CAH; newborn screening; disorders of sex development
Special Issues, Collections and Topics in MDPI journals
Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201-2002, USA
Interests: newborn screening; lysosomal storage disorders; Krabbe disease; genetics
Special Issues, Collections and Topics in MDPI journals
Interests: newborn screening; lysosomal storage disorders; Krabbe disease; genetics
Special Issues, Collections and Topics in MDPI journals
Metabolic and Newborn Screening Laboratories, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia
Interests: inborn errors of metabolism; newborn screening; mass spectrometry; metabolomics
Interests: inborn errors of metabolism; newborn screening; mass spectrometry; metabolomics
Prof. Dr. Adelbert A. Roscher
Editorial Board Member
Editorial Board Member
Lindwurmstr. 4, 80337 München, Bayern, Germany
Prof. Dr. Amal Saadallah
*
Editorial Board Member
Editorial Board Member
Newborn Screening and Biochemical Genetics Laboratory (NLNBS), King Faisal Specialist Hospital & Research Center, MBC-03-30, Riyad 11211, Saudi Arabia
* Region Middle East & North Africa
* Region Middle East & North Africa
NC State Laboratory of Public Health, Division of Public Health, North Carolina Department of Health and Human Services, Raleigh, NC 27607, USA
Interests: newborn screening; clinical laboratory science; quality assurance; quality improvement; program evaluation; information management; technical assistance; policy development
Interests: newborn screening; clinical laboratory science; quality assurance; quality improvement; program evaluation; information management; technical assistance; policy development
