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
Newborn Screening and Metabolic Laboratory, Synlab MVZ Weiden, 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, Perelman School of Medicine, University of Pennsylvania, 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, Perelman School of Medicine, University of Pennsylvania, 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
Dr. Dianne Webster
Associate Editor
1. National Newborn Metabolic Screening Programme, LabPlus, Auckland City Hospital, Auckland 1148, New Zealand
2. 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
2. 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
Prof. Dr. Neil R. M. Buist
Advisory Board Member
Pediatrics and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA
Interests: newborn screening; inborn errors of metabolism
Interests: newborn screening; inborn errors of metabolism
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
Department of Newborn Screening, Sydney Children’s Hospital at Westmead, Westmead, NSW, Australia
Interests: metabolomics in newborn screening; cystic fibrosis; spinal muscular atrophy; high resolution mass spectrometry; next generation sequencing; advanced statistical procedures in data analysis; policies and governance of newborn screening programmes
Special Issues, Collections and Topics in MDPI journals
Interests: metabolomics in newborn screening; cystic fibrosis; spinal muscular atrophy; high resolution mass spectrometry; next generation sequencing; advanced statistical procedures in data analysis; policies and governance of newborn screening programmes
Special Issues, Collections and Topics in MDPI journals
Dr. Bradford L. Therrell
Advisory Board Member
1. Nat. Newborn Screening and Global Research Center, 3907 Galacia Drive, Austin, TX 78759, USA
2. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
Interests: newborn screening quality assurance; newborn screening in developing countries; hemoglobinopathies; laboratory certification; international newborn screening harmonization
2. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
Interests: newborn screening quality assurance; newborn screening in developing countries; hemoglobinopathies; laboratory certification; international newborn screening harmonization
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
Prof. Dr. Jim R. Bonham
Editorial Board Member
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
Dr. Gustavo J. C. Borrajo
Editorial Board Member
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
Prof. Dr. Barbara K. Burton
Editorial Board Member
1. Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA
2. Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
Interests: lysosomal storage diseases; mucopolysaccharidoses; newborn screening
Special Issues, Collections and Topics in MDPI journals
2. Feinberg School of Medicine, Northwestern University, 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
Dr. James B. Gibson
Editorial Board Member
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, Te Whatu Ora Te Toka Tumai Auckland, Auckland, New Zealand
2. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; quality improvements; screening outcomes
Special Issues, Collections and Topics in MDPI journals
2. Liggins Institute, University of Auckland, Auckland 1023, New Zealand
Interests: newborn screening; CAH; CH; quality improvements; screening 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
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. Amal Saadallah
Editorial Board Member
Newborn Screening and Biochemical Genetics Laboratory (NLNBS), King Faisal Specialist Hospital & Research Center, MBC-03-30, Riyad 11211, Saudi Arabia
Interests: newborn screening
* Region Middle East & North Africa
Interests: newborn screening
* Region Middle East & North Africa
Dr. Scott Shone
Editorial Board Member
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
1. Division of Genetics, Emeritus Chair of Department of Medical Genetics, Henry Ford Hospital, Detroit, MI, USA
2. Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago and Feinberg School of Medicine, Chicago, IL, USA
Interests: biotinidase deficiency; vitamin-responsive disorders; organic acidemias; inherited metabolic diseases; newborn screening; DNA confirmation of newborn screening
2. Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children’s Hospital of Chicago and Feinberg School of Medicine, Chicago, IL, USA
Interests: biotinidase deficiency; vitamin-responsive disorders; organic acidemias; inherited metabolic diseases; newborn screening; DNA confirmation of newborn screening
Dr. Raquel Yahyaoui
Editorial Board Member
Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Institute of Biomedical Research-IBIMA-Plataforma BIONAND, 29011 Málaga, Spain
Interests: inborn errors of metabolism; inherited metabolic disorders; biochemical genetics; newborn screening; tandem mass spectrometry; gene therapies
Special Issues, Collections and Topics in MDPI journals
Interests: inborn errors of metabolism; inherited metabolic disorders; biochemical genetics; newborn screening; tandem mass spectrometry; gene therapies
Special Issues, Collections and Topics in MDPI journals
