Use of Molecular Genetic Analyses in Danish Routine Newborn Screening
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D. Hougaard | B. Andresen | M. Bækvad-Hansen | N. Gregersen | M. Duno | F. Wibrand | A. Lund | K. Skogstrand | R. Olsen | Marie Bækvad-Hansen
[1] T. Battelino,et al. Next-Generation Sequencing in Newborn Screening: A Review of Current State , 2021, Frontiers in Genetics.
[2] J. Loeber,et al. [Neonatal screening in Europe revisited: An ISNS-perspective on the current state and developments since 2010]. , 2021, Medecine sciences : M/S.
[3] S. Grünert,et al. Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated. , 2021, The Journal of pediatrics.
[4] J. Vockley,et al. Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders , 2021, Genetics in Medicine.
[5] S. Grünert,et al. Newborn screening and disease variants predict neurological outcome in isovaleric aciduria , 2021, Journal of inherited metabolic disease.
[6] H. Levy. Ethical and Psychosocial Implications of Genomic Newborn Screening , 2021, International journal of neonatal screening.
[7] G. la Marca,et al. Development of Strategies to Decrease False Positive Results in Newborn Screening , 2020, International journal of neonatal screening.
[8] M. Durkin,et al. Translating Molecular Technologies into Routine Newborn Screening Practice , 2020, International journal of neonatal screening.
[9] Dona M. Kanavy,et al. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies. , 2020, American journal of human genetics.
[10] J. Merritt,et al. Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening , 2020, International journal of neonatal screening.
[11] Aashish N. Adhikari,et al. The role of exome sequencing in newborn screening for inborn errors of metabolism , 2020, Nature Medicine.
[12] S. Ferdinandusse,et al. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses , 2020, International journal of neonatal screening.
[13] P. Bross,et al. Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism , 2020, International journal of molecular sciences.
[14] R. Zetterström,et al. Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data , 2020, International journal of neonatal screening.
[15] P. Rinaldo,et al. The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism , 2020, International journal of neonatal screening.
[16] Ayesha Ahmad,et al. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I , 2020, International journal of neonatal screening.
[17] D. Hougaard,et al. Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years , 2020, Pediatric pulmonology.
[18] D. Hougaard,et al. Danish expanded newborn screening is a successful preventive public health programme. , 2020, Danish medical journal.
[19] D. Grafham,et al. Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service , 2019, International journal of neonatal screening.
[20] Kiely N. James,et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. , 2019, American journal of human genetics.
[21] D. Viskochil,et al. Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry , 2019, Clinical genetics.
[22] M. Hiligsmann,et al. Newborn screening for SMA in Southern Belgium , 2019, Neuromuscular Disorders.
[23] E. Parens,et al. On What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing. , 2019, The Hastings Center report.
[24] John Reynders,et al. Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation , 2019, Science Translational Medicine.
[25] G. Kollberg,et al. Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile , 2018, European Journal of Human Genetics.
[26] E. Parens,et al. Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies. , 2018, The Hastings Center report.
[27] M. Baumgartner,et al. Newborn screening: A disease‐changing intervention for glutaric aciduria type 1 , 2018, Annals of neurology.
[28] V. Sutton,et al. Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing , 2016, Current opinion in pediatrics.
[29] Madhuri Hegde,et al. Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing , 2016, Genetics in Medicine.
[30] T. Rootwelt,et al. Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years. , 2016, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.
[31] M. Daly,et al. High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA , 2016, PloS one.
[32] John J. Mitchell,et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study , 2016, Orphanet Journal of Rare Diseases.
[33] H. Yoon,et al. Screening newborns for metabolic disorders based on targeted metabolomics using tandem mass spectrometry , 2015, Annals of pediatric endocrinology & metabolism.
[34] Avni Santani,et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification , 2015, Genome research.
[35] T. Sokolsky,et al. Development of DNA Confirmatory and High-Risk Diagnostic Testing for Newborns Using Targeted Next-Generation DNA Sequencing , 2014, Genetics in Medicine.
[36] K. Bhattacharya,et al. Expanded newborn screening in New South Wales: missed cases , 2014, Journal of Inherited Metabolic Disease.
[37] Piero Rinaldo,et al. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry , 2014, Genetics in Medicine.
[38] J. Vissing,et al. Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene , 2013, Neurology.
[39] Flemming Skovby,et al. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. , 2012, Molecular genetics and metabolism.
[40] D. Hougaard,et al. MCAD deficiency in Denmark. , 2012, Molecular genetics and metabolism.
[41] Y. Li,et al. Psychological Effects of False-Positive Results in Expanded Newborn Screening in China , 2012, PLoS ONE.
[42] M. Murray. Genetic Screening of Prospective Parents , 2011 .
[43] J. Abdenur,et al. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. , 2010, Molecular genetics and metabolism.
[44] J. Till,et al. Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study , 2009, Journal of Inherited Metabolic Disease.
[45] J. Fletcher,et al. Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment , 2006, Human mutation.
[46] S. Waisbren,et al. Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result , 2006, Pediatrics.
[47] Edwin W. Naylor,et al. Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress , 2003 .
[48] I Knudsen,et al. Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. , 2001, American journal of human genetics.
[49] L. D. Schroeder,et al. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. , 1999, American journal of human genetics.
[50] G. Lynch,et al. Maple Syrup Urine Disease , 1964, Journal of mental deficiency research.
[51] D. Hougaard,et al. Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency. , 2015, JIMD reports.
[52] D. Hougaard,et al. Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. , 2012, JIMD reports.
[53] R. Hegele,et al. patient-oriented and epidemiological research Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I , 2009 .
[54] L. Waddell,et al. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. , 2006, Molecular genetics and metabolism.