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2023 16
2024 41

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55 results

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Page 1
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T, Fan C, Huang Y, Feng J, Zhang Y, Miao J, Wang X, Li Y, Huang C, Jin W, Tang C, Feng L, Yin Y, Zhu B, Sun M, Liu X, Xiang J, Tan M, Jia L, Chen L, Huang H, Peng H, Sun X, Gu X, Peng Z, Zhu B, Zou H, Han L. Chen T, et al. JAMA Netw Open. 2023 Sep 5;6(9):e2331162. doi: 10.1001/jamanetworkopen.2023.31162. JAMA Netw Open. 2023. PMID: 37656460 Free PMC article.
Genetic Screening-Emerging Issues.
Cornel MC, van der Meij KRM, van El CG, Rigter T, Henneman L. Cornel MC, et al. Genes (Basel). 2024 May 3;15(5):581. doi: 10.3390/genes15050581. Genes (Basel). 2024. PMID: 38790210 Free PMC article. Review.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
Crefcoeur L, Ferdinandusse S, van der Crabben SN, Dekkers E, Fuchs SA, Huidekoper H, Janssen M, Langendonk J, Maase R, de Sain M, Rubio E, van Spronsen FJ, Vaz FM, Verschoof R, de Vries M, Wijburg F, Visser G, Langeveld M. Crefcoeur L, et al. J Med Genet. 2023 Nov 27;60(12):1177-1185. doi: 10.1136/jmg-2023-109206. J Med Genet. 2023. PMID: 37487700 Free PMC article.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S. Laugwitz L, et al. Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. Eur J Paediatr Neurol. 2024. PMID: 38554683 Free article.
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S, Zhan X, Liu Y, Song H, Gong Z, Han L, Maegawa GHB, Gu X, Zhang H. Chang S, et al. JAMA Netw Open. 2024 May 1;7(5):e2410754. doi: 10.1001/jamanetworkopen.2024.10754. JAMA Netw Open. 2024. PMID: 38739391 Free PMC article.
55 results