184 related articles for article (PubMed ID: 37794437)
1. Rare diseases' genetic newborn screening as the gateway to future genomic medicine: the Screen4Care EU-IMI project.
Ferlini A; Gross ES; Garnier N;
Orphanet J Rare Dis; 2023 Oct; 18(1):310. PubMed ID: 37794437
[TBL] [Abstract][Full Text] [Related]
2. 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
PLoS One; 2023; 18(11):e0293503. PubMed ID: 37992053
[TBL] [Abstract][Full Text] [Related]
3. Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S; Angolini E; Audi J; Bertini E; Bruno LP; Coulter J; Ferlini A; Fortunato F; Frankova V; Garnier N; Grauman Å; Gross E; Hauber B; Hansson M; Kirschner J; Knieling F; Kyosovksa G; Ottombrino S; Novelli A; Raming R; Sansen S; Saier C; Veldwijk J
BMJ Open; 2024 Apr; 14(4):e081835. PubMed ID: 38643010
[TBL] [Abstract][Full Text] [Related]
4. The future of Cochrane Neonatal.
Soll RF; Ovelman C; McGuire W
Early Hum Dev; 2020 Nov; 150():105191. PubMed ID: 33036834
[TBL] [Abstract][Full Text] [Related]
5. [Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities.].
Pàmpols Ros T; Pérez Aytés A; García Sagredo JM; Díaz de Bustamante A; Blanco Guillermo I
Rev Esp Salud Publica; 2022 Feb; 96():. PubMed ID: 35115483
[TBL] [Abstract][Full Text] [Related]
6. [Genomic newborn screening-research approaches, challenges, and opportunities].
Brennenstuhl H; Schaaf CP
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2023 Nov; 66(11):1232-1242. PubMed ID: 37831095
[TBL] [Abstract][Full Text] [Related]
7. [Genomic newborn screening. Perspective from the Ethics Commission of the Spanish Society for Human Genetics. Part II: Ethical, legal and social issues (ELSIs) of the introduction of next generation sequencing technologies in a public health newborn screening program.].
Pàmpols Ros T; Pérez Aytés A; García Sagredo JM; Díaz de Bustamante A; Blanco Guillermo I
Rev Esp Salud Publica; 2022 Mar; 96():. PubMed ID: 35283479
[TBL] [Abstract][Full Text] [Related]
8. The Reproductive Journey in the Genomic Era: From Preconception to Childhood.
Garcia-Herrero S; Simon B; Garcia-Planells J
Genes (Basel); 2020 Dec; 11(12):. PubMed ID: 33352697
[TBL] [Abstract][Full Text] [Related]
9. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
Bacchelli C; Williams HJ
Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
[TBL] [Abstract][Full Text] [Related]
10. Harmonising phenomics information for a better interoperability in the rare disease field.
Maiella S; Olry A; Hanauer M; Lanneau V; Lourghi H; Donadille B; Rodwell C; Köhler S; Seelow D; Jupp S; Parkinson H; Groza T; Brudno M; Robinson PN; Rath A
Eur J Med Genet; 2018 Nov; 61(11):706-714. PubMed ID: 29425702
[TBL] [Abstract][Full Text] [Related]
11. Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.
Vockley J; Defay T; Goldenberg AJ; Gaviglio AM
Am J Med Genet C Semin Med Genet; 2023 Mar; 193(1):77-86. PubMed ID: 36448938
[TBL] [Abstract][Full Text] [Related]
12. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Mora M; Angelini C; Bignami F; Bodin AM; Crimi M; Di Donato JH; Felice A; Jaeger C; Karcagi V; LeCam Y; Lynn S; Meznaric M; Moggio M; Monaco L; Politano L; de la Paz MP; Saker S; Schneiderat P; Ensini M; Garavaglia B; Gurwitz D; Johnson D; Muntoni F; Puymirat J; Reza M; Voit T; Baldo C; Bricarelli FD; Goldwurm S; Merla G; Pegoraro E; Renieri A; Zatloukal K; Filocamo M; Lochmüller H
Eur J Hum Genet; 2015 Sep; 23(9):1116-23. PubMed ID: 25537360
[TBL] [Abstract][Full Text] [Related]
13. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F; Kemppainen JL; Vitek CRR; Whalen DA; Kolbert KJ; Sikkink KJ; Kroc SA; Kruisselbrink T; Shupe GF; Knudson AK; Burke EM; Loftus EC; Bandel LA; Prochnow CA; Mulvihill LA; Thomas B; Gable DM; Graddy CB; Garzon GGM; Ekpoh IU; Porquera EMC; Fervenza FC; Hogan MC; El Ters M; Warrington KJ; Davis JM; Koster MJ; Orandi AB; Basiaga ML; Vella A; Kumar S; Creo AL; Lteif AN; Pittock ST; Tebben PJ; Abate EG; Joshi AY; Ristagno EH; Patnaik MS; Schimmenti LA; Dhamija R; Sabrowsky SM; Wierenga KJ; Keddis MT; Samadder NJJ; Presutti RJ; Robinson SI; Stephens MC; Roberts LR; Faubion WA; Driscoll SW; Wong-Kisiel LC; Selcen D; Flanagan EP; Ramanan VK; Jackson LM; Mauermann ML; Ortega VE; Anderson SA; Aoudia SL; Klee EW; McAllister TM; Lazaridis KN
J Transl Med; 2023 Jun; 21(1):410. PubMed ID: 37353797
[TBL] [Abstract][Full Text] [Related]
14. Diagnostic guidelines for newborns who screen positive in newborn screening.
Kronn D; Mofidi S; Braverman N; Harris K;
Genet Med; 2010 Dec; 12(12 Suppl):S251-5. PubMed ID: 21150371
[TBL] [Abstract][Full Text] [Related]
15. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada de la Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS
Adv Exp Med Biol; 2017; 1031():55-94. PubMed ID: 29214566
[TBL] [Abstract][Full Text] [Related]
16. Rare disease emerging as a global public health priority.
Chung CCY; ; Chu ATW; Chung BHY
Front Public Health; 2022; 10():1028545. PubMed ID: 36339196
[TBL] [Abstract][Full Text] [Related]
17. Genetic screening techniques and diseases for neonatal genetic diseases.
Han L
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2021 Aug; 50(4):429-435. PubMed ID: 34704410
[TBL] [Abstract][Full Text] [Related]
18. Sequencing projects will screen 200,000 newborns for disease.
Kaiser J
Science; 2022 Dec; 378(6625):1159. PubMed ID: 36520905
[TBL] [Abstract][Full Text] [Related]
19. Current Trends in Genetics and Neonatal Care.
Uveges MK; Holm IA
Adv Neonatal Care; 2021 Dec; 21(6):473-481. PubMed ID: 33538495
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
