Page 6 - Read Online

Rare Disease and Orphan Drugs Journal

C O NT E NT S

Topic: Newborn Screening I - Real World Applications and Technologies

Systematic Review
1 A systematic review of real-world applications of genome sequencing for newborn screening
Giuditta Magnifico, Irene Artuso, Stefano Benvenuti

Opinion
2 Could federated data analysis be the catalyst accelerating the introduction of newborn genome screening for
the detection of genetic disease?
Petros Tsipouras, Maria Chatzou Dunford, Hadley Sheppard, Hannah Gaimster, Theoklis Zaoutis

Original Article
3 Next-generation sequencing-based newborn screening initiatives in Europe: an overview
Virginie Bros-Facer, Stacie Taylor, Christine Patch

Opinion
4 Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC

initiative
Guillem Pintos-Morell, Maria Iascone, Giorgio Casari, Raquel Yahyaoui, Elena-Alexandra Tãtaru,
Clara D. M. van Karnebeek, Francjan J. van Spronsen

Perspective
5 Newborn screening in Mexico and Latin America: present and future
Claudia Gonzaga-Jauregui, Rodrigo Moreno-Salgado, Jacqueline Tovar-Casas, Juana Inés Navarrete-Martínez

Opinion
6 Incorporating a new disease in the newborn screening programs in Europe: the spinal muscular atrophy
case study
Elena-Alexandra Tãtaru, Marie-Christine Ouillade, Chun-Hung Chan, David A. Pearce

Rare Disease and Orphan Drugs Journal