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Clinical Chemistry and Laboratory Medicine|November 21, 2022
The gaps between the new EU legislation on in vitro diagnostics and the on-the-ground realityDenis Horgan, Mario Plebani, Matthias Orth, et al.
Orphanet Journal of Rare Diseases|December 19, 2022
Rare disease education in Europe and beyond: time to actBirute Tumiene, Harm Peters, Bela Melegh, et al.
BMC Genetics|February 21, 2016
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian populationVioleta Mikstiene, Audrone Jakaitiene, Jekaterina Byckova, et al.
Biomedicine Hub|February 10, 2021
Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed?Denis Horgan, Barbara Moss, Stefania Boccia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra SyndromeArianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Frontiers in Public Health|June 26, 2026
European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research frameworkFernanda Fortunato, Rita Selvatici, Jan Kirschner, et al.
Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypesSiwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
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