Associated Papers
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › all_variants_pooled
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z et al.
Journal of Human Genetics, 2017
Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.
McInerney-Leo AM et al.
Clinical Genetics, 2015
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