Associated Papers
A holistic approach to maximise diagnostic output in trio exome sequencing.
von Hardenberg S et al.
Frontiers in Pediatrics, 2023
37274821 (PubMed )
Supplement: Datasheet1.xlsx › Table_2_VUS_variants
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.
Johnson K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
29921608 (PubMed )
Supplement: jnnp-2018-318288supp001.pdf
The cilium: a cellular antenna with an influence on obesity risk.
Mariman EC et al.
The British Journal of Nutrition, 2016
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 2016
27353947 (PubMed )
Supplement: srep28755-s1.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506
Select a paper to view details