FREX
Mandy L. Ballinger et al.
Heritable defects in telomere and mitotic function selectively predispose to sarcomas
Science 2023, vol. 379, issue 6629
doi: 10.1126/science.abj4784
Ozvan Bocher et al.
Extension of SKAT to multi-category phenotypes through a geometrical interpretation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-00792-8
Olivier Quenez et al.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-0672-2
Bourcier R et al.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm
The American Journal of Human Genetics 2018 102(1)
doi: 10.1016/j.ajhg.2017.12.006
Husson T et al.
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Translational Psychiatry 2018 8(1)
doi: 10.1038/s41398-018-0291-7
Khan W et al.
MACARON: a python framework to identify and re-annotate multi-base affected codons in whole genome/exome sequence data
Bioinformatics 2018 34(19)
doi: 10.1093/bioinformatics/bty382
Emmanuelle Boscher et al.
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer’s Disease
Journal of Alzheimer's Disease 2019, vol. 68, issue 3
doi: 10.3233/jad-180940
Artem Kim et al.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Brain 2018, vol. 142, issue 1
doi: 10.1093/brain/awy290
Stéphanie Guey et al.
Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians
European Journal of Human Genetics 2017, vol. 25, issue 8
doi: 10.1038/ejhg.2017.92
Pierre-Antoine Juge et al.
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis
European Respiratory Journal 2017, vol. 49, issue 5
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