Exome
Andrés Berardo et al.
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
Journal of Neurology 2019, vol. 266, issue 10
doi: 10.1007/s00415-019-09437-3
Yiyi Ma et al.
Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype
JAMA Neurology 2019, vol. 76, issue 9
doi: 10.1001/jamaneurol.2019.1456
Chicard M et al.
Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma
Clinical Cancer Research 2017 24(4)
doi: 10.1158/1078-0432.CCR-17-1586
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
doi: 10.1183/13993003.02314-2016
Stéphanie Bauché et al.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
The American Journal of Human Genetics 2016, vol. 99, issue 3
doi: 10.1016/j.ajhg.2016.06.033
Kilan Le Guennec et al.
ABCA7 rare variants and Alzheimer disease risk
Neurology 2016, vol. 86, issue 23
doi: 10.1212/wnl.0000000000002627