CNRGH

Saultier P. et al.
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features.
Haematologica (2017) Jun. 102(6):1006-1016.
doi: 10.3324/haematol.2016.153577

Lornage X. et al.
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Ann Neurol. 2017 Mar. 81(3):467-473.
doi: 10.1002/ana.24900

Ivanova ELet al.
Homozygous truncating variants in TBC1D23 cause Pontocerebellar Hypoplasia and alter cortical development.
Am J Hum Genet. (2017) Sep. 101(3):428-440.
doi: 10.1016/j.ajhg.2017.07.010

Scelo G. et al.
Genome-wide association study identifies multiple risk loci for renal cell carcinoma.
Nat Commun. (2017) Jun. 8:15724.
doi: 10.1038/ncomms15724

Arandel L. et al.
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.
Disease Models Mechanisms (2017) Feb. 10: 487-497.
doi: 10.1242/dmm.027367

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