CNRGH

Malfatti E. et al.
Recessive myopalladin mutations cause congenital cap myopathy with unusual rods.
Neuromus. Dis. (2017) Oct. 27: S185-S185.
doi: 10.1016/j.nmd.2017.06.331

Nelson I. et al.
Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophy.
Neuromus. Dis. (2017) Oct. 27: S139-S140.
doi: 10.1016/j.nmd.2017.06.172

Troudet R. et al.
RNA signature and prediction to treatment response in first episode schizophrenia.
European Neuropsychopharm. (2017) Oct. 27: S597-S597.
doi: 10.1016/S0924-977X(17)31139-2

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

Su XP. et al.
NSD1 inactivation and SETD2 mutation drive a convergence toward loss of function of H3K36 writers in Clear Cell Renal Cell Carcinomas.
Cancer Res. (2017) Sept. 77 (18): 4835-4845
doi: 10.1158/0008-5472.CAN-17-0143

Curtit E. et al.
Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes.
Breast Cancer Res. (2017) Aug. 19(1):98.
doi: 10.1186/s13058-017-0888-4

Genin E. et al.
The French Exome (FREX) Project: A Population-based panel of exomes to help filter out common local variants.
Genetic Epidemiology (2017) Aug. 41 (7): p. 691-691. The 2017 Annual Meeting of the International Genetic Epidemiology Society
doi: 10.1002/gepi.22062

Pierron D. et al.
Genomic landscape of human diversity across Madagascar.
Proc Natl Acad Sci U S A (2017) Aug. 114(32):E6498-E6506.
doi: 10.1073/pnas

Simandi Z. et al.
RXR heterodimers orchestrate transcriptional control of neurogenesis and cell fate specification.
Mol Cell Endocrinol. (2017) Aug. pii: S0303-7207(17)30413-6.
doi: 10.1016/j.mce.2017.07.033