CNRGH
Catherine Schramm et al.
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Genome Medicine 2022, vol. 14, issue 1
doi: 10.1186/s13073-022-01070-6
Laura Molina et al.
Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma
Journal of Hepatology 2022, vol. 77, issue 4
doi: 10.1016/j.jhep.2022.05.018
Hong Joo Kim et al.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
Nature Communications 2022, vol. 13, issue 1
doi: 10.1038/s41467-022-30015-1
Aurélie A G Gabriel et al.
Genetic Analysis of Lung Cancer and the Germline Impact on Somatic Mutation Burden
JNCI: Journal of the National Cancer Institute 2022, vol. 114, issue 8
doi: 10.1093/jnci/djac087
Laura Piel et al.
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
PLOS Pathogens 2022, vol. 18, issue 3
doi: 10.1371/journal.ppat.1010375
Laurene Abjean et al.
Reactive astrocytes promote proteostasis in Huntington’s disease through the JAK2-STAT3 pathway
Brain 2022, vol. 146, issue 1
doi: 10.1093/brain/awac068
Anne-Sophie Denommé-Pichon et al.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
European Journal of Human Genetics 2021, vol. 30, issue 5
doi: 10.1038/s41431-021-00998-4
Juliette Coursimault et al.
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Human Genetics 2021, vol. 141, issue 1
doi: 10.1007/s00439-021-02383-z
Anne Philippi et al.
Mutations and variants of ONECUT1 in diabetes
Nature Medicine 2021, vol. 27, issue 11
doi: 10.1038/s41591-021-01502-7
Valérie Biancalana et al.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications 2021, vol. 9, issue 1
doi: 10.1186/s40478-021-01254-y