CNRGH

Juliette Coursimault et al.
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Human Mutation 2022
doi: 10.1002/humu.24438

Clémence Labasse et al.
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Acta Neuropathologica Communications 2022, vol. 10, issue 1
doi: 10.1186/s40478-022-01400-0

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

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
doi: 10.1093/jnci/djac087

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

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

Sébastien Riquier et al.
Long non-coding RNA exploration for mesenchymal stem cell characterisation
BMC Genomics 2021, vol. 22, issue 1
doi: 10.1186/s12864-020-07289-0

Jean-Noël Hubert et al.
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma
Cancers 2021, vol. 13, issue 9
doi: 10.3390/cancers13092243