CNRGH

Loïc Couloigner et al.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Clinical Genetics 2022
doi: 10.1111/cge.14270

Estelle Colin et al.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Frontiers in Cell and Developmental Biology 2022, vol. 10
doi: 10.3389/fcell.2022.1021785

L. Mangiante et al.
OA04.05 MESOMICS Project: Using Whole-Genome Sequencing Data to Fill the Gaps in Malignant Pleural Mesothelioma Molecular Studies
Journal of Thoracic Oncology 2022, vol. 17, issue 9
doi: 10.1016/j.jtho.2022.07.029

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

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