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

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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

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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

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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

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