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, vol. 103, issue 3
doi: 10.1111/cge.14270
Yue Jiao et al.
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
European Journal of Cancer 2022, vol. 179
doi: 10.1016/j.ejca.2022.11.007
Tanya Stojkovic et al.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Journal of Neuromuscular Diseases 2022, vol. 10, issue 1
doi: 10.3233/jnd-221555
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
Julien Coutier et al.
MXD4/MAD4 Regulates Human Keratinocyte Precursor Fate
Journal of Investigative Dermatology 2022, vol. 143, issue 1
doi: 10.1016/j.jid.2022.07.020
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