Exome

Denisa Hathazi et al.
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
Brain 2021, vol. 144, issue 8
doi: 10.1093/brain/awab133

Céline Callens et al.
Molecular features of untreated breast cancer and initial metastatic event inform clinical decision-making and predict outcome: long-term results of ESOPE, a single-arm prospective multicenter study
Genome Medicine 2021, vol. 13, issue 1
doi: 10.1186/s13073-021-00862-6

Qiaowei Pan et al.
The rise and fall of the ancient northern pike master sex-determining gene
eLife 2021, vol. 10
doi: 10.7554/elife.62858

Xavière Lornage et al.
Asymmetric muscle weakness due to ACTA1 mosaic mutations
Neurology 2020, vol. 95, issue 24
doi: 10.1212/wnl.0000000000010947

Mathieu Cerino et al.
Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy
Molecular Genetics & Genomic Medicine 2020, vol. 8, issue 8
doi: 10.1002/mgg3.1277

A. Reghan Foley et al.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Annals of Neurology 2020, vol. 88, issue 2
doi: 10.1002/ana.25772

M. Cerino et al.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Neuropathology and Applied Neurobiology 2020, vol. 46, issue 6
doi: 10.1111/nan.12624

Anne-Céline Derrien et al.
Germline MBD4 Mutations and Predisposition to Uveal Melanoma
JNCI: Journal of the National Cancer Institute 2020, vol. 113, issue 1
doi: 10.1093/jnci/djaa047

Anne-Céline Derrien et al.
Germline MBD4 Mutations and Predisposition to Uveal Melanoma
JNCI: Journal of the National Cancer Institute 2020, vol. 113, issue 1
doi: 10.1093/jnci/djaa047

N. Alcala et al.
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Nature Communications 2019, vol. 10, issue 1
doi: 10.1038/s41467-019-11276-9