Exome

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

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

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