Exome
Anne Philippi et al.
Mutations and variants of ONECUT1 in diabetes
Nature Medicine 2021, vol. 27, issue 11
doi: 10.1038/s41591-021-01502-7
Valérie Biancalana et al.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Acta Neuropathologica Communications 2021, vol. 9, issue 1
doi: 10.1186/s40478-021-01254-y
Na Li et al.
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
npj Breast Cancer 2021, vol. 7, issue 1
doi: 10.1038/s41523-021-00255-3
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
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