Exome
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
Mathilde Saint-Ghislain et al.
MBD4 deficiency is predictive of response to immune checkpoint inhibitors in metastatic uveal melanoma patients
European Journal of Cancer 2022, vol. 173
doi: 10.1016/j.ejca.2022.06.033
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
Payel Banerjee et al.
Molecular and Cellular Analysis of the Repair of Zebrafish Optic Tectum Meninges Following Laser Injury
Cells 2022, vol. 11, issue 13
doi: 10.3390/cells11132016
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
Mathilde Dura et al.
DNMT3A-dependent DNA methylation is required for spermatogonial stem cells to commit to spermatogenesis
Nature Genetics 2022, vol. 54, issue 4
doi: 10.1038/s41588-022-01040-z
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