Exome
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
Lauriane Le Collen et al.
Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis
Orphanet Journal of Rare Diseases 2022, vol. 17, issue 1
doi: 10.1186/s13023-022-02248-2
Nicolas Cornière et al.
Dominant negative mutation in oxalate transporterSLC26A6associated with enteric hyperoxaluria and nephrolithiasis
Journal of Medical Genetics 2022, vol. 59, issue 11
doi: 10.1136/jmedgenet-2021-108256
Sadia Saeed et al.
Rare Variant Analysis of Obesity-Associated Genes in Young Adults With Severe Obesity From a Consanguineous Population of Pakistan
Diabetes 2022, vol. 71, issue 4
doi: 10.2337/db21-0373
Prapaporn Jungtrakoon Thamtarana et al.
Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia
The Journal of Clinical Endocrinology & Metabolism 2021, vol. 107, issue 3
doi: 10.1210/clinem/dgab790