Exome
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
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