Publications
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
Nathalie Iannuccelli et al.
Rabbit targeted genomic sequences after heterologous hybridization using human exome
BMC Research Notes 2022, vol. 15, issue 1
doi: 10.1186/s13104-022-06162-5
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
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
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
Anne-Céline Derrien et al.
Germline MBD4 Mutations and Predisposition to Uveal Melanoma
JNCI: Journal of the National Cancer Institute 2020, vol. 113, issue 1
doi: 10.1093/jnci/djaa047
Anne-Céline Derrien et al.
Germline MBD4 Mutations and Predisposition to Uveal Melanoma
JNCI: Journal of the National Cancer Institute 2020, vol. 113, issue 1
doi: 10.1093/jnci/djaa047
N. Alcala et al.
Integrative and comparative genomic analyses identify clinically relevant pulmonary carcinoid groups and unveil the supra-carcinoids
Nature Communications 2019, vol. 10, issue 1
doi: 10.1038/s41467-019-11276-9
Andrés Berardo et al.
HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
Journal of Neurology 2019, vol. 266, issue 10
doi: 10.1007/s00415-019-09437-3
Yiyi Ma et al.
Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype
JAMA Neurology 2019, vol. 76, issue 9
doi: 10.1001/jamaneurol.2019.1456
Chicard M et al.
Whole-Exome Sequencing of Cell-Free DNA Reveals Temporo-spatial Heterogeneity and Identifies Treatment-Resistant Clones in Neuroblastoma
Clinical Cancer Research 2017 24(4)
doi: 10.1158/1078-0432.CCR-17-1586
Artem Kim et al.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly
Brain 2018, vol. 142, issue 1
doi: 10.1093/brain/awy290