Bordet, C. et al. 2019 Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study) - issue: 2 - volume: 27 - pages: 1317-1318.
Abaji, M. et al. 2019 A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder - issue: 2 - volume: 27 - pages: 1407.
Racine, C. et al. 2019 Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A - issue: 2 - volume: 27 - pages: 1529-1530.
Wang, Q. et al. 2019 Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome - issue: 2 - volume: 27 - pages: 1595.
Gorokhova, S. et al. 2019 A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports - issue: 2 - volume: 27 - pages: 1661.
Mejean, C. et al. 2019 Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl - issue: 10 - volume: 7 - pages: 2008-2010.
Kinoshita, J. et al. 2019 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19-20 June 2019 - issue: 10 - volume: 29 - pages: 811-817.
Bordet, C. et al. 2019 Psycho-social impact of predictive genetic testing in hereditary heart diseases (PREDICT Study) - issue: 2 - volume: 27 - pages: 1317-1318.
Abaji, M. et al. 2019 A homozygous loss-of-function variant in the TRAPPC2L gene causes a neurodevelopmental disorder overlapping TRAPPC9-related disorder - issue: 2 - volume: 27 - pages: 1407.
Racine, C. et al. 2019 Further delineation of O2HE syndrome due to UNC45A biallelic variants and launching of the initiative adopt a gene for UNC45A - issue: 2 - volume: 27 - pages: 1529-1530.
Wang, Q. et al. 2019 Characterization of heterozygous PMS2 variants in French patients with Lynch syndrome - issue: 2 - volume: 27 - pages: 1595.
Gorokhova, S. et al. 2019 A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports - issue: 2 - volume: 27 - pages: 1661.
Cuny, T. et al. 2019 Acromegaly in Carney complex Purpose Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by... - issue: 5 - volume: 22 - pages: 456-466.
Mejean, C. et al. 2019 Chronic hepatitis associated with antiribosomal-P autoantibodies in a 14-year-old girl We reported the first pediatric case of auto-immune hepatitis with positive anti-P antibodies. On the basis of our findings, adding auto anti-P screening in pediatric seronegative HAI may be... - issue: 10 - volume: 7 - pages: 2008-2010.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue - issue: 36 - volume: 25 - pages: 5530-5542.
Laquiere, AE. et al. 2019 Genomic profile concordance between pancreatic cyst fluid and neoplastic tissue BACKGROUND DNA mutational analysis of pancreatic cystic fluid (CF) is a useful adjunct to the evaluation of pancreatic cysts. KRAS/GNAS or RAF/PTPRD/CTNNB1/RNF43 mutations are highly specific to... - issue: 36 - volume: 25 - pages: 5530-5542.
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis - issue: - volume: 9 - pages: .
Martin, G. et al. 2019 Mosaicism of XX and XXY cells accounts for high copy number of Toll like Receptor 7 and 8 genes in peripheral blood of men with Rheumatoid Arthritis The X chromosome, hemizygous in males, contains numerous genes important to immunological and hormonal function. Alterations in X-linked gene dosage are suspected to contribute to female predominance... - issue: - volume: 9 - pages: .
The DREAM Module Identification Challenge Consortium, . et al. 2019 Assessment of network module identification across complex diseases Many bioinformatics methods have been proposed for reducing the complexity of large gene or protein networks into relevant subnetworks or modules. Yet, how such methods compare to each other in terms... Nature Methods - issue: 9 - volume: 16 - pages: 843-852.