El-Bazzal, L. et al. 2018 A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2) We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole... Eur J Med Genet - issue: - volume: - pages: .
Jaouadi, H. et al. 2018 Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric... J Hum Genet - issue: - volume: 63 - pages: 1077-1082.
Jaouadi, H. et al. 2018 Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. Pediatric cardiomyopathy is a complex disease with clinical and genetic heterogeneity. Recently, the ALPK3 gene was described as a new hereditary cardiomyopathy gene underlying pediatric... - issue: - volume: 63 - pages: 1077--1082.
Shabana, n. et al. 2018 Use of a gene score of multiple low-modest effect size variants can predict the risk of obesity better than the individual SNPs BACKGROUND: Obesity is a complex disorder, the development of which is modulated by a multitude of environmental, behavioral and genetic factors. The common forms of obesity are polygenic in nature... Lipids Health Dis - issue: 1 - volume: 17 - pages: 155.
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,... Bioinformatics - issue: - volume: - pages: .
Valdeolivas, A. et al. 2018 Random Walk with Restart on Multiplex and Heterogeneous Biological Networks Motivation: Recentyears have witnessed anexponentialgrowthin thenumberof identified interactions between biological molecules. These interactions are usually represented as large and complex networks,... Bioinformatics - issue: - volume: - pages: .
Valdeolivas, A. et al. 2018 Random walk with restart on multiplex and heterogeneous biological networks - issue: - volume: - pages: .
Guinde, J. et al. 2018 Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation? Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or... Cells - issue: 7 - volume: 7 - pages: .
Guinde, J. et al. 2018 Lamins in Lung Cancer: Biomarkers and Key Factors for Disease Progression through miR-9 Regulation? Lung cancer represents the primary cause of cancer death in the world. Malignant cells identification and characterization are crucial for the diagnosis and management of patients with primary or... Cells - issue: 7 - volume: 7 - pages: .
Valence, S. et al. 2018 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies PURPOSE: To investigate the genetic basis of congenital ataxias (CAs), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify... Genet. Med. - issue: - volume: - pages: .
Valence, S. et al. 2018 Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies - issue: - volume: - pages: .
Didier, G. et al. 2018 Identifying communities from multiplex biological networks by randomized optimization of modularity The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification DREAM challenge established a framework to evaluate... F1000Research - issue: - volume: 7 - pages: 1042.
Didier, G. et al. 2018 Identifying communities from multiplex biological networks by randomized optimization of modularity The identification of communities, or modules, is a common operation in the analysis of large biological networks. The Disease Module Identification established a framework to evaluate clustering... - issue: - volume: 7 - pages: .
Benson, MD. et al. 2018 Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis BACKGROUND: Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding transthyretin ( TTR) that induce transthyretin misfolding and systemic... N. Engl. J. Med. - issue: 1 - volume: 379 - pages: 22-31.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
Desvignes, J. et al. 2018 VarAFT: a variant annotation and filtration system for human next generation sequencing data With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these... Nucleic Acids Res. - issue: W1 - volume: 46 - pages: W545-W553.
Mignon-Ravix, C. et al. 2018 Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his... Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.
Mignon-Ravix, C. et al. 2018 Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his... - issue: 7 - volume: 39 - pages: 934-938.