about
Detection of Genomic Structural Variants from Next-Generation Sequencing DataThe antiangiogenic tissue kallikrein pattern of endothelial cells in systemic sclerosisA model of anti-angiogenesis: differential transcriptosome profiling of microvascular endothelial cells from diffuse systemic sclerosis patients.Discovering chimeric transcripts in paired-end RNA-seq data by using EricScript.Bioinformatics for next generation sequencing data.H3M2: detection of runs of homozygosity from whole-exome sequencing data.Detection of runs of homozygosity from whole exome sequencing data: state of the art and perspectives for clinical, population and epidemiological studies.Using a calibration experiment to assess gene-specific information: full Bayesian and empirical Bayesian models for two-channel microarray data.Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2Characterization of MinION nanopore data for resequencing analyses.A shifting level model algorithm that identifies aberrations in array-CGH data.A very fast and accurate method for calling aberrations in array-CGH data.EXCAVATOR: detecting copy number variants from whole-exome sequencing dataDetecting common copy number variants in high-throughput sequencing data by using JointSLM algorithm.Sphingosine 1-phosphate induces differentiation of mesoangioblasts towards smooth muscle. A role for GATA6372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.WNP: a novel algorithm for gene products annotation from weighted functional networks.Characterization and identification of hidden rare variants in the human genome.Apolipoprotein(a) Kringle-IV Type 2 Copy Number Variation Is Associated with Venous Thromboembolism.Nanopore sequencing data analysis: state of the art, applications and challenges.Epilepsy with auditory features: A heterogeneous clinico-molecular disease.Editorial: Repetitive Structures in Biological Sequences: Algorithms and Applications.Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.SLMSuite: a suite of algorithms for segmenting genomic profiles.Carotid artery disease: novel pathophysiological mechanisms identified by gene-expression profiling of peripheral blood.Genome-wide copy number analysis in pediatric glioblastoma multiforme.Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis.XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.High-throughput multiplex single-nucleotide polymorphism (SNP) analysis in genes involved in methionine metabolism.EX-HOM (EXome HOMozygosity): a proof of principle.A systematic analysis of bone marrow cells by flow cytometry defines a specific phenotypic profile beyond GPI deficiency in paroxysmal nocturnal hemoglobinuria.Assessment of fibrinolytic activity by measuring the lysis time of a tissue-factor-induced clot: a feasibility evaluation.A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.Early-onset ischaemic stroke: analysis of 58 polymorphisms in 17 genes involved in methionine metabolism.Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.A new hybrid approach for MHC genotyping: high-throughput NGS and long read MinION nanopore sequencing, with application to the non-model vertebrate Alpine chamois (Rupicapra rupicapra).Xome-Blender: A novel cancer genome simulator.Correction: Desmoglein-2-Integrin Beta-8 Interaction Regulates Actin Assembly in Endothelial Cells: Deregulation in Systemic Sclerosis.Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical PhenotypeGenetic polymorphisms of antioxidant enzymes as risk factors for oxidative stress-associated complications in preterm infants
P50
Q28082859-B5EFB1FC-9681-4B88-A425-64A19F9401A7Q28279380-7D850736-F6AC-47C8-B0E1-722AA3D4DEFEQ30478833-CAEEFE98-6776-4DD6-BE5E-F0CA47B32BCAQ30574550-1CAEE1CC-39B2-4069-98FA-E87D30765ABAQ30795509-64555CF8-338B-4E38-92A8-C61BF3D66EDEQ30833450-510D2E2C-20A6-4360-A541-0067DA6AE0B1Q30838555-A07695F8-5B0A-4B0F-BD1A-A605AF4ED63AQ31015408-52DF805C-7D5E-46B4-A17D-0B8F060F11B1Q31120762-0475681B-C757-4700-BA53-4D0319527F61Q31123475-799D71AC-CED3-471D-9A2A-0EFA3A3B9DBBQ33516916-A315C46D-A070-48AC-AC46-8A6EC38A8174Q33537635-687ACA13-42C7-4F4C-B2B2-8DC113A90CC8Q33742574-8E6982F7-40A0-4B5E-8B7E-C7751FBA63A1Q33820514-2874A24B-3B01-439B-9F02-A60647EA4EBDQ33918167-4ECD74BC-F13F-436C-A90F-D5E1FC611956Q34254326-D6A6D3B8-EE65-43F4-B4A4-79453421761AQ34325782-F74ED2A8-38DC-4E2B-8027-A60E3824E343Q35559123-67634333-FCAF-4F65-8D8F-25292A2DC7E7Q35930428-59863429-BD85-46CF-BDEE-140F78232B03Q36411572-337556FF-87A4-47CC-A7DB-BC8E55E3FF89Q36766074-879579C9-359F-4CE8-B5B7-DA8B9D00CF05Q37150627-A6AE8D9E-BB66-4972-B0DA-E7F94C71FF28Q37956210-DE96BD72-F248-464D-8E44-41B4F684C33DQ38430190-39EFCC83-C908-48A6-9E7B-A0C065ED9058Q38505361-6E943448-182F-4BDE-AC2A-2AB436637301Q40950711-68A9B56D-C997-47D4-9F28-17F8FF2B0D27Q41537361-E9C61F17-8664-4E7E-8E6F-65A153D89211Q41691078-43FBACAC-8F66-48BC-8752-3EABEB2D14CAQ42167125-A3624B57-407E-401A-9BE9-B57182938ECAQ42613349-DAC10F30-3D4A-4C93-8C84-B1B74B9046F6Q43650499-1787264F-4702-452D-A012-A9DCF8702B32Q46178310-4315BD02-044B-4EBA-88C7-4654FE4EF97BQ47268315-75CA6EA5-FE84-4F6C-85C4-E821B7D2CC95Q50112681-7901A8E5-90C5-43F8-B69E-5C6A8ED90803Q50996851-01BF50D1-2F91-43B5-8013-7B01CFBE3BCBQ51145307-60699DDA-5EC3-4A3F-B672-B75526D51009Q52330987-84BCB3BE-0065-4C9D-B154-7AE66EED6DFDQ55515718-684F0385-D1EC-4DAB-9C22-7A317B3972A8Q58762722-F0FCB1BA-408C-421D-B71B-BBF13F445D16Q62607032-C906C384-E75E-4A75-AAAA-7D89827188AB
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Alberto Magi
@ast
Alberto Magi
@en
Alberto Magi
@es
Alberto Magi
@nl
type
label
Alberto Magi
@ast
Alberto Magi
@en
Alberto Magi
@es
Alberto Magi
@nl
prefLabel
Alberto Magi
@ast
Alberto Magi
@en
Alberto Magi
@es
Alberto Magi
@nl
P106
P1153
9242069100
P21
P31
P496
0000-0001-7393-4283