about
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan dataTowards a comprehensive structural variation map of an individual human genomeMeta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsA genome-wide association study of anorexia nervosa.Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityRare deletions at the neurexin 3 locus in autism spectrum disorderMutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardationSHANK1 Deletions in Males with Autism Spectrum DisorderFunctional impact of global rare copy number variation in autism spectrum disordersGenome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controlsContribution of SHANK3 mutations to autism spectrum disorderStructural variation of chromosomes in autism spectrum disorderThe PsychENCODE projectA novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 yearsRare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disabilityRecurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders.Origins and functional impact of copy number variation in the human genomeGenome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanicsComprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsA family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3Individual common variants exert weak effects on the risk for autism spectrum disordersA genome-wide scan for common alleles affecting risk for autismA scan statistic to extract causal gene clusters from case-control genome-wide rare CNV dataEffective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphismsConvergence of genes and cellular pathways dysregulated in autism spectrum disorders.A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorderGenetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesNetwork topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism.A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.Genetics of photosensitivity (photoparoxysmal response): a review.A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.A genotype resource for postmortem brain samples from the Autism Tissue Program.HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis.Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder.Copy-number variation in control population cohorts.Gene expression elucidates functional impact of polygenic risk for schizophrenia.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
ricercatrice
@it
հետազոտող
@hy
name
Dalila Pinto
@ast
Dalila Pinto
@en
Dalila Pinto
@es
Dalila Pinto
@sl
type
label
Dalila Pinto
@ast
Dalila Pinto
@en
Dalila Pinto
@es
Dalila Pinto
@sl
prefLabel
Dalila Pinto
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Dalila Pinto
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Dalila Pinto
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Dalila Pinto
@sl
P1053
C-4218-2016
P106
P1153
7005542371
P21
P214
2413148705743937080000
P31
P3829
P496
0000-0002-8769-0846
P734
P735
P7859
viaf-2413148705743937080000