Silvia Paracchini: Influence Statistics

Silvia Paracchini

Silvia Paracchini

School of Medicine, University of St Andrews, St Andrews, Scotland | School of Medicine, University of St Andrews, North Haugh, KY16 9TF, St Andrews, UK | School of Medicine, ...

Silvia Paracchini: Expert Impact

Concepts for which Silvia Paracchini has direct influence: Hand preference , Kiaa0319 gene , Neuronal migration , Footedness prevalence , Language impairment , Candidate genes , Developmental dyslexia .

Silvia Paracchini: KOL impact

Concepts related to the work of other authors for which for which Silvia Paracchini has influence: Developmental dyslexia , Male infertility , Language impairment , Candidate genes , Neuronal migration , North africa , Chromosomes human .

KOL Resume for Silvia Paracchini

Year
2022

School of Medicine, University of St Andrews, St Andrews, Scotland

2021

School of Medicine, Medical & Biological Sciences, University of St Andrews, St Andrews, KY16 9TF, UK

2020

School of Medicine, University of St Andrews, St. Andrews, Scotland

2019

School of Medicine, University of St Andrews, St Andrews, KY16 9TF, UK

2018

Biomedical Sciences Research Complex, University of St Andrews, North Haugh St Andrews, KY16 9ST, UK

School of Medicine, University of St. Andrews, St Andrews, United Kingdom

2017

School of Medicine, University of St Andrews, North Haugh, KY16 8LG, St. Andrews, Scotland

2016

University of St Andrews, St Andrews, United Kingdom.

2015

School of Medicine, University of St Andrews, St Andrews, United Kingdom

2014

School of Medicine, University of St. Andrews, St. Andrews, KY16 9TF, UK; E-Mail:,

2013

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

2012

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom

2011

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN UK

2010

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford, OX3 7BN UK

2009

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK

2008

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK.

2007

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN, Headington, Oxford, UK

2006

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.

Department of Biochemistry, University of Oxford, Oxford, UK

2004

Department of Physiology, University of Oxford, Parks Road, Oxford, OX1 3PT, UK

2003

Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.

2002

CRC Chromosome Molecular Biology Group, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU, UK.

1998

Department of Microbiology, Technical University of Denmark, Building 301, DK 2800, Lyngby, Denmark

Prominent publications by Silvia Paracchini

KOL-Index: 12476 . BACKGROUND: Several susceptibility genes have been proposed for dyslexia (reading disability; RD) and specific language impairment (SLI). RD and SLI show comorbidity, but it is unclear whether a common genetic component is shared. METHODS: We have investigated whether candidate genes for RD and SLI affect specific cognitive traits or have broad effect on cognition. We have analyzed common ...
Known for Dcdc2 Kiaa0319 | Reading Language | Candidate Genes | Mrpl19 C2orf3
KOL-Index: 12210 . Dyslexia (or reading disability) and specific language impairment (or SLI) are common childhood disorders that show considerable co-morbidity and diagnostic overlaps and have been suggested to share some genetic aetiology. Recently, genetic risk variants have been identified for SLI and dyslexia enabling the direct evaluation of possible shared genetic influences between these disorders. ...
Known for Sli Dyslexia | Kiaa0319 Dcdc2 | Risk Variants | Cntnap2 Cmip
KOL-Index: 11361 . Neurofibrillary tangles composed of exon 10+ microtubule associated protein tau (MAPT) deposits are the characteristic feature of the neurodegenerative diseases progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). PSP, CBD and more recently Alzheimer's disease and Parkinson's disease, are associated with the MAPT H1 haplotype, but the relationship between genotype and ...
Known for Exon 10 | Mapt H1 | Psp Cbd | Specific Expression
KOL-Index: 11151 . Deletion of the entire AZFc locus on the human Y chromosome leads to male infertility. The functional roles of the individual gene families mapped to AZFc are, however, still poorly understood, since the analysis of the region is complicated by its repeated structure. We have therefore used single-nucleotide variants (SNVs) across approximately 3 Mb of the AZFc sequence to identify 17 AZFc ...
Known for Azfc Deletion | Human Chromosome | Male Fertility | Daz3 Daz4
KOL-Index: 10238 . BACKGROUND: Autism spectrum disorders (ASDs) are characterized by social, communication, and behavioral deficits and complex genetic etiology. A recent study of 517 ASD families implicated DOCK4 by single nucleotide polymorphism (SNP) association and a microdeletion in an affected sibling pair. METHODS: The DOCK4 microdeletion on 7q31.1 was further characterized in this family using ...
Known for Asd Dyslexia | Pervasive Child | Genomic Background | Behavioral Deficits
KOL-Index: 10048 . Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological ...
Known for Language Impairment | Term Memory | Phonological Short | Cmip Sli
KOL-Index: 9169 . Dyslexia is one of the most prevalent childhood cognitive disorders, affecting approximately 5% of school-age children. We have recently identified a risk haplotype associated with dyslexia on chromosome 6p22.2 which spans the TTRAP gene and portions of THEM2 and KIAA0319. Here we show that in the presence of the risk haplotype, the expression of the KIAA0319 gene is reduced but the ...
Known for Neuronal Migration | Kiaa0319 Gene | Risk Haplotype | Situ Hybridization
KOL-Index: 9047 . OBJECTIVE: The authors previously identified a haplotype on chromosome 6p22 defined by three single-nucleotide polymorphisms (SNPs) that was associated with dyslexia (reading disability) in two independent samples of families that included at least one sibling with severe reading impairment. The authors also showed that this haplotype is associated with a reduction in expression of the ...
Known for Reading Skills | Kiaa0319 Dyslexia | Snps Association | Risk Haplotype
KOL-Index: 8570 . Specific language impairment (SLI) is a neurodevelopmental disorder that affects linguistic abilities when development is otherwise normal. We report the results of a genome-wide association study of SLI which included parent-of-origin effects and child genotype effects and used 278 families of language-impaired children. The child genotype effects analysis did not identify significant ...
Known for Specific Language Impairment | Origin Effects | Genome Wide | Association Analyses
KOL-Index: 8451 . The DYX2 locus on chromosome 6p22.2 is the most replicated region of linkage to developmental dyslexia (DD). Two candidate genes within this region have recently been implicated in the disorder: KIAA0319 and DCDC2. Variants within DCDC2 have shown association with DD in a US and a German sample. However, when we genotyped these specific variants in two large, independent UK samples, we ...
Known for Kiaa0319 Gene | Developmental Dyslexia | Dcdc2 Association | Dyx2 Locus
KOL-Index: 7211 . We have typed 275 men from five populations in Algeria, Tunisia, and Egypt with a set of 119 binary markers and 15 microsatellites from the Y chromosome, and we have analyzed the results together with published data from Moroccan populations. North African Y-chromosomal diversity is geographically structured and fits the pattern expected under an isolation-by-distance model. ...
Known for Neolithic Origin | Middle East | Northern Chromosomes | North African
KOL-Index: 6957 . Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb ...
Known for United States | Human Pair | Reading Disability | Association Analysis
KOL-Index: 6428 . AIM: Sex chromosome aneuploidies increase the risk of spoken or written language disorders but individuals with specific language impairment (SLI) or dyslexia do not routinely undergo cytogenetic analysis. We assess the frequency of sex chromosome aneuploidies in individuals with language impairment or dyslexia. METHOD: Genome-wide single nucleotide polymorphism genotyping was performed in ...
Known for Sex Chromosome Aneuploidies | Language Impairment | 18 Years | Disorders Male
KOL-Index: 6376 . Several genes have been suggested as dyslexia candidates. Some of these candidate genes have been recently shown to be associated with literacy measures in sample cohorts derived from the general population. Here, we have conducted an association study in a novel sample derived from the Australian population (the Raine cohort) to further investigate the role of dyslexia candidate genes. We ...
Known for Candidate Genes | Dyx1c1 Gene | Cytoskeletal Proteins | Mrpl19 C2orf3
KOL-Index: 6197 . Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40-60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, ...
Known for Developmental Dyslexia | Genetic Correlates | Genomewide Association Study | Brain Development

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M Philip Bryden
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School of Medicine, University of St Andrews, St Andrews, Scotland | School of Medicine, University of St Andrews, North Haugh, KY16 9TF, St Andrews, UK | School of Medicine, Medical & Biological Sciences, University of St Andrews, St Andrews, KY16 9