List of works by Simon Fisher

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans

scientific article published on 22 March 2021

A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States

scientific article

A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus

scientific article

A Foxp2 Mutation Implicated in Human Speech Deficits Alters Sequencing of Ultrasonic Vocalizations in Adult Male Mice

scientific article published on 20 October 2016

A Pooled Genome-Wide Association Study of Asperger Syndrome

scientific article published on 15 July 2015

A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer

scientific article published on 20 August 2015

A common variant of the CNTNAP2 gene is associated with structural variation in the left superior occipital gyrus.

scientific article

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment

scientific article published on 8 April 2015

A functional genetic link between distinct developmental language disorders

scientific article

A genome wide association study of mathematical ability reveals an association at chromosome 3q29, a locus associated with autism and learning difficulties: a preliminary study

scientific article

A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.

scientific article

A genomewide linkage screen for relative hand skill in sibling pairs

scientific article published on 3 January 2002

A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11

scientific article

A genomewide scan for loci involved in attention-deficit/hyperactivity disorder

scientific article published on 28 March 2002

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2.

scientific article

A humanized version of Foxp2 affects cortico-basal ganglia circuits in mice

scientific article (publication date: 29 May 2009)

A major susceptibility locus for leprosy in India maps to chromosome 10p13

scientific article published on 01 April 2001

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia

scientific article

A schizophrenia-associated HLA locus affects thalamus volume and asymmetry

scientific article

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.

scientific article published on 20 February 2018

A sibling-pair based approach for mapping genetic loci that influence quantitative measures of reading disability

scientific article

Absolute pitch exhibits phenotypic and genetic overlap with synesthesia

scientific article

Altered structural brain asymmetry in autism spectrum disorder in a study of 54 datasets

scientific article published on 31 October 2019

An aetiological Foxp2 mutation causes aberrant striatal activity and alters plasticity during skill learning

scientific article (publication date: November 2012)

Assessing the effects of common variation in the FOXP2 gene on human brain structure

scientific article published on July 2014

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

scientific article

Association analysis of dyslexia candidate genes in a Dutch longitudinal sample

scientific article published on 11 January 2017

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

scientific article published on 30 October 2019

Associations of HLA alleles with specific language impairment

scientific article published on 17 January 2014

Asymmetry within and around the human planum temporale is sexually dimorphic and influenced by genes involved in steroid hormone receptor activity

scientific article published on 7 August 2014

Attention deficit hyperactivity disorder: fine mapping supports linkage to 5p13, 6q12, 16p13, and 17p11.

scientific article

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published on 02 May 2019

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

scientific article published on 19 July 2016

Bivariate linkage scan for reading disability and attention-deficit/hyperactivity disorder localizes pleiotropic loci

scientific article published on 01 October 2005

Brain scans from 21,297 individuals reveal the genetic architecture of hippocampal subfield volumes

article by Dennis van der Meer et al published 2 October 2018 in Molecular Psychiatry

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

CMIP and ATP2C2 modulate phonological short-term memory in language impairment

scientific article published on 30 July 2009

CNTNAP2 variants affect early language development in the general population

scientific article

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

scientific article

Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis

scientific article published on June 1999

Common genetic variants influence human subcortical brain structures

scientific article

Common variants in left/right asymmetry genes and pathways are associated with relative hand skill

scientific article

Confirmatory evidence for linkage of relative hand skill to 2p12-q11

scientific article

Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila

scientific article published on 12 February 2019

Construction of two YAC contigs in human Xp11.23-p11.22, one encompassing the loci OATL1, GATA, TFE3, and SYP, the other linking DXS255 to DXS146.

scientific article

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

scientific article published on 01 March 2020

Correction: Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

scientific article published on 26 June 2015

De novo TBR1 mutations in sporadic autism disrupt protein functions

scientific article

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.

scientific article

Deciphering the genetic basis of speech and language disorders

scientific article

Decoding the genetics of speech and language

scientific article published on 07 December 2012

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

scientific article published on 14 February 2018

Defining the biological bases of individual differences in musicality

scientific article

Developmental Changes Within the Genetic Architecture of Social Communication Behavior: A Multivariate Study of Genetic Variance in Unrelated Individuals

scientific article published on 28 September 2017

Developmental dyslexia: genetic dissection of a complex cognitive trait

scientific article

Differences in cerebral cortical anatomy of left- and right-handers

scientific article published on 28 March 2014

Differential effects of Foxp2 disruption in distinct motor circuits

article

Disentangling polygenic associations between attention-deficit/hyperactivity disorder, educational attainment, literacy and language

scientific article published on 24 January 2019

Do Candidate Genes Affect the Brain's White Matter Microstructure? Large-Scale Evaluation of 6,165 Diffusion MRI Scans

article

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

scientific article published in April 2013

ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide

scientific article published on 4 December 2015

Early developmental gene enhancers affect subcortical volumes in the adult human brain

scientific article published on 18 February 2016

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

scientific article published on 11 December 2017

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

scientific article published on 25 July 2017

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Evaluation of results from genome-wide studies of language and reading in a novel independent dataset.

scientific article published on 20 May 2016

Evolution of language: Lessons from the genome

scientific article published on 18 July 2016

Evolution. Culture, genes, and the human revolution

scientific article

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment

scientific article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

FOXP2 as a molecular window into speech and language

scientific article (publication date: April 2009)

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

scientific article published on 22 July 2003

FOXP2 in focus: what can genes tell us about speech and language?

scientific article published in June 2003

FOXP2 targets show evidence of positive selection in European populations

scientific article published on 18 April 2013

FOXP2-Related Speech and Language Disorders

scientific article

Familial and genetic effects on motor coordination, laterality, and reading-related cognition

scientific article

Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: quantitative association analysis and positional candidate genes SEMA4F and OTX1.

scientific article

Foxp transcription factors suppress a non-pulmonary gene expression program to permit proper lung development

scientific article published on 21 June 2016

Foxp1/2/4 regulate endochondral ossification as a suppresser complex

scientific article

Foxp2 loss of function increases striatal direct pathway inhibition via increased GABA release

Foxp2 mutations impair auditory-motor association learning

scientific article

Foxp2 regulates anatomical features that may be relevant for vocal behaviors and bipedal locomotion

scientific article published on 13 August 2018

Foxp2 regulates gene networks implicated in neurite outgrowth in the developing brain

scientific article

Functional characterization of TBR1 variants in neurodevelopmental disorder

scientific article published in Scientific Reports

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

scientific article

Functional genetic analysis of mutations implicated in a human speech and language disorder

scientific article

G-protein genomic association with normal variation in gray matter density

scientific article published on 7 August 2015

Genes, Brain, and Language: A brief introduction to the Special Issue

scientific article published in September 2017

Genes, cognition and dyslexia: learning to read the genome

scientific article

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic linkage of attention-deficit/hyperactivity disorder on chromosome 16p13, in a region implicated in autism

scientific article published on 14 August 2002

Genetic susceptibility to stuttering

scientific article published on 10 February 2010

Genome-wide analysis identifies a role for common copy number variants in specific language impairment

scientific article

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.

scientific article

Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

scientific article published on 11 February 2019

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

scientific article published on 14 October 2020

Genome-wide scan of reading ability in affected sibling pairs with attention-deficit/hyperactivity disorder: unique and shared genetic effects

scientific article published on May 2004

Genome-wide screening for DNA variants associated with reading and language traits

scientific article

Greater male than female variability in regional brain structure across the lifespan

scientific article published on 12 October 2020

Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities

scientific article published on 28 October 2020

High-Resolution Comparative Mapping of the Proximal Region of the Mouse X Chromosome

article published in 1995

High-throughput analysis of promoter occupancy reveals direct neural targets of FOXP2, a gene mutated in speech and language disorders

scientific article

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

scientific article

Human Genetics: The Evolving Story of FOXP2

article

Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex.

scientific article published on 13 October 2016

Humanized Foxp2 accelerates learning by enhancing transitions from declarative to procedural performance

scientific article

Hypomethylation of the paternally inherited LRRTM1 promoter linked to schizophrenia

scientific article published on 11 August 2014

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder

scientific journal article

Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits

scientific article

Identification of the transcriptional targets of FOXP2, a gene linked to speech and language, in developing human brain

scientific article

Impaired synaptic plasticity and motor learning in mice with a point mutation implicated in human speech deficits

scientific article

Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia

scientific article

Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia

scientific article published on 17 December 2001

Insights into the genetic foundations of human communication

scientific article

Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer

scientific article published on 26 May 2014

Investigating the effects of copy number variants on reading and language performance

scientific article

Is synaesthesia more common in autism?

scientific article

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

scientific article

Localisation of a gene implicated in a severe speech and language disorder

scientific article

Loss of Intercalated Cells (ITCs) in the Mouse Amygdala of Tshz1 Mutants Correlates with Fear, Depression, and Social Interaction Phenotypes

scientific article

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

scientific article published in Nature Communications

Mapping Cortical Brain Asymmetry in 17,141 Healthy Individuals Worldwide via the ENIGMA Consortium

Mapping brain asymmetry in health and disease through the ENIGMA consortium

scientific article published on 18 May 2020

Mapping cortical brain asymmetry in 17,141 healthy individuals worldwide via the ENIGMA Consortium

article published in the Proceedings of the National Academy of Sciences of the United States of America

Mapping of Human FOXP2 Enhancers Reveals Complex Regulation.

scientific article published on 21 February 2018

Mapping the X chromosome breakpoint in two papillary renal cell carcinoma cell lines with a t(X;1)(p11.2;q21.2) and the first report of a female case.

scientific article published on January 1995

Measurement and genetics of human subcortical and hippocampal asymmetries in large datasets

scientific article

Modified sound-evoked brainstem potentials in Foxp2 mutant mice

scientific article published on 9 July 2009

Molecular cloning of the papillary renal cell carcinoma-associated translocation (X;1)(p11;q21) breakpoint.

scientific article published in January 1996

Molecular genetics of dyslexia: an overview

scientific article

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

scientific article

Molecular windows into speech and language disorders

scientific article published on January 2007

Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African-American youth

scientific article published on 17 April 2019

Multivariate genome-wide covariance analyses of literacy, language and working memory skills reveal distinct etiologies

scientific article published on 19 August 2021

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

scientific article published on 31 August 2020

Neandertal Introgression Sheds Light on Modern Human Endocranial Globularity

scientific article published on 13 December 2018

Neurogenomics of speech and language disorders: the road ahead

scientific article

Neuroimaging genetic analyses of novel candidate genes associated with reading and language

scientific article published on 27 July 2016

Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders

scientific article published on 14 March 2017

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

scientific article

No effect of schizophrenia risk genes MIR137, TCF4, and ZNF804A on macroscopic brain structure

scientific article

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

scientific article (publication date: 3 October 2016)

On Genes, Speech, and Language

article

On the other hand: including left-handers in cognitive neuroscience and neurogenetics.

scientific article published on 12 February 2014

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

scientific article published on 27 March 2017

Parent-of-origin effects on handedness and schizophrenia susceptibility on chromosome 2p12-q11.

scientific article

Patterns of Gray Matter Abnormalities in Schizophrenia Based on an International Mega-analysis

scientific article

Persistence and transmission of recessive deafness and sign language: new insights from village sign languages

scientific article published on 16 January 2013

Polygenic risk for mental disorder reveals distinct association profiles across social behaviour in the general population

scientific article published on 28 February 2022

Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13

scientific article published on 01 January 2006

Positional cloning of the gene responsible for dent's disease

doctoral thesis by Simon E. Fisher

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

scientific article

Putative functional alleles of DYX1C1 are not associated with dyslexia susceptibility in a large sample of sibling pairs from the UK

scientific article

Rare variants in axonogenesis genes connect three families with sound-color synesthesia

scientific article published on 5 March 2018

Recent advances in the genetics of language impairment

scientific article (publication date: 26 January 2010)

Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'

scientific article

Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp

scientific article

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

scientific article published on 28 April 2020

Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development.

scientific article published on 4 April 2017

Singing mice, songbirds, and more: models for FOXP2 function and dysfunction in human speech and language

scientific article

Structural asymmetries of the human cerebellum in relation to cerebral cortical asymmetries and handedness

scientific article published on 26 August 2016

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains

scientific article published in Scientific Reports

Tangled webs: tracing the connections between genes and cognition

scientific article published on 9 June 2006

The DISC1 promoter: characterization and regulation by FOXP2.

scientific article

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

scientific article

The FOXP1, FOXP2 and FOXP4 transcription factors are required for islet alpha cell proliferation and function in mice

scientific article published on 29 May 2015

The Forkhead Transcription Factor FOXP2 Is Required for Regulation of p21WAF1/CIP1 in 143B Osteosarcoma Cell Growth Arrest

scientific article published on 2 June 2015

The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder

scientific article

The eloquent ape: genes, brains and the evolution of language

scientific article

The genetic architecture of the human cerebral cortex

The genetic architecture of the human cerebral cortex

scientific article

The genetics of situs inversus without primary ciliary dyskinesia

scientific article published on 28 February 2020

The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers

scientific article

The structure of innate vocalizations in Foxp2-deficient mouse pups

scientific article

Toward Robust Functional Neuroimaging Genetics of Cognition

scientific article published on 30 September 2019

Ultrasonic vocalizations of adult male Foxp2-mutant mice: behavioral contexts of arousal and emotion

scientific article

Understanding Language from a Genomic Perspective

scientific article

Unravelling neurogenetic networks implicated in developmental language disorders

scientific article published in December 2009

Use of multivariate linkage analysis for dissection of a complex cognitive trait

scientific article

What can mice tell us about Foxp2 function?

scientific article