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List of works by Anthony Monaco

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

scientific article published on August 1993

7 Menkes and Wilson Diseases

A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene

article

A 15q13.3 microdeletion segregating with autism

scientific article

A 2-Mb YAC contig encompassing three loci (DXF34, DXS14, and DXS390) that lie between Xp11.2 translocation breakpoints associated with incontinentia pigmenti type 1.

scientific article published on April 1994

A 2.8 Mb YAC contig in 11q12-q13 localizes candidate genes for atopy: Fc epsilon RI beta and CD20.

scientific article published on May 1994

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 Golgi localization signal identified in the Menkes recombinant protein

scientific article published on August 1998

A common variant associated with dyslexia reduces expression of the KIAA0319 gene

scientific article

A contig of non-chimaeric YACs containing the spinal muscular atrophy gene in 5q13.

scientific article published on August 1993

A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma

scientific article

A dinucleotide repeat polymorphism at the DMD locus

scientific article published on March 1991

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

scientific article (publication date: June 2011)

A functional genetic link between distinct developmental language disorders

scientific article

A genome-wide scan for common alleles affecting risk for autism

scientific journal 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 giant locus for the Duchenne and Becker muscular dystrophy gene

article

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3.

scientific article

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

scientific article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

scientific article published on 14 October 2011

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

scientific article

A sequence-ready physical map of a region of 12q24.1.

scientific article

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

scientific article

A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12

scientific article published on 05 February 2009

A yeast artificial chromosome contig containing the complete Duchenne muscular dystrophy gene

scientific article

AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

scientific article published on 10 July 2018

Aberrant trafficking of transmembrane proteins in human disease

scientific article published on December 2003

Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface

scientific article

Activation of ADP-ribosylation factor regulates biogenesis of the ATP7A-containing trans-Golgi network compartment and its Cu-induced trafficking

article

Alternative splicing in the dyslexia-associated gene KIAA0319

scientific article

Amphetamine-induced overeating and overweight in rats

scientific article published on 01 January 1981

An epigenetic, transgenerational model of increased mental health disorders in children, adolescents and young adults

scientific article published on 18 September 2020

An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus

scientific article published on January 1988

Analysis of dyslexia candidate genes in the Raine cohort representing the general Australian population

scientific article

Analysis of reelin as a candidate gene for autism

scientific article

Analysis of the human VPS13 gene family

scientific article

Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.

scientific article published in October 1996

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

scientific article

Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12.

scientific article

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

scientific journal article

Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

scientific article

Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.

scientific article

Associations of HLA alleles with specific language impairment

scientific article published on 17 January 2014

Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3' to the SDC2 gene

scientific article

Autism. The search for susceptibility genes

scientific article published in December 2001

Autism: recent molecular genetic advances

scientific article

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

scientific article published on 01 October 2005

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

scientific article published on 30 July 2009

CNVs leading to fusion transcripts in individuals with autism spectrum disorder

scientific article (publication date: November 2012)

Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT

scientific article

Cell biology of membrane trafficking in human disease

scientific article published on January 2006

Characterisation of an inverted X chromosome (p11.2q21.3) associated with mental retardation using FISH.

scientific article

Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease

scientific article

Characterization of a YAC containing part or all of the Norrie disease locus

scientific article

Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia

scientific article

Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia

scientific article

Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

scientific article

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization

scientific article published on August 1999

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 ⬇️

scientific article published on October 1, 1997

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula

scientific article

Chorein detection for the diagnosis of chorea-acanthocytosis

scientific article published on August 2004

Choreoacanthocytosis in a Mexican family.

scientific article

Clinical features and molecular bases of neuroacanthocytosis

scientific article (publication date: August 2002)

Cloning of the HLA class II region in yeast artificial chromosomes

scientific article

Cloning the Wilson disease gene

scientific article published on 01 December 1993

Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.

scientific article published in January 1986

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

scientific article

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

article

Complete coverage of the Schizosaccharomyces pombe genome in yeast artificial chromosomes

scientific article

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

scientific article

Conservation of the Duchenne muscular dystrophy gene in mice and humans

scientific article published in October 1987

Construction and characterization of a 10-fold genome equivalent rat P1-derived artificial chromosome library

scientific article

Construction of a human X-chromosome-enriched phage library which facilitates analysis of specific loci

scientific article

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries ⬇️

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection

scientific article published on 22 April 2009

DCDC2, KIAA0319 and CMIP are associated with reading-related traits

scientific article

DNA linkage analysis of X chromosome-linked chronic granulomatous disease

scientific article published on May 1986

DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).

scientific article published in September 1994

Deciphering the genetic basis of speech and language disorders

scientific article

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy

scientific article

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

scientific article

Detection, breakpoint identification and detailed characterisation of a CNV at the FRA16D site using SNP assays

scientific article published on January 2008

Dinucleotide repeat polymorphisms from DXS106 and DXS227 YACs using a two stage approach

scientific article published on May 1993

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues

scientific article published on August 1992

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

Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome)

scientific article published on June 1990

Dystrophin, the protein product of the Duchenne/Becker muscular dystrophy gene

scientific article published on October 1989

Early Clinical Heterogeneity in Choreoacanthocytosis

article

Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters

scientific article published in October 1992

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

Familial Infantile Convulsions and Paroxysmal Choreoathetosis: A New Neurological Syndrome Linked to the Pericentromeric Region of Human Chromosome 16 ⬇️

scientific article published on October 1, 1997

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

scientific article

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis

scientific article published in August 2005

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

scientific article

Fine mapping of the human SCIDX1 locus at Xq12-13.1.

scientific article published on June 1993

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6.

scientific article

Four dinucleotide repeat polymorphisms at the D7S804 locus

scientific article published in December 1993

Functional impact of global rare copy number variation in autism spectrum disorders

scientific article published on 15 July 2010

Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

article

Generating subclones from large-insert genomic clones

scientific article

Generation of large insert yeast artificial chromosome libraries

scientific article

Genetic Advances in the Study of Speech and Language Disorders ⬇️

scientific article published on October 21, 2010

Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

scientific article published on 11 September 2013

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

scientific article

Genetic influences on language impairment and phonological short-term memory.

scientific article

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

scientific article published on 14 August 2002

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

scientific article

Genome analysis and the human X chromosome

scientific article published on October 1992

Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population ⬇️

scientific article

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

scientific article

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

Genomic studies of gene expression: regulation of the Wilson disease gene

scientific article published on June 2003

Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene

scientific article (publication date: February 2002)

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

article published in 1995

Human genetics: dissecting Williams syndrome

scientific article published on November 1996

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

scientific article

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

scientific article

Identification of YAC and cosmid clones encompassing the ZFX-POLA region using irradiation hybrid cell lines

scientific article published on March 1994

Identification of a VPS13A founder mutation in French Canadian families with chorea-acanthocytosis

scientific article

Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint

scientific article published on March 1993

Identification of a yeast artificial chromosome that spans the human papillary renal cell carcinoma-associated t(X;1) breakpoint in Xp11.2

scientific article published on 01 December 1993

Identification of candidate genes for dyslexia susceptibility on chromosome 18.

scientific article

Identifying autism susceptibility genes

scientific article

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

scientific article published on 17 December 2001

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.

scientific article

Isolation and characterization of a MAGE gene family in the Xp21.3 region

scientific article

Isolation of a candidate gene for Norrie disease by positional cloning

scientific article

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

scientific article

Isolation of new probes from Xq12-->q13: an example of the screening of reference libraries with Alu-PCR products from radiation hybrids

scientific article published on January 1, 1992

Isolation of the human sex determining region from a Y-enriched yeast artificial chromosome library

scientific article

Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing.

scientific article

Linkage and candidate gene studies of autism spectrum disorders in European populations

scientific article

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

scientific article

Links between genetics and pathophysiology in the autism spectrum disorders

scientific article

Localization of the synovial sarcoma t(X;18)(p11.2;q11.2) breakpoint by fluorescence in situ hybridization

scientific article published on November 1992

Localization of tub and uncoupling proteins (Ucp) 2 and 3 to a region of rat chromosome 1 linked to glucose intolerance and adiposity in the Goto-Kakizaki (GK) type 2 diabetic rat.

scientific article published in November 1998

MET and autism susceptibility: family and case-control studies

scientific article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

scientific article

Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products

scientific article

Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.

scientific article published in February 2009

McLeod neuroacanthocytosis: Genotype and phenotype ⬇️

scientific article (publication date: December 2001)

McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

article

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

scientific article

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

scientific article published on January 2002

Molecular cloning and analysis of the fragile X region in man

scientific article

Molecular evolution of FOXP2, a gene involved in speech and language

scientific article

Molecular genetic investigations of autism

scientific article published in October 1998

Molecular genetics of speech and language disorders

scientific article

Multivariate Linkage Analysis of Specific Language Impairment (SLI)

article

Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses ⬇️

scientific article published on September 1, 1997

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

scientific article

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

scientific article

Normal radial migration and lamination are maintained in dyslexia-susceptibility candidate gene homolog Kiaa0319 knockout mice.

scientific article

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase

scientific article published on November 2002

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

scientific article

Oxidised LDL internalisation by the LOX-1 scavenger receptor is dependent on a novel cytoplasmic motif and is regulated by dynamin-2.

scientific article published on 10 June 2008

PCSK6 is associated with handedness in individuals with dyslexia

scientific article

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

scientific article

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

scientific article

Reading and language disorders: the importance of both quantity and quality.

scientific article published on 4, Apr, 2014

Recent progress in the genetics of human epilepsies

scientific article

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region

scientific article

Retrofitting vectors for Escherichia coli-based artificial chromosomes (PACs and BACs) with markers for transfection studies

scientific article published on February 1997

SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample

scientific article

Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene

scientific article

Self-injection of amphetamine directly into the brain

scientific article published in January 1983

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study

scientific article

Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

scientific article published on July 1985

The Dyslexia-susceptibility Protein KIAA0319 Inhibits Axon Growth Through Smad2 Signaling

scientific article

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway

scientific article

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 UTX gene escapes X inactivation in mice and humans

scientific article

The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration

scientific article

The dyslexia candidate locus on 2p12 is associated with general cognitive ability and white matter structure

scientific article

The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with {gamma}-secretase-independent intramembrane cleavage

scientific article published on 13 October 2010

The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms

scientific article published on 6 December 2007

The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway

scientific article

The genetic basis of dyslexia

scientific article

The genetic lexicon of dyslexia

scientific article

The human 2',5'-oligoadenylate synthetase locus is composed of three distinct genes clustered on chromosome 12q24.2 encoding the 100-, 69-, and 40-kDa forms

scientific article

The isolation of cDNAs from OATL1 at Xp 11.2 using a 480-kb YAC.

scientific article published on May 1993

The neuronal migration hypothesis of dyslexia: A critical evaluation 30 years on

scientific article published on 06 October 2018

The neuronal migration hypothesis of dyslexia: a critical evaluation thirty years on

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22 ⬇️

scientific article published on 01 April 1995

Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps ⬇️

scientific article published on 17 April 2013

Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins

scientific article

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

scientific article

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms

scientific article

YACs, BACs, PACs and MACs: artificial chromosomes as research tools

scientific article published on July 1994

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA

scientific article

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