Monaco, Anthony P.

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., & Kunkel, L. M. (1987) · Cell

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 2,411

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

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 2,013

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

Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Monaco, A. P., & Pääbo, S. (2002) · Nature

Language and cultural evolutionGenetics and Neurodevelopmental Disorders

Cited by 1,603

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 969

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Zanaria, E., Muscatelli, F., Bardoni, B., Strom, T. M., Guioli, S., Guo, W., Lalli, E., Moser, C., Walker, A. P., McCabe, E. R. B., et al. (1994) · Nature

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 858

Cloning the gene for an inherited human disorder—chronic granulomatous disease—On the basis of its chromosomal location

Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature

Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune Disorders

Cited by 833

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C. S., O'Donovan, M., Craddock, N., et al. (1999) · Nature Genetics

Genetic and rare skin diseases.Skin and Cellular Biology Research

Cited by 740

A functional genetic link between distinct developmental language disorders

Vernes, S. C., Newbury, D. F., Abrahams, B. S., Winchester, L., Nicod, J., Groszer, M., Alarcón, M., Oliver, P. L., Davies, K. E., Geschwind, D. H., et al. (2008) · New England Journal of Medicine

Language Development and DisordersGenetics and Neurodevelopmental Disorders

Cited by 676

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

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

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 593

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 429

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

Anney, R., Klei, L., Pinto, D., Almeida, J., Bacchelli, E., Baird, G., Bolshakova, N., Bölte, S., Bolton, P. F., Bourgeron, T., et al. (2012) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 375

Self-injection of amphetamine directly into the brain

Hoebel, B. G., Monaco, A. P., Hernandez, L., Aulisi, E. F., Stanley, B. G., & Lenard, L. (1983) · Psychopharmacology

Neurotransmitter Receptor Influence on BehaviorNeural and Behavioral Psychology Studies

Cited by 367

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

Smalley, S. L., Kustanovich, V., Minassian, S. L., Stone, J. L., Ogdie, M. N., McGough, J. J., McCracken, J. T., MacPhie, I. L., Francks, C., Fisher, S. E., et al. (2002) · The American Journal of Human Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 240

A Genomewide Scan for Attention-Deficit/Hyperactivity Disorder in an Extended Sample: Suggestive Linkage on 17p11

Ogdie, M. N., Macphie, I. L., Minassian, S. L., Yang, M., Fisher, S. E., Francks, C., Cantor, R. M., McCracken, J. T., McGough, J. J., Nelson, S. F., et al. (2003) · The American Journal of Human Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 220

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

Casey, J. P., Magalhaes, T., Conroy, J. M., Regan, R., Shah, N., Anney, R., Shields, D. C., Abrahams, B. S., Almeida, J., Bacchelli, E., et al. (2012) · Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 200

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 193

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

IMGSAC, Maestrini, E., Pagnamenta, A. T., Lamb, J. A., Bacchelli, E., Sykes, N. H., Sousa, I., Toma, C., Barnby, G., Butler, H., et al. (2010) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 143

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

Horn, D., Kapeller, J., Rivera-Brugués, N., Moog, U., Lorenz-Depiereux, B., Eck, S., Hempel, M., Wagenstaller, J., Gawthrope, A., Monaco, A. P., et al. (2010) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 140

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

Pagnamenta, A. T., Bacchelli, E., de Jonge, M. V., Mirza, G., Scerri, T. S., Minopoli, F., Chiocchetti, A., Ludwig, K. U., Hoffmann, P., Paracchini, S., et al. (2010) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 139

Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects

Lamb, J. A., Barnby, G., Bonora, E., Sykes, N., Bacchelli, E., Blasi, F., Maestrini, E., Broxholme, J., Tzenova, J., Weeks, D., et al. (2005) · Journal of Medical Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 133

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

Bacchelli, E., Blasi, F., Biondolillo, M., Lamb, J. A., Bonora, E., Barnby, G., Parr, J., Beyer, K. S., Klauck, S. M., Poustka, A., et al. (2003) · Molecular Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 117

Prevention and Cure of Autoimmune Diabetes in Nonobese Diabetic Mice by Continuous Administration of FTY720

Maki, T., Gottschalk, R., Ogawa, N., & Monaco, A. P. (2005) · Transplantation

Diabetes and associated disordersT-cell and B-cell Immunology

Cited by 68

Familial and Genetic Effects on Motor Coordination, Laterality, and Reading-Related Cognition

Francks, C., Fisher, S. E., Marlow, A. J., MacPhie, I. L., Taylor, K. E., Richardson, A. J., Stein, J. F., & Monaco, A. P. (2003) · American Journal of Psychiatry

Reading and Literacy DevelopmentHemispheric Asymmetry in Neuroscience

Cited by 61