Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

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Music and Language Skills of Children with Williams Syndrome

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Evidence for superior parietal impairment in Williams syndrome

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Cytogenetic and molecular studies of a familial paracentric inversion of Y chromosome present in a patient with ambiguous genitalia

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Thyroid hemiagenesis and elevated thyrotropin levels in a child with Williams syndrome

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Foreshortened Dorsal Extension of the Central Sulcus in Williams Syndrome

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Expression Analysis and Protein Localization of the Human HPC-1/Syntaxin 1A, a Gene Deleted in Williams Syndrome

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Towards a Quantitative, Probabilistic Neuroanatomy of Cerebral Cortex

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Williams syndrome

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Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches

Mervis, C. Β., & Thurman, A. J. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30263 · Cited by 236 · see citing works

Association of Mouse Dlg4 (PSD-95) Gene Deletion and Human DLG4 Gene Variation With Phenotypes Relevant to Autism Spectrum Disorders and Williams' Syndrome

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Network Dysfunction in Alzheimer’s Disease and Frontotemporal Dementia: Implications for Psychiatry

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The Challenges and Promise of Neuroimaging in Psychiatry

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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

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Abnormal structure or function of the amygdala is a common component of neurodevelopmental disorders

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Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs

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Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development

Osborne, L. R., & Mervis, C. Β. (2007) · Expert Reviews in Molecular Medicine · doi:10.1017/s146239940700035x · Cited by 185 · see citing works

Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

Järvinen-Pasley, A., Bellugi, U., Reilly, J., MILLS, D. L., Galaburda, A., Reiss, A. L., & Korenberg, J. R. (2008) · Development and Psychopathology · doi:10.1017/s0954579408000011 · Cited by 177 · see citing works

Language and communicative development in Williams syndrome

Mervis, C. Β., & Becerra, A. M. (2007) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20140 · Cited by 167 · see citing works

Molecular chaperones: Multiple functions, pathologies, and potential applications

Alberto J., L. M. (2006) · Frontiers in bioscience · doi:10.2741/2257 · Cited by 153 · see citing works

Frontotemporal Dementia

Seeley, W. W., Zhou, J. H., & Kim, E. J. (2011) · The Neuroscientist · doi:10.1177/1073858411410354 · Cited by 147 · see citing works

Fear as a Disposition and an Emotional State: A Genetic and Environmental Approach to Out‐Group Political Preferences

Hatemi, P., McDermott, R., Eaves, L. J., Kendler, K. S., & Neale, M. C. (2013) · American Journal of Political Science · doi:10.1111/ajps.12016 · Cited by 140 · see citing works

Socio-Communicative Deficits in Young Children with Williams Syndrome: Performance on the Autism Diagnostic Observation Schedule

Klein-Tasman, B., Mervis, C. Β., Lord, C., & Phillips, K. D. (2006) · Child Neuropsychology · doi:10.1080/09297040601033680 · Cited by 129 · see citing works

The role of TGF-β superfamily signaling in neurological disorders

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Social rewards: From basic social building blocks to complex social behavior

Tamir, D. I., & Hughes, B. L. (2018) · Perspectives on Psychological Science · doi:10.1177/1745691618776263 · Cited by 109 · see citing works

Vocabulary Abilities of Children With Williams Syndrome: Strengths, Weaknesses, and Relation to Visuospatial Construction Ability

Mervis, C. Β., & Thurman, A. J. (2008) · Journal of Speech Language and Hearing Research · doi:10.1044/1092-4388(2008/071 · Cited by 111 · see citing works

A review of neuroimaging studies of race-related prejudice: does amygdala response reflect threat?

Chekroud, A. M., Everett, J. A. C., Bridge, H., & Hewstone, M. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00179 · Cited by 111 · see citing works

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

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Impact of prosocial neuropeptides on human brain function

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Is it Williams syndrome?GTF2IRD1implicated in visual–spatial construction andGTF2Iin sociability revealed by high resolution arrays

Dai, L., Bellugi, U., Chen, X. ‐., Pulst‐Korenberg, A. M., Järvinen‐Pasley, A., Tirosh‐Wagner, T., Eis, P. S., Graham, J. M., Mills, D. L., Searcy, Y. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32652 · Cited by 107 · see citing works

Are computational models of any use to psychiatry?

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Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice

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A theoretical molecular network for dyslexia: integrating available genetic findings.

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Executive functions in individuals with Williams syndrome

Menghini, D., Addona, F., Costanzo, F., & Vicari, S. (2010) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2010.01287.x · Cited by 99 · see citing works

Autism, language delay and mental retardation in a patient with 7q11 duplication

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Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

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Endophenotype Approach to Developmental Psychopathology: Implications for Autism Research

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Fragile X Syndrome: Assessment and Treatment Implications

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Syndromic autism: causes and pathogenetic pathways

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Diagnosis and management of medical problems in adults with Williams–Beuren syndrome

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Genetic causes of developmental disorders

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Attention-deficit/hyperactivity disorder and Williams syndrome: Shared behavioral and neuropsychological profiles

Rhodes, S., Riby, D. M., Matthews, K., & Coghill, D. (2010) · Journal of Clinical and Experimental Neuropsychology · doi:10.1080/13803395.2010.495057 · Cited by 80 · see citing works

Chaperonopathies by Defect, Excess, or Mistake

Macario, A. J. L., & de Macario, E. C. (2007) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1391.009 · Cited by 80 · see citing works

Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome

Marenco, S., Siuta, M., Kippenhan, J. S., Grodofsky, S. R., Chang, W.-L., Kohn, P. D., Mervis, C. Β., Morris, C. A., Weinberger, D. R., Meyer‐Lindenberg, A., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0704311104 · Cited by 76 · see citing works

Impact of Spaceflight and Artificial Gravity on the Mouse Retina: Biochemical and Proteomic Analysis

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Stress, Locus of Control, and Family Cohesion and Adaptability in Parents of Children with Down, Williams, Fragile X, and Prader-Willi Syndromes

Lanfranchi, S., & Vianello, R. (2012) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-117.3.207 · Cited by 73 · see citing works

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

Tebbenkamp, A. T. N., Varela, L., Choi, J., Paredes, M. I., Giani, A. M., Song, J. E., Šestan-Peša, M., Franjic, D., Sousa, A. M. M., Liu, Z.-W., et al. (2018) · Cell · doi:10.1016/j.cell.2018.09.014 · Cited by 71 · see citing works

LIMK1 Regulates Long-Term Memory and Synaptic Plasticity via the Transcriptional Factor CREB

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The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

Morris, C. A. (2010) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30286 · Cited by 72 · see citing works

The future of fMRI and genetics research

Meyer‐Lindenberg, A. (2011) · NeuroImage · doi:10.1016/j.neuroimage.2011.10.063 · Cited by 72 · see citing works

A Genetic Model for Understanding Higher Order Visual Processing: Functional Interactions of the Ventral Visual Stream in Williams Syndrome

Sarpal, D. K., Buchsbaum, B. R., Kohn, P. D., Kippenhan, J. S., Mervis, C. Β., Morris, C. A., Meyer‐Lindenberg, A., & Berman, K. F. (2008) · Cerebral Cortex · doi:10.1093/cercor/bhn004 · Cited by 70 · see citing works

Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

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Neurocognitive approaches to developmental disorders of numerical and mathematical cognition: The perils of neglecting the role of development

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Hormonal and Genetic Influences on Processing Reward and Social Information

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Anxiety disorders in children with Williams syndrome, their mothers, and their siblings: Implications for the etiology of anxiety disorders

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Regional Brain Differences in Cortical Thickness, Surface Area and Subcortical Volume in Individuals with Williams Syndrome

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Model syndromes for investigating social cognitive and affective neuroscience: a comparison of autism and Williams syndrome

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Affiliative behavior in Williams syndrome: social perception and real-life social behavior

Järvinen-Pasley, A., Adolphs, R., Yam, A., Hill, K. J., Grichanik, M., Reilly, J., Mills, D., Reiss, A. L., Korenberg, J. R., & Bellugi, U. (2010) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2010.03.032 · Cited by 63 · see citing works

Changes in prefrontal and amygdala activity during olanzapine treatment in schizophrenia

Blasi, G., Popolizio, T., Taurisano, P., Caforio, G., Romano, R., Giorgio, A. D., Sambataro, F., Rubino, V., Latorre, V., Bianco, L. L., et al. (2009) · Psychiatry Research Neuroimaging · doi:10.1016/j.pscychresns.2008.09.001 · Cited by 63 · see citing works

Beyond Discrete Categories: Studying Multiracial, Intersex, and Transgender Children Will Strengthen Basic Developmental Science

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Microtubule plus-end tracking proteins in differentiated mammalian cells

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Exploring face perception in disorders of development: evidence from Williams syndrome and autism.

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Object recognition in Williams syndrome: uneven ventral stream activation

O’Hearn, K. M., Roth, J. K., Courtney, S. M., Luna, B., Street, W. N., Terwillinger, R., & Landau, B. (2010) · Developmental Science · doi:10.1111/j.1467-7687.2010.01002.x · Cited by 59 · see citing works

The Ontogeny of Human Self-Consciousness

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RNA 5-Methylcytosine Modification: Regulatory Molecules, Biological Functions, and Human Diseases

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Individual differences in social behavior predict amygdala response to fearful facial expressions in Williams syndrome

Haas, B. W., Hoeft, F., Searcy, Y. M., Mills, D., Bellugi, U., & Reiss, A. (2010) · Neuropsychologia · doi:10.1016/j.neuropsychologia.2009.12.030 · Cited by 56 · see citing works

Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings

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Nature and nurture: Williams syndrome across cultures

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Roles of LIM kinases in central nervous system function and dysfunction

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Atypical sleep architecture and altered EEG spectra in Williams syndrome

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Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome

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The Williams syndrome chromosome 7q11.23 hemideletion confers hypersocial, anxious personality coupled with altered insula structure and function

Jabbi, M., Kippenhan, J. S., Kohn, P. D., Marenco, S., Mervis, C. Β., Morris, C. A., Meyer‐Lindenberg, A., & Berman, K. F. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114774109 · Cited by 52 · see citing works

The Evolution of Human Warfare

Pitman, G. R. (2010) · Philosophy of the Social Sciences · doi:10.1177/0048393110371380 · Cited by 51 · see citing works

An item analysis of Raven's Colored Progressive Matrices among participants with Down syndrome

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Spatial Mechanisms within the Dorsal Visual Pathway Contribute to the Configural Processing of Faces

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Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

Palmer, S. J., Tay, E. S. E., Santucci, N., Cuc Bach, T. T., Hook, J., Lemckert, F. A., Jamieson, R. V., Gunnning, P. W., & Hardeman, E. C. (2007) · Gene Expression Patterns · doi:10.1016/j.modgep.2006.11.008 · Cited by 49 · see citing works

Expression of the RNA methyltransferase Nsun5 is essential for developing cerebral cortex

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Dental-craniofacial manifestation and treatment of rare diseases

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Hyperactive auditory processing in Williams syndrome: Evidence from auditory evoked potentials

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A Direct Comparison of Local-Global Integration in Autism and other Developmental Disorders: Implications for the Central Coherence Hypothesis

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Morphological and molecular changes in aging rat prelimbic prefrontal cortical synapses

Bloss, E. B., Puri, R., Yuk, F., Punsoni, M., Hara, Y., Janssen, W. G. M., McEwen, B. S., & Morrison, J. H. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.05.014 · Cited by 48 · see citing works

Separate visual systems for perception and action: a framework for understanding cortical visual impairment

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Extracellular matrix and the mechanics of large artery development

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Mathematical skill in individuals with Williams syndrome: Evidence from a standardized mathematics battery

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Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams–Beuren Syndrome

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Growth Defects and Impaired Cognitive–Behavioral Abilities in Mice with Knockout for Eif4h, a Gene Located in the Mouse Homolog of the Williams-Beuren Syndrome Critical Region

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Implications of Visuospatial Skills and Executive Functions for Learning Mathematics

Kim, H., & Cameron, C. E. (2016) · AERA Open · doi:10.1177/2332858416675124 · Cited by 44 · see citing works

Abnormalities in neural processing of emotional stimuli in Williams syndrome vary according to social vs. non-social content

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Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population

Crespi, B. J., & Hurd, P. L. (2014) · BMC Neuroscience · doi:10.1186/s12868-014-0127-1 · Cited by 41 · see citing works

Developmental trajectories for spatial frames of reference in Williams syndrome

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Working memory impairment in people with Williams syndrome: Effects of delay, task and stimuli

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Epigenetics, genomic mutations and cognitive function

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Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome

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Sleep EEG fingerprints reveal accelerated thalamocortical oscillatory dynamics in Williams syndrome

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Intermediate or brainless phenotypes for psychiatric research?

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A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

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Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

Järvinen-Pasley, A., Bellugi, U., Reilly, J., MILLS, D. L., Galaburda, A., Reiss, A. L., & Korenberg, J. R. (2008) · Development and Psychopathology · doi:10.1017/s0954579408000011 · Cited by 177 · see citing works

Williams syndrome: recent developments

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Williams Syndrome: A Neurogenetic Model of Human Behavior

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Williams Syndrome: A Genetic Deletion Disorder Presenting Clues to the Biology of Sociability and Clinical Challenges of Hypersociability

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The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

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