Most cited papers in Williams Syndrome Research
What are the most cited papers in Williams Syndrome Research?
The most cited paper in Williams Syndrome Research is "The Weak Coherence Account: Detail-focused Cognitive Style in Autism Spectrum Disorders" (Francesca G. E. Happe, Uta Frith, 2006), with 2,906 citations. Next come "The Structure of Working Memory From 4 to 15 Years of Age." (1,816) and "New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy" (1,425).
Showing 50 of 102 papers. Every paper with more than 330 citations is listed.
| # | Paper | ||
|---|---|---|---|
| 1 | The Weak Coherence Account: Detail-focused Cognitive Style in Autism Spectrum Disorders Francesca G. E. Happe, Uta Frith · Journal of Autism and Developmental Disorders | 2006 | 2,906 |
| 2 | The Structure of Working Memory From 4 to 15 Years of Age. Susan Elizabeth Gathercole, Susan J. Pickering, Ben Ambridge et al. · Developmental Psychology | 23 Feb 2004 | 1,816 |
| 3 | New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy Christopher Semsarian, Jodie Ingles, Martin S. Maron et al. · Journal of the American College of Cardiology | Mar 2015 | 1,425 |
| 4 | Characterization of the early lesion of 'degenerative' valvular aortic stenosis. Histological and immunohistochemical studies. Catherine M Otto, Johanna Kuusisto, Dennis D. Reichenbach et al. · Circulation | Aug 1994 | 1,317 |
| 5 | Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism Stephan Sanders et al. · Neuron | Jun 2011 | 1,307 |
| 6 | Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome Amanda K. Ewart, Colleen A. Morris, Donald L. Atkinson et al. · Nature Genetics | Sep 1993 | 1,158 |
| 7 | Supravalvular Aortic Stenosis J. C. P. Williams, Brian G. Barratt‐Boyes, J. B. Lowe · Circulation | Dec 1961 | 1,072 |
| 8 | Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group Carolyn A. Bondy · The Journal of Clinical Endocrinology & Metabolism | 24 Oct 2006 | 1,017 |
| 9 | De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia George Kirov et al. · Molecular Psychiatry | 15 Nov 2011 | 888 |
| 10 | Mapping brain maturation Arthur W. Toga, Paul M. Thompson, Elizabeth R. Sowell · Trends in Neurosciences | 11 Feb 2006 | 870 |
| 11 | Minicolumnar pathology in autism Manuel Fernando Casanova, Daniel P. Buxhoeveden, Andrew E. Switala et al. · Neurology | 12 Feb 2002 | 851 |
| 12 | Williams–Beuren Syndrome Barbara R. Pober · New England Journal of Medicine | 20 Jan 2010 | 851 |
| 13 | Intellectual disability and its relationship to autism spectrum disorders Johnny L. Matson, Mary E. Shoemaker · Research in Developmental Disabilities | 15 Jul 2009 | 829 |
| 14 | Neuron Number and Size in Prefrontal Cortex of Children With Autism Eric Courchesne, Peter R. Mouton, Michael E. Calhoun et al. · JAMA | 8 Nov 2011 | 800 |
| 15 | Elastin is an essential determinant of arterial morphogenesis Dean Y. Li, Benjamin S. Brooke, Elaine C. Davis et al. · Nature | May 1998 | 793 |
| 16 | Prevalence Estimation of Williams Syndrome Petter Strømme, Per G. Bjømstad, Kjersti Ramstad · Journal of Child Neurology | Apr 2002 | 790 |
| 17 | Autism: Towards an Integration of Clinical, Genetic, Neuropsychological, and Neurobiological Perspectives Anthony J. Bailey, Wendy Phillips, Michael L. Rutter · Journal of Child Psychology and Psychiatry | 1996 | 778 |
| 18 | Epidemiology of autistic disorder and other pervasive developmental disorders. Eric J Fombonne · PubMed | 2005 | 778 |
| 19 | Patches of Disorganization in the Neocortex of Children with Autism Rich Stoner, Maggie L. Chow, Maureen P. Boyle et al. · New England Journal of Medicine | 26 Mar 2014 | 751 |
| 20 | Dendritic Anomalies in Disorders Associated with Mental Retardation Walter E. Kaufmann · Cerebral Cortex | Oct 2000 | 746 |
| 21 | The mismatch negativity (MMN): towards the optimal paradigm Risto Näätänen, Satu Pakarinen, Teemu Rinne et al. · Clinical Neurophysiology | 4 Dec 2003 | 740 |
| 22 | Handbook of infant development Patricia F. Vadasy · Topics in Early Childhood Special Education | Jul 1982 | 739 |
| 23 | I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses Ursula Bellugi, Liz Lichtenberger, Wendy Jones et al. · Journal of Cognitive Neuroscience | Mar 2000 | 718 |
| 24 | A Population-Based Study of the 22q11.2 Deletion: Phenotype, Incidence, and Contribution to Major Birth Defects in the Population Lorenzo D. Botto, Kristin M. May, Paul M. Fernhoff et al. · PEDIATRICS | Jul 2003 | 702 |
| 25 | Abnormal Spine Morphology and Enhanced LTP in LIMK-1 Knockout Mice Yanghong Meng, Yu Zhang, Vitali Tregoubov et al. · Neuron | Jul 2002 | 693 |
| 26 | Natural history of Williams syndrome: Physical characteristics Colleen A. Morris, Susan A. Demsey, Claire O. Leonard et al. · The Journal of Pediatrics | Aug 1988 | 678 |
| 27 | Behavioral phenotype of individuals with Down syndrome Robin S. Chapman, Linda J. Hesketh · Mental Retardation and Developmental Disabilities Research Reviews | 2000 | 663 |
| 28 | Localization of white matter volume increase in autism and developmental language disorder Martha R. Herbert, David A. Ziegler, Nikos Makris et al. · Annals of Neurology | 22 Mar 2004 | 661 |
| 29 | The evolving epidemiology of valvular aortic stenosis. The Tromsø Study Gry Wisthus Eveborn, Henrik Schirmer, Geir Heggelund et al. · Heart | 2 Sep 2012 | 655 |
| 30 | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size Marwan S. Shinawi et al. · Journal of Medical Genetics | 12 Nov 2009 | 608 |
| 31 | Speech and Prosody Characteristics of Adolescents and Adults With High-Functioning Autism and Asperger Syndrome Lawrence D. Shriberg, Rhea Paul, Jane L. McSweeny et al. · Journal of Speech Language and Hearing Research | Oct 2001 | 605 |
| 32 | LIM domains: multiple roles as adapters and functional modifiers in protein interactions Igor B. Dawid, Joseph J Breen, Reiko Toyama · Trends in Genetics | Apr 1998 | 601 |
| 33 | Abnormal Processing of Social Information from Faces in Autism Ralph Adolphs, Lonnie Sears, Joseph Piven · Journal of Cognitive Neuroscience | Feb 2001 | 594 |
| 34 | A componential view of theory of mind: evidence from Williams syndrome Helen B. Tager-Flusberg · Cognition | 14 Jul 2000 | 575 |
| 35 | LIM-kinase1 Hemizygosity Implicated in Impaired Visuospatial Constructive Cognition J.Michael Frangiskakis, Amanda K. Ewart, Colleen A. Morris et al. · Cell | Jul 1996 | 562 |
| 36 | Fluid intelligence after frontal lobe lesions John S. Duncan, Paul W. Burgess, Hazel C. Emslie · Neuropsychologia | Mar 1995 | 547 |
| 37 | Sentence comprehension in autism: thinking in pictures with decreased functional connectivity Rajesh K. Kana · Brain | 12 Jul 2006 | 530 |
| 38 | Language acquisition in autism spectrum disorders: A developmental review Inge‐Marie Eigsti, Ashley B. de Marchena, Jillian M. Schuh et al. · Research in Autism | 10 Oct 2010 | 516 |
| 39 | FOXP2 and the neuroanatomy of speech and language Faraneh Vargha‐Khadem, David G. Gadian, Andrew J. Copp et al. · Nature reviews. Neuroscience | Feb 2005 | 511 |
| 40 | II. Hypersociability in Williams Syndrome Wendy Jones, Ursula Bellugi, Zona C. Lai et al. · Journal of Cognitive Neuroscience | Mar 2000 | 509 |
| 41 | The four ages of Down syndrome Alan Holland Bittles, Carol I Bower, Rafat Hussain et al. · European Journal of Public Health | 20 Jul 2006 | 498 |
| 42 | Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance A. J. Beuren, Juergen Apitz, Dietrich Harmjanz · Circulation | Dec 1962 | 497 |
| 43 | A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke Daniel Fannar Gudbjartsson et al. · Nature Genetics | 13 Jul 2009 | 497 |
| 44 | Executive Function Abilities in Autism and Tourette Syndrome: An Information Processing Approach Sally J. Ozonoff, David L. Strayer, William M. McMahon et al. · Journal of Child Psychology and Psychiatry | Sep 1994 | 490 |
| 45 | Intact and Impaired Memory Functions in Autism Loisa Bennetto, Bruce F. Pennington, Sally J. Rogers · Child Development | Aug 1996 | 486 |
| 46 | Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype Marilee A. Martens, Sarah J. Wilson, David C. Reutens · Journal of Child Psychology and Psychiatry | 19 May 2008 | 485 |
| 47 | Convergent neuroanatomical and behavioural evidence of an amygdala hypothesis of autism Matthew A. Howard, Patricia E. Cowell, Jill Boucher et al. · Neuroreport | Sep 2000 | 484 |
| 48 | A clinical study of Noonan syndrome. Mike Sharland, Michael Burch, W M McKenna et al. · Archives of Disease in Childhood | Feb 1992 | 479 |
| 49 | Dependence of Thymus Development on Derivatives of the Neural Crest Dale E. Bockman, Margaret Loewy Kirby · Science | 3 Feb 1984 | 471 |
| 50 | Identifying neurocognitive phenotypes in autism Helen B. Tager-Flusberg, Robert M. Joseph · Philosophical Transactions of the Royal Society B Biological Sciences | 28 Feb 2003 | 464 |
Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for a field when OpenAlex files it under one of the field's topics; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.