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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.

Most cited papers, sortable by citations and release date
#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 Open access 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 Open access 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 Open access 15 Nov 2011 888
10 Mapping brain maturation Arthur W. Toga, Paul M. Thompson, Elizabeth R. Sowell · Trends in Neurosciences ReviewOpen access 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 Open access 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 Open access 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 Open access 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 Open access 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 Open access 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 Open access 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 Review 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 Open access 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 Open access 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 Open access 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.