Sage Journals: Discover world-class research

Abstract

Autism spectrum disorders and Williams syndrome exhibit quite opposite features in the social domain, but also share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of subjects with these two conditions. We found a significant overlap between differentially expressed genes compared to neurotypical controls, with most of them exhibiting a similar trend in both conditions, but with genes being more dysregulated in Williams syndrome than in autism spectrum disorders. These genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis.

Lay abstract

Autism spectrum disorders and Williams syndrome are complex cognitive conditions exhibiting quite opposite features in the social domain: whereas people with autism spectrum disorders are mostly hyposocial, subjects with Williams syndrome are usually reported as hypersocial. At the same time, autism spectrum disorders and Williams syndrome share some common underlying behavioral and cognitive deficits. It is not clear, however, which genes account for the attested differences (and similarities) in the socio-cognitive domain. In this article, we adopted a comparative molecular approach and looked for genes that might be differentially (or similarly) regulated in the blood of people with these conditions. We found a significant overlap between genes dysregulated in the blood of patients compared to neurotypical controls, with most of them being upregulated or, in some cases, downregulated. Still, genes with similar expression trends can exhibit quantitative differences between conditions, with most of them being more dysregulated in Williams syndrome than in autism spectrum disorders. Differentially expressed genes are involved in aspects of brain development and function (particularly dendritogenesis) and are expressed in brain areas (particularly the cerebellum, the thalamus, and the striatum) of relevance for the autism spectrum disorder and the Williams syndrome etiopathogenesis. Overall, these genes emerge as promising candidates for the similarities and differences between the autism spectrum disorder and the Williams syndrome socio-cognitive profiles.

Keywords

autism spectrum disorders dendritogenesis differentially expressed genes social cognition Williams syndrome

Get full access to this article

View all access options for this article.

References

Albig

Doenecke

(1998). The human histone gene cluster at the D6S105 locus. Human Genetics, 101(3), 284–294.

Al-Hakbany

Awadallah

AL-Ayadhi

(2014). The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A case control study. Autism Research and Treatment, 2014, Article 242048. https://doi.org/10.1155/2014/242048

Andari

Duhamel

J. R.

Zalla

Herbrecht

Leboyer

Sirigu

(2010). Promoting social behavior with oxytocin in high-functioning autism spectrum disorders. Proceedings of the National Academy of Sciences of the United States of America, 107, 4389–4394.

Asada

Itakura

(2012). Social phenotypes of autism spectrum disorders and Williams syndrome: Similarities and differences. Frontiers in Psychology, 3, Article 247.

Assaf

Jagannathan

Calhoun

V. D.

Miller

Stevens

M. C.

Sahl

O’Boyle

J. G.

Schultz

R. T.

Pearlson

G. D.

(2010). Abnormal functional connectivity of default mode sub-networks in autism spectrum disorder patients. NeuroImage, 53(1), 247–256.

Avery

S. N.

Thornton-Wells

T. A.

Anderson

A. W.

Blackford

J. U.

(2012). White matter integrity deficits in prefrontal-amygdala pathways in Williams syndrome. NeuroImage, 59, 887–894.

Azman

Starcevic Klasan

Ivanac

Picard

Jurisic-Erzen

Nikolic

Malnar

Arbanas

Jerkovic

(2011). Reg IV protein and mRNA expression in different rat organs. Acta Histochemica, 113(8), 793–797.

Barak

Feng

(2016). Neurobiology of social behavior abnormalities in autism and Williams syndrome. Nature Neuroscience, 19(6), 647–655.

Barak

Zhang

Liu

Nir

Trangle

S. S.

Ennis

Levandowski

K. M.

Wang

Quast

Boulting

G. L.

Bayarsaihan

Feng

(2019). Neuronal deletion of Gtf2i, associated with Williams syndrome, causes behavioral and myelin alterations rescuable by a remyelinating drug. Nature Neuroscience, 22(5), 700–708. https://doi.org/10.1038/s41593-019-0380-9

10.

Barnett

Yazgan

Kuo

H. C.

Malakar

Thomas

Fitzgerald

Harbour

Henry

J. J.

Krebs

J. E.

(2012). Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis. Mechanisms of Development, 129(9–12), 324–338.

11.

Baron-Cohen

Leslie

A. M.

Frith

(1985). Does the autistic child have a “theory of mind”? Cognition, 21(1), 37–46.

12.

Becker

E. B.

Stoodley

C. J.

(2013). Autism spectrum disorder and the cerebellum. International Review of Neurobiology, 113, 1–34.

13.

Bellugi

Adolphs

Cassady

Chiles

(1999). Towards the neural basis for hypersociability in a genetic syndrome. NeuroReport, 10, 1653–1657.

14.

Bellugi

Lichtenberger

Jones

Lai

StGeorge

(2000). The neurocognitive profile Of Williams syndrome: A complex pattern of strengths and weaknesses. Journal of Cognitive Neuroscience, 12(Suppl. 1), 7–29.

15.

Bellugi

Wang

Jernigan

(1994). Williams syndrome: An unusual neuropsychological profile. In Broman

Grafman

(Eds.), Atypical cognitive deficits in developmental disorders: Implications for brain function (pp. 23–56). Lawrence Erlbaum.

16.

Benítez-Burraco

(2000). Genes dysregulated in the blood of people with Williams syndrome are enriched in protein-coding genes positively selected in humans. European Journal of Medical Genetics, 63(4), Article 103828. https://doi.org/10.1016/j.ejmg.2019.103828

17.

Benjamini

Hochberg

(1995). Controlling the false discovery rate: A practical and powerful approach to multiple testing. Journal of the Royal Statistical Society. Series B (General) 57: 289–300.

18.

Bhatara

Quintin

E. M.

Levy

Bellugi

Fombonne

Levitin

D. J.

(2010). Perception of emotion in musical performance in adolescents with autism spectrum disorders. Autism Research, 3(5), 214–225.

19.

Bjørklund

Meguid

N. A.

El-Ansary

El-Bana

M. A.

Dadar

Aaseth

Hemimi

Osredkar

Chirumbolo

(2018). Diagnostic and severity-tracking biomarkers for autism spectrum disorder. Journal of Molecular Neuroscience, 66(4), 492–511.

20.

Bobeck

E. N.

Gomes

Pena

Cummings

K. A.

Clem

R. L.

Mezei

Devi

L. A.

(2017). The BigLEN-GPR171 peptide receptor system within the basolateral amygdala regulates anxiety-like behavior and contextual fear conditioning. Neuropsychopharmacology, 42(13), 2527–2536. https://doi.org/10.1038/npp.2017.79

21.

Bódizs

Gombos

Kovács

(2012). Sleep EEG fingerprints reveal accelerated thalamocortical oscillatory dynamics in Williams syndrome. Research in Developmental Disabilities, 33(1), 153–164.

22.

Booth

J. R.

Wood

Houk

J. C.

Bitan

(2007). The role of the basal ganglia and cerebellum in language processing. Brain Research, 1133(1), 136–144.

23.

Boyle

E. A.

Y. I.

Pritchard

J. K.

(2017). An expanded view of complex traits: From polygenic to omnigenic. Cell, 169(7), 1177–1186.

24.

Bressler

Mosley

T. H.

Penman

Gottesman

R. F.

Windham

B. G.

Knopman

D. S.

Wruck

L. M.

Boerwinkle

(2017). Genetic variants associated with risk of Alzheimer’s disease contribute to cognitive change in midlife: The Atherosclerosis Risk in Communities Study. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 174(3), 269–282. https://doi.org/10.1002/ajmg.b.32509

25.

Brock

(2007). Language abilities in Williams syndrome: A critical review. Development and Psychopathology, 19, 97–127.

26.

Byars

S. G.

Stearns

S. C.

Boomsma

J. J.

(2014). Opposite risk patterns for autism and schizophrenia are associated with normal variation in birth size: Phenotypic support for hypothesized diametric gene-dosage effects. Proceedings of the Royal Society B: Biological Sciences, 281, Article 20140604.

27.

Campbell

D. J.

Chang

Chawarska

(2014). Early generalized overgrowth in autism spectrum disorder: Prevalence rates, gender effects, and clinical outcomes. Journal of the American Academy of Child and Adolescent Psychiatry, 53, 1063–1073.

28.

Campbell

L. E.

Daly

Toal

Stevens

Azuma

Karmiloff-Smith

Murphy

D. G.

Murphy

K. C.

(2009). Brain structural differences associated with the behavioural phenotype in children with Williams syndrome. Brain Research, 1258, 96–107.

29.

Carvalho

C. M.

Vasanth

Shinawi

(2014). Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. American Journal of Human Genetics, 95(5), 565–578.

30.

Charman

Swettenham

Baron-Cohen

Cox

Baird

Drew

(1997). Infants with autism: An investigation of empathy, pretend play, joint attention, and imitation. Developmental Psychology, 33, 781–789.

31.

Charron

D. J.

McDevitt

H. O.

(1979). Analysis of HLA-D region-associated molecules with monoclonal antibody. Proceedings of the National Academy of Sciences of the United States of America, 76, 6567–6571.

32.

Chawarska

Campbell

Chen

Shic

Klin

Chang

(2011). Early generalized overgrowth in boys with autism. Archives of General Psychiatry, 68, 1021–1031.

33.

Cheetham

M. E.

Caplan

A. J.

(1998). Structure, function and evolution of DnaJ: Conservation and adaptation of chaperone function. Cell Stress and Chaperones, 3(1), 28–36.

34.

Chen

Jiang

Xie

Mei

Xia

Feng

(2010). Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochemical and biophysical research communications, 397(1), 70–74. https://doi.org/10.1016/j.bbrc.2010.05.066

35.

Chen

E. Y.

Tan

C. M.

Kou

Duan

Wang

Meirelles

G. V.

Clark

N. R.

Ma’ayan

(2013). Enrichr: Interactive and collaborative HTML5 gene list enrichment analysis tool. BMC Bioinformatics, 14, Article 128.

36.

Chen

Liu

Luan

Liu

Zhang

Liu

(2018). BMP-6 protects retinal pigment epithelial cells from oxidative stress-induced injury by inhibiting the MAPK signaling pathways. International Journal of Molecular Medicine, 42(2), 1096–1105. https://doi.org/10.3892/ijmm.2018.3675

37.

Chiang

M. C.

Reiss

A. L.

Lee

A. D.

Bellugi

Galaburda

A. M.

Korenberg

J. R.

Mills

D. L.

Toga

A. W.

Thompson

P. M.

(2007). 3D Pattern of brain abnormalities in Williams Syndrome visualized using tensor-based morphometry. NeuroImage, 364, 1096–1109.

38.

Chinen

Takahashi

Nakamura

(1996). Isolation and mapping of a human gene (SEC14L), partially homologous to yeast SEC14, that contains a variable number of tandem repeats (VNTR) site in its 3' untranslated region. Cytogenetic and Genome Research, 73(3), 218–223.

39.

Colobran

Pedrosa

Carretero-Iglesia

Juan

(2010). Copy number variation in chemokine superfamily: The complex scene of CCL3L-CCL4L genes in health and disease. Clinical and Experimental Immunology, 162(1), 41–52. https://doi.org/10.1111/j.1365-2249.2010.04224.x

40.

Courchesne

Campbell

Solso

(2011). Brain growth across the life span in autism: Age-specific changes in anatomical pathology. Brain Research, 1380, 138–145.

41.

Crespi

Badcock

(2008). Psychosis and autism as diametrical disorders of the social brain. Behavioral and Brain Sciences, 31, 241–320.

42.

Creutz

C. E.

Tomsig

J. L.

Snyder

S. L.

Gautier

M. C.

Skouri

Beisson

Cohen

(1998). The copines, a novel class of C2 domain-containing, calcium-dependent, phospholipid-binding proteins conserved from Paramecium to humans. Journal of Biological Chemistry, 273(3), 1393–1402.

43.

Dai

Carter

C. S.

Ying

Bellugi

Pournajafi-Nazarloo

Korenberg

J. R.

(2012.). Oxytocin and vasopressin are dysregulated in Williams syndrome: A genetic disorder affecting social behavior. PLOS ONE, 7, Article e38513.

44.

Davenport

E. C.

Szulc

B. R.

Drew

Taylor

Morgan

Higgs

N. F.

López-Doménech

Kittler

J. T.

(2019). Autism and schizophrenia-associated CYFIP1 regulates the balance of synaptic excitation and inhibition. Cell Reports, 26(8), 2037–2051.e6.

45.

David

Maess

Eckstein

Friederici

A. D.

(2011). Dynamic causal modeling of subcortical connectivity of language. The Journal of Neuroscience, 31(7), 2712–2717. https://doi.org/10.1523/JNEUROSCI.3433-10.2011

46.

De Rubeis

Goldberg

A. P.

Poultney

C. S.

Samocha

Cicek

A. E.

Kou

Liu

Fromer

Walker

Singh

Klei

Kosmicki

Shih-Chen

Aleksic

Biscaldi

Bolton

P. F.

Brownfeld

J. M.

Cai

. . . Buxbaum

J. D

. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 515(7526), 209–215. https://doi.org/10.1038/nature13772

47.

Deurloo

M. H. S.

Turlova

Chen

W. L.

Lin

Y. W.

Tam

Tassew

N. G.

Huang

Y. C.

Crawley

J. N.

Monnier

P. P.

Groffen

A. J. A.

Sun

H. S.

Osborne

L. R.

Feng

Z. P.

(2019). Transcription factor 2I regulates neuronal development via TRPC3 in 7q11.23 disorder models. Molecular Neurobiology, 56(5), 3313–3325.

48.

Diaz-Beltran

Esteban

F. J.

Wall

D. P.

(2016). A common molecular signature in ASD gene expression: Following Root 66 to autism. Translational Psychiatry, 6(1), Article e705. https://doi.org/10.1038/tp.2015.112

49.

Dichter

G. S.

Felder

J. N.

Green

S. R.

Rittenberg

A. M.

Sasson

N. J.

Bodfish

J. W.

(2012). Reward circuitry function in autism spectrum disorders. Social Cognitive and Affective Neuroscience, 7, 160–172.

50.

Diez-Itza

Martínez

Antón

(2016). Narrative competence in Spanish-speaking adults with Williams syndrome. Psicothema, 28(3), 291–297.

51.

Dimova

Dyson

(2005). The E2F transcriptional network: Old acquaintances with new faces. Oncogene, 24, 2810–2826. https://doi.org/10.1038/sj.onc.1208612

52.

Doll

Grzeschik

K. H.

(2001). Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams–Beuren syndrome. Cytogenetic Cell Genetics, 95, 20–27.

53.

Dong

Zielke

H. R.

Yeh

Yang

(2018). Cellular stress and apoptosis contribute to the pathogenesis of autism spectrum disorder. Autism Research, 11(7), 1076–1090.

54.

Doyle

T. F.

Bellugi

Korenberg

J. R.

Graham

(2004). “Everybody in the world is my friend”: Hypersociability in young children with Williams Syndrome. American Journal of Medical Genetics, 124A, 263–273.

55.

Dykens

E. M.

(2003). Anxiety, fears and phobias in persons with Williams syndrome. Developmental Neuropsychology, 23, 291–316.

56.

Fachim

H. A.

Srisawat

Dalton

C. F.

Reynolds

G. P.

(2018). Parvalbumin promoter hypermethylation in postmortem brain in schizophrenia. Epigenomics, 10(5), 519–524. https://doi.org/10.2217/epi-2017-0159

57.

Fein

Dunn

M. A.

Allen

D. M.

Aram

Hall

Morris

(1996). Neuropsychological and language findings. In Rapin

(Ed.), Preschool children with inadequate communication: Developmental language disorder, autism, low IQ (pp. 123–154). MacKeith Press.

58.

Fishman

Yam

Bellugi

Lincoln

Mills

(2011). Contrasting patterns of language-associated brain activity in autism and Williams syndrome. Social Cognitive and Affective Neuroscience, 6(5), 630–638.

59.

Fountain

M. D.

Oleson

D. S.

Rech

M. E.

Segebrecht

Hunter

J. V.

McCarthy

J. M.

Lupo

P. J.

Holtgrewe

Moran

Rosenfeld

J. A.

Isidor

Le Caignec

Saenz

M. S.

Pedersen

R. C.

Morgan

T. M.

Pfotenhauer

J. P.

Xia

Kang

S. L.

. . . Schaaf

C. P.

(2019). Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genetics in Medicine, 21(8), 1797–1807. https://doi.org/10.1038/s41436-019-0433-1

60.

Freeman

Dake

(1996). Teach me language: A language manual for children with autism, Asperger’s syndrome and related developmental disorders. Langley.

61.

Freese

J. L.

Pino

Pleasure

S. J.

(2010). Wnt signaling in development and disease. Neurobiology of Disease, 38(2), 148–153. https://doi.org/10.1016/j.nbd.2009.09.003

62.

Fujiwara

Matsui

T. S.

Ohashi

Mizuno

Deguchi

(2019). Keratin-binding ability of the N-terminal Solo domain of Solo is critical for its function in cellular mechanotransduction. Genes to Cells, 24(5), 390–402.

63.

Fukumoto

Hashimoto

Ito

Nishimura

Tsuda

Miyazaki

(2008). Growth of head circumference in autistic infants during the first year of life. Journal of Autism and Developmental Disorders, 38, 411–418.

64.

Gao

Wang

Shangguan

Bao

Zou

Dai

Liu

Zhang

(2018). Quantitative measurement of PARD3 copy number variations in human neural tube defects. Cellular and Molecular Neurobiology, 38(3), 605–614. https://doi.org/10.1007/s10571-017-0506-0

65.

Garland

Quraishe

French

O’Connor

(2008). Expression of the MAST family of serine/threonine kinases. Brain Research, 1195, 12–19. https://doi.org/10.1016/j.brainres.2007.12.027

66.

Gastgeb

H. Z.

Strauss

M. S.

Minshew

N. J.

(2006). Do individuals with autism process categories differently? The effect of typicality and development. Child Development, 77, 1717–1729.

67.

Geschwind

G. H.

State

M. W.

(2015). Gene hunting in autism spectrum disorder: On the path to precision medicine. Lancet Neurology, 14, 1109–1120.

68.

Gesundheit

Rosenzweig

J. P.

Naor

Lerer

Zachor

D. A.

Procházka

Melamed

Kristt

D. A.

Steinberg

Shulman

Hwang

Koren

Walfisch

Passweg

J. R.

Snowden

J. A.

Tamouza

Leboyer

Farge-Bancel

Ashwood

(2013). Immunological and autoimmune considerations of Autism Spectrum Disorders. Journal of Autoimmunity, 44, 1–7.

69.

Ghaffari

Tahmasebi Birgani

Kariminejad

Saberi

(2018). Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome. Annals of Human Genetics, 82(6), 469–476.

70.

Gilbert

Man

H. Y.

(2017). Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. Frontiers in Cellular Neuroscience, 11, Article 359.

71.

Gluderer

Brunner

Germann

Jovaisaite

Rentsch

C. A.

Hafen

Stocker

(2010). Madm (Mlf1 adapter molecule) cooperates with Bunched A to promote growth in Drosophila. Journal of Biology, 9(1), Article 9. https://doi.org/10.1186/jbiol216

72.

Goddard

M. N.

van Rijn

Rombouts

S. A. R. B

. (2016). White matter microstructure in a genetically defined group at increased risk of autism symptoms, and a comparison with idiopathic autism: An exploratory study. Brain Imaging and Behavior, 10, 1280–1288.

73.

Golarai

Hong

Haas

B. W.

Galaburda

A. M.

Mills

D. L.

Bellugi

Grill-Spector

Reiss

A. L.

(2010). The fusiform face area is enlarged in Williams syndrome. Journal of Neuroscience, 19, 6700–6712.

74.

Gonzalez-Brito

M. R.

Bixby

J. L.

(2009). Protein tyrosine phosphatase receptor type O regulates development and function of the sensory nervous system. Molecular and Cellular Neuroscience, 42(4), 458–465. https://doi.org/10.1016/j.mcn.2009.09.009

75.

Goriounov

Leung

C. L.

Liem

R. K. H.

(2003). Protein products of human Gas2-related genes on chromosomes 17 and 22 (hGAR17 and hGAR22) associate with both microfilaments and microtubules. Journal of Cell Science, 116, 1045–1058.

76.

Gotts

S. J.

Simmons

W. K.

Milbury

L. A.

Wallace

G. L.

Cox

R. W.

Martin

(2012). Fractionation of social brain circuits in autism spectrum disorders. Brain, 135, 2711–2725.

77.

Grabowski

Zimprich

Lorenz-Depiereux

Grabowski

Zimprich

Lorenz-Depiereux

Kalscheuer

Asmus

Gasser

Meitinger

Strom

(2003). The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. European Journal of Human Genetics, 11(2), 138–144. https://doi.org/10.1038/sj.ejhg.5200938

78.

Graham

J. M.

Rosner

Dykens

Visootsak

(2005). Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. American Journal of Medical Genetics, 133, 240–247.

79.

Guo

Hirschhorn

Dauber

(2018). Insights and implications of genome-wide association studies of height. The Journal of Clinical Endocrinology & Metabolism, 103(9), 3155–3168.

80.

Gyawali

Patra

B. N.

(2019). Autism spectrum disorder: Trends in research exploring etiopathogenesis. Psychiatry and Clinical Neurosciences, 73(8), 466–475.

81.

Haas

Barnea-Goraly

Sheau

Yamagata

Ullas

Reiss

(2013). Altered microstructure within social-cognitive brain networks during childhood in Williams syndrome. Cerebral Cortex, 24, 2796–2806.

82.

Haas

B. W.

Sheau

Kelley

R. G.

Thompson

P. M.

Reiss

A. L.

(2012). Regionally specific increased volume of the amygdala in Williams’s syndrome: Evidence from surface-based modeling. Human Brain Mapping, 35, 866–874.

83.

Haas

B. W.

Smith

A. K.

(2015). Oxytocin, vasopressin, and Williams syndrome: Epigenetic effects on abnormal social behavior. Frontiers in Genetics, 6, Article 28.

84.

Hampson

D. R.

Blatt

G. J.

(2015). Autism spectrum disorders and neuropathology of the cerebellum. Frontiers in Neuroscience, 9, Article 420.

85.

Hapak

S. M.

Rothlin

C. V.

Ghosh

(2018). PAR3-PAR6-atypical PKC polarity complex proteins in neuronal polarization. Cellular and Molecular Life Sciences, 75(15), 2735–2761. https://doi.org/10.1007/s00018-018-2828-6

86.

Happé

F. G. E.

(1997). Central coherence and theory of mind in autism: Reading homographs in context. British Journal of Developmental Psychology, 15(Pt 1), 1–12.

87.

Happé

F. G. E.

Frith

(1996). The neuropsychology of autism. Brain, 119, 1377–1400.

88.

Hashemi

Ariza

Rogers

Noctor

S. C.

Martínez-Cerdeño

(2017). The Number of parvalbumin-expressing interneurons is decreased in the prefrontal cortex in autism. Cerebral Cortex, 27(3), 1931–1943. https://doi.org/10.1093/cercor/bhw021

89.

Henrichsen

C. N.

Csárdi

Zabot

M. T.

Fusco

Bergmann

Merla

Reymond

(2011). Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome. PLOS Computational Biology, 7(1), Article e1001054.

90.

Hohman

T. J.

Koran

M. E.

Thornton-Wells

T. A.

; for the Alzheimer’s Neuroimaging Initiative. (2014). Genetic variation modifies risk for neurodegeneration based on biomarker status. Frontiers in Aging Neuroscience, 6, Article 183. https://doi.org/10.3389/fna.2014.00183

91.

Homman-Ludiye

Kwan

W. C.

de Souza

M. J.

Rodger

Bourne

J. A.

(2017). Ephrin-A2 regulates excitatory neuron differentiation and interneuron migration in the developing neocortex. Scientific Reports, 7, Article 11813.

92.

Humphray

S. J.

Oliver

Hunt

A. R.

Plumb

R. W.

Loveland

J. E.

Howe

K. L.

Andrews

T. D.

Searle

Hunt

S. E.

Scott

C. E.

Jones

M. C.

Ainscough

Almeida

J. P.

Ambrose

K. D.

Ashwell

R. I.

Babbage

A. K.

Babbage

Bagguley

C. L.

Bailey

. . . Dunham

(2004). DNA sequence and analysis of human chromosome 9. Nature, 429(6990), 369–374.

93.

Hwang

J. Y.

Yan

Zukin

R. S.

(2019). Autophagy and synaptic plasticity: Epigenetic regulation. Current Opinion in Neurobiology, 59, 207–212.

94.

Ikeda

Yoshino

(2018). Nitric oxide augments single persistent Na(+) channel currents via the cGMP/PKG signaling pathway in Kenyon cells isolated from cricket mushroom bodies. Journal of Neurophysiology, 120(2), 720–728. https://doi.org/10.1152/jn.00440.2017

95.

Ikeda

Nakanishi

Miyoshi

Mandai

Ishizaki

Tanaka

Togawa

Takahashi

Nishioka

Yoshida

Mizoguchi

Nishikawa

Takai

(1999). Afadin: A key molecule essential for structural organization of cell-cell junctions of polarized epithelia during embryogenesis. The Journal of Cell Biology, 146(5), 1117–1132. https://doi.org/10.1083/jcb.146.5.1117

96.

Isozaki

Sakai

Kohiro

Kagoshima

Iwamura

Sato

Rindner

Fujiwara

Yamashita

Mizuno

Ohashi

(2020). The Rho-guanine nucleotide exchange factor Solo decelerates collective cell migration by modulating the Rho-ROCK pathway and keratin networks. Molecular Biology of the Cell, 31, 725–857.

97.

Jaakkola

Savunen

Halme

Uitto

Peltonen

(1993). Basement membranes during development of human nerve: Schwann cells and perineurial cells display marked changes in their expression profiles for laminin subunits and beta 1 and beta 4 integrins. Journal of Neurocytology, 22(3), 215–230.

98.

Jackowski

A. P.

Rando

Maria

Araújo

Del Cole

C. G.

Silva

Tavares

Lacerda

A. L.

(2009). Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings. European Journal of Paediatric Neurology, 13(4), 305–316.

99.

Jackson

B. C.

Carpenter

Nebert

D. W.

Vasiliou

(2010). Update of human and mouse forkhead box (FOX) gene families. Human Genomics, 4(5), 345–352.

100.

Jacobs

F. M.

van der Linden

A. J.

Wang

von Oerthel

Sul

H. S.

Burbach

J. P.

Smidt

M. P.

(2009). Identification of Dlk1, Ptpru and Klhl1 as novel Nurr1 target genes in meso-diencephalic dopamine neurons. Development, 136(14), 2363–2373.

101.

Jakobson

C. M.

Jarosz

D. F.

(2019). Molecular origins of complex heritability in natural genotype-to-phenotype relationships. Cell Systems, 8(5), 363–379.

102.

Järvinen

Korenberg

J. R.

Bellugi

(2013). The social phenotype of Williams syndrome. Current Opinion in Neurobiology, 23(3), 414–422.

103.

Järvinen

Bellugi

(2015). Autonomic response to approachability characteristics, approach behavior, and social functioning in Williams syndrome. Neuropsychologia, 78, 159–170.

104.

Järvinen-Pasley

Wallace

G. L.

Ramus

Happé

Heaton

(2008). Enhanced perceptual processing of speech in autism. Developmental Science, 11(1), 109–121.

105.

Jawaid

Riby

D. M.

Owens

White

S. W.

Tarar

Schulz

P. E.

(2012). “Too withdrawn” or “too friendly”: Considering social vulnerability in two neuro-developmental disorders. Journal of Intellectual Disability Research, 56(4), 335–350.

106.

Jernigan

T. L.

Bellugi

(1990). Anomalous brain morphology on magnetic resonance images in Williams syndrome and Down syndrome. Archives of Neurology, 47(5), 529–533.

107.

Jernigan

T. L.

Bellugi

Sowell

Doherty

Hesselink

J. R.

(1993). Cerebral morphologic distinctions between Williams and Down syndromes. Archives of Neurology, 50, 186–191.

108.

T. H.

Grossmann

(1998). G protein-coupled receptors I: Diversity of receptor-ligand interactions. Journal of Biological Chemistry, 273, 17299–17302. https://doi.org/10.1074/jbc.273.28.17299

109.

Joensuu

Lanoue

Hotulainen

(2018). Dendritic spine actin cytoskeleton in autism spectrum disorder. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 84(Pt B), 362–381.

110.

Jones

Bellugi

Lai

Chiles

Reilly

Lincoln

Adolphs

(2000). II. Hypersociability in Williams Syndrome. Journal of cognitive neuroscience, 12(Suppl 1), 30–46. https://doi.org/10.1162/089892900561968

111.

Jung

E. M.

Moffat

J. J.

Liu

Dravid

S. M.

Gurumurthy

C. B.

Kim

W. Y.

(2017). Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nature Neuroscience, 20(12), 1694–1707. https://doi.org/10.1038/s41593-017-0013-0

112.

Karmiloff-Smith

Broadbent

Farran

E. K.

Longhi

D’Souza

Metcalfe

Tassabehji

Senju

Happé

Turnpenny

Sansbury

(2012). Social cognition in Williams syndrome: Genotype/phenotype insights from partial deletion patients. Frontiers in Psychology, 3, Article 168.

113.

Kato

Iwayama

Kakiuchi

Iwamoto

Yamada

Minabe

Nakamura

Mori

Fujii

Nanko

Yoshikawa

(2005). Gene expression and association analyses of LIM (PDLIM5) in bipolar disorder and schizophrenia. Molecular Psychiatry, 10(11), 1045–1055.

114.

Keil

Schulz

Hatzfeld

(2013). p0071/PKP4, a multifunctional protein coordinating cell adhesion with cytoskeletal organization. Biological Chemistry, 394(8), 1005–1017. https://doi.org/10.1515/hsz-2013-0114

115.

Kennedy

D. P.

Adolphs

(2012). The social brain in psychiatric and neurological disorders. Trends in Cognitive Sciences, 16(11), 559–572.

116.

Kenny

Cormican

Furlong

Heron

Kenny

Fahey

Kelleher

Ennis

Tropea

Anney

Corvin

A. P.

Donohoe

Gallagher

Gill

Morris

D. W.

(2014). Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. Molecular Psychiatry, 19, 872–879. https://doi.org/10.1038/mp.2013.127

117.

Kessler

Wobst

Wolf

Eckhold

Vilne

Hollstein

von Ameln

Dang

T. A.

Sager

H. B.

Moritz Rumpf

Aherrahrou

Kastrati

Björkegren

J. L. M.

Erdmann

Lusis

A. J.

Civelek

Kaiser

F. J.

Schunkert

(2017). Functional characterization of the GUCY1A3 coronary artery disease risk locus. Circulation, 136(5), 476–489. https://doi.org/10.1161/CIRCULATIONAHA.116.024152

118.

Khurana

Henty

J. L.

Huang

Staiger

A. M.

Blanchoin

Staiger

C. J.

(2010). Arabidopsis VILLIN1 and VILLIN3 have overlapping and distinct activities in actin bundle formation and turnover. The Plant Cell, 22(8), 2727–2748. https://doi.org/10.1105/tpc.110.076240

119.

Kim

Ährlund-Richter

Wang

Deisseroth

Carlén

(2016). Prefrontal parvalbumin neurons in control of attention. Cell, 164(1–2), 208–218. https://doi.org/10.1016/j.cell.2015.11.038

120.

Kimura

Swarup

Tomiwa

Gandal

M. J.

Parikshak

N. N.

Funabiki

Nakata

Awaya

Kato

Iida

Okazaki

Matsushima

Kato

Murai

Heike

Geschwind

D. H.

Hagiwara

(2019). Integrative network analysis reveals biological pathways associated with Williams syndrome. Journal of Child Psychology and Psychiatry, 60(5), 585–598.

121.

Klein-Tasman

B. P.

Phillips

K. D.

Lord

Mervis

C. B.

Gallo

F. J.

(2009). Overlap with the autism spectrum in young children with Williams syndrome. Journal of Developmental and Behavioral Pediatrics, 30(4), 289–299.

122.

Klein-Tasman

B. P.

van der Fluit

Mervis

C. B.

(2018). Autism spectrum symptomatology in children with Williams syndrome who have phrase speech or fluent language. Journal of Autism and Developmental Disorders 48(9), 3037–3050.

123.

Klin

Sparrow

S. S.

de Bildt

Cicchetti

D. V.

Cohen

D. J.

Volkmar

F. R.

(1999). A normed study of face recognition in autism and related disorders. Journal of Autism and Developmental Disorders, 29(6), 499–508.

124.

Kobayashi

Etoh

Ohbayashi

Fukuda

(2014). Rab35 promotes the recruitment of Rab8, Rab13 and Rab36 to recycling endosomes through MICAL-L1 during neurite outgrowth. Biology Open, 3(9), 803–814. https://doi.org/10.1242/bio.20148771

125.

Korenberg

J. R.

Chen

X. N.

Hirota

Lai

Bellugi

Burian

Roe

Matsuoka

(2000). Genome structure and cognitive map of Williams syndrome. Journal of Cognitive Neuroscience, 12(Suppl. 1), 89–107.

126.

Kotz

S. A.

Schwartze

Schmidt-Kassow

(2009). Non-motor basal ganglia functions: A review and proposal for a model of sensory predictability in auditory language perception. Cortex, 45(8), 982–990.

127.

Krcmery

Camarata

Kulisz

Simon

H. G.

(2010). Nucleocytoplasmic functions of the PDZ-LIM protein family: new insights into organ development. BioEssays: news and reviews in molecular, cellular and developmental biology, 32(2), 100–108. https://doi.org/10.1002/bies.200900148

128.

Krishnan

Zhang

Yao

Theesfeld

C. L.

Wong

A. K.

Tadych

Volfovsky

Packer

Lash

Troyanskaya

O. G.

(2016). Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. Nature Neuroscience, 19, 1454–1462. https://doi.org/10.1038/nn.4353

129.

Krumm

Turner

T. N.

Baker

Vives

Mohajeri

Witherspoon

Raja

Coe

B. P.

Stessman

H. A.

Z.-X.

Leal

S. M.

Bernier

Eichler

E. E

. (2015). Excess of rare, inherited truncating mutations in autism. Nature Genetics, 47(6), 582–588. https://doi.org/10.1038/ng.3303

130.

Kuleshov

M. V.

Jones

M. R.

Rouillard

A. D.

Fernandez

N. F.

Duan

Wang

Koplev

Jenkins

S. L.

Jagodnik

K. M.

Lachmann

McDermott

M. G.

Monteiro

C. D.

Gundersen

G. W.

Ma’ayan

(2016). Enrichr: A comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Research, 44(W1), W90–W97.

131.

Lacroix

Famelart

Guidetti

(2016). Language and emotional abilities in children with Williams syndrome and children with autism spectrum disorder: Similarities and differences. Pediatric Health, Medicine and Therapeutics, 7, 89–97.

132.

Lacroix

Guidetti

Rogé

Reilly

(2009). Recognition of emotional and nonemotional facial expressions: A comparison between Williams syndrome and autism. Research in Developmental Disabilities, 30(5), 976–985.

133.

Lalli

M. A.

Jang

Park

J. H.

Wang

Guzman

Zhou

Audouard

Bridges

Tovar

K. R.

Papuc

S. M.

Tutulan-Cunita

A. C.

Huang

Budisteanu

Arghir

Kosik

K. S.

(2016). Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways. Human Molecular Genetics, 25, 1294–1306.

134.

Lauber

Filice

Schwaller

(2018). Dysregulation of parvalbumin expression in the Cntnap2-/- mouse model of autism spectrum disorder. Frontiers in Molecular Neuroscience, 11, Article 262. https://doi.org/10.3389/fnmol.2018.00262

135.

Laws

Bishop

(2004). Pragmatic language impairment and social deficits in Williams syndrome: A comparison with Down’s syndrome and specific language impairment. International Journal of Language & Communication Disorders, 39(1), 45–64.

136.

Lee

J. A.

(2012). Neuronal autophagy: A housekeeper or a fighter in neuronal cell survival? Experimental Neurobiology, 21(1), 1–8.

137.

Lee

S. A.

Huang

K. C.

(2016). Epigenetic profiling of human brain differential DNA methylation networks in schizophrenia. BMC Medical Genomics, 9(Suppl. 3), Article 68. https://doi.org/10.1186/s12920-016-0229-y

138.

Levy-Shraga

Gothelf

Pinchevski-Kadir

Katz

Modan-Moses

(2018). Endocrine manifestations in children with Williams-Beuren syndrome. Acta Paediatrica, 107(4), 678–684.

139.

Liu

W. A.

Chen

Lee

C. H.

Mirzaa

Dobyns

W. B.

Ross

M. E.

Zhang

Shi

S. H.

(2018). PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes & Development, 32(11-12), 763–780. https://doi.org/10.1101/gad.313171.118

140.

Liu

Fan

Zhang

Chen

(2017). Genetics implicate common mechanisms in autism and schizophrenia: Synaptic activity and immunity. Journal of Medical Genetics, 54(8), 511–520.

141.

Liu

J. T.

Wang

H. F.

Hao

X. K.

Yang

Y. F.

Jiang

Zhu

X. C.

Cao

Zhang

D. Q.

Tan

(2014). Association between NME8 locus polymorphism and cognitive decline, cerebrospinal fluid and neuroimaging biomarkers in Alzheimer’s disease. PLOS ONE, 9(12), Article e114777. https://doi.org/10.1371/journal.pone.0114777

142.

Lombardo

Chakrabarti

Bullmore

Sadek

Pasco

Wheelwright

Suckling

, MRC AIMS Consortium, & Baron-Cohen

(2010). Atypical neural self-representation in autism. Brain, 133(2), 611–624.

143.

Lopes

J. S.

Abril-de-Abreu

Oliveira

R. F.

(2015). Brain transcriptomic response to social eavesdropping in Zebrafish (Danio rerio). PLOS ONE, 10(12), Article e0145801.

144.

Lough

Hanley

Rodgers

South

Kirk

Kennedy

D. P.

Riby

D. M.

(2015). Violations of personal space in young people with autism spectrum disorders and Williams Syndrome: Insights from the Social Responsiveness Scale. Journal of Autism and Developmental Disorders, 45(12), 4101–4108.

145.

Lough

K. J.

Byrd

K. M.

Spitzer

D. C.

Williams

S. E.

(2017). Closing the gap: Mouse models to study adhesion in secondary palatogenesis. journal of Dental Research, 96(11), 1210–1220. https://doi.org/10.1177/0022034517726284

146.

Lynch

C. J.

Uddin

L. Q.

Supekar

Khouzam

Phillips

Menon

(2013). Default mode network in childhood autism: Posteromedial cortex heterogeneity and relationship with social deficits. Biological Psychiatry, 74(3), 212–219.

147.

Malenfant

Liu

Hudson

M. L.

Qiao

Hrynchak

Riendeau

Hildebrand

Cohen

I. L.

Chudley

A. E.

Forster-Gibson

Mickelson

E. C. R.

Rajcan-Separovic

Suzanne Lewis

M. E.

Holden

J. J. A.

(2012). Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders. Journal of Autism and Developmental Disorders, 42, 1459–1469.

148.

Mandal

Stanco

Buys

E. S.

Enikolopov

Rubenstein

J. L.

(2013). Soluble guanylate cyclase generation of cGMP regulates migration of MGE neurons. The Journal of Neuroscience, 33(43), 16897–16914. https://doi.org/10.1523/JNEUROSCI.1871-13.2013

149.

Mariën

Borgatti

(2018). Language and the cerebellum. Handbook of Clinical Neurology, 154, 181–202.

150.

Markandona

Dafopoulos

Anifandis

Messini

C. I.

Dimitraki

Tsezou

Georgoulias

Messinis

I. E.

(2015). Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility. Journal of Assisted Reproduction and Genetics, 32(12), 1795–1799. https://doi.org/10.1007/s10815-015-0594-z

151.

Martens

M. A.

Wilson

S. J.

Dudgeon

Reutens

D. C.

(2009). Approachability and the amygdala: Insights from Williams syndrome. Neuropsychologia, 47(12), 2446–2453.

152.

Martin

L. A.

Iceberg

Allaf

(2017). Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder. Brain and Behavior, 8(1), Article e00895.

153.

Martínez-Cerdeño

(2017). Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models. Developmental Neurobiology, 77(4), 393–404.

154.

Martinez-De Luna

R. I.

R. Y.

Lyou

Zuber

M. E

. (2013). Maturin is a novel protein required for differentiation during primary neurogenesis. Developmental Biology, 384(1), 26–40. https://doi.org/10.1016/j.ydbio.2013.09.028

155.

Matson

J. L.

Nebel-Schwalm

M. S.

(2007). Comorbid psychopathology with autism spectrum disorder in children: An overview. Research in Developmental Disabilities, 28(4), 341–352.

156.

Maud

Ryan

McIntosh

J. E.

Olsson

C. A.

(2018). The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: A systematic narrative review. BMC Psychiatry, 18(1), Article 154.

157.

Mbagwu

S. I.

Filgueira

(2020). Differential expression of CD31 and Von Willebrand factor on endothelial cells in different regions of the human brain: Potential implications for cerebral malaria pathogenesis. Brain Sciences, 10(1), Article E31. https://doi.org/10.3390/brainsci10010031

158.

McAlonan

G. M.

Suckling

Wong

Cheung

Lienenkaemper

Cheung

Chua

S. E.

(2008). Distinct patterns of grey matter abnormality in high-functioning autism and Asperger’s syndrome. Journal of Child Psychology and Psychiatry, 49(12), 1287–1295.

159.

McIlwain

D. R.

Berger

Mak

T. W.

(2015). Caspase functions in cell death and disease. Cold Spring Harbor Perspectives in Biology, 7(4), Article a026716. https://doi.org/10.1101/cshperspect.a026716

160.

Meng

Zhang

Tregoubov

Janus

Cruz

Jackson

W. Y.

MacDonald

J. F.

Wang

J. Y.

Falls

D. L.

Jia

(2002). Abnormal spine morphology and enhanced LTP in LIMK-1 knockout mice. Neuron, 35(1), 121–133.

161.

Merla

Ucla

Guipponi

Reymond

(2002). Identification of additional transcripts in the Williams–Beuren syndrome critical region. Human Genetics, 110, 429–438.

162.

Mervis

C. B.

Becerra

A. M.

(2007). Language and communicative development in Williams syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13(1), 3–15.

163.

Mervis

C. B.

Dida

Lam

Crawford-Zelli

N. A.

Young

E. J.

Henderson

D. R.

Onay

Morris

C. A.

Woodruff-Borden

Yeomans

Osborne

L. R.

(2012). Duplication of GTF2I results in separation anxiety in mice and humans. American Journal of Human Genetics, 90(6), 1064–1070. https://doi.org/10.1016/j.ajhg.2012.04.012

164.

Mervis

C. B.

Klein-Tasman

B. P.

Mastin

M. E.

(2001). Adaptive behavior of 4- through 8-year-old children with Williams syndrome. American Journal of Mental Retardation, 106(1), 82–93.

165.

Meyer-Lindenberg

Hariri

A. R.

Munoz

K. E.

Mervis

C. B.

Mattay

V. S.

Morris

C. A.

Berman

K. F.

(2005). Neural correlates of genetically abnormal social cognition in Williams syndrome. Nature Neuroscience, 8(8), 991–993.

166.

Miki

Okada

Hirokawa

(2005). Analysis of the kinesin superfamily: Insights into structure and function. Trends in Cell Biology, 15(9), 467–476.

167.

Mills

J. L.

Hediger

M. L.

Molloy

C. A.

Chrousos

G. P.

Manning-Courtney

K. F.

Brasington

England

L. J.

(2007). Elevated levels of growth-related hormones in autism and autism spectrum disorder. Clinical Endocrinol, 67(2), 230–237.

168.

Mobbs

Eckert

M. A.

Mills

Korenberg

Bellugi

Galaburda

A. M.

Reiss

A. L.

(2007). Frontostriatal dysfunction during response inhibition in Williams syndrome. Biological Psychiatry, 62(3), 256–261.

169.

Morris

C. A.

Demsey

S. A.

Leonard

C. O.

Dilts

Blackburn

B. L.

(1998). Natural history of Williams syndrome: Physical characteristics. Journal of Pediatrics, 113, 318–326.

170.

Mulherkar

Firozi

Huang

Uddin

M. D.

Grill

R. J.

Costa-Mattioli

Robertson

Tolias

K. F.

(2017). RhoA-ROCK inhibition reverses synaptic remodeling and motor and cognitive deficits caused by traumatic brain injury. Scientific Reports, 7(1), Article 10689.

171.

Murdoch

B. E.

(2010). The cerebellum and language: Historical perspective and review. Cortex, 46(7), 858–868.

172.

Murphy

Benítez-Burraco

(2017). Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account. Neuroscience & Biobehavioral Reviews, 83, 742–764.

173.

Navarro

Martínez-Pinilla

Sánchez-Melgar

Ortiz

Noé

Martín

Ciudad

Franco

(2017). A genomics approach identifies selective effects of trans-resveratrol in cerebral cortex neuron and glia gene expression. PLOS ONE, 12(4), Article e0176067. https://doi.org/10.1371/journal.pone.0176067

174.

Needleman

L. A.

McAllister

A. K.

(2012). The major histocompatibility complex and autism spectrum disorder. Developmental Neurobiology, 72(10), 1288–1301.

175.

Neira-Fresneda

Potocki

(2015). Neurodevelopmental disorders associated with abnormal gene dosage: Smith-Magenis and Potocki-Lupski syndromes. Journal of Pediatric Genetics, 4(3), 159–167. https://doi.org/10.1055/s-0035-1564443

176.

Neugebauer

J. M.

Yost

H. J.

(2014). FGF signaling is required for brain left-right asymmetry and brain midline formation. Developmental Biology, 386(1), 123–134. https://doi.org/10.1016/j.ydbio.2013.11.020

177.

Newschaffer

C. J.

Croen

L. A.

Daniels

Giarelli

Grether

J. K.

Levy

S. E.

Mandell

D. S.

Miller

L. A.

Pinto-Martin

Reaven

Reynolds

A. M.

Rice

C. E.

Schendel

Windham

G. C.

(2007). The epidemiology of autism spectrum disorders. Annual Review of Public Health, 28, 235–258.

178.

Nickl-Jockschat

Rottschy

Thommes

Schneider

Laird

A. R.

Fox

P. T.

Eickhoff

S. B.

(2015). Neural networks related to dysfunctional face processing in autism spectrum disorder. Brain Structure and Function, 220(4), 2355–2371.

179.

Niego

Benítez-Burraco

(2020). Autism and Williams Syndrome: Truly mirror conditions in the socio-cognitive domain? Journal of Intellectual Disability Research. Advance online publication. https://doi.org/10.1080/20473869.2020.1817717

180.

Nir

Barak

(2020). White matter alterations in Williams syndrome related to behavioral and motor impairments. Glia. Advance online publication. https://doi.org/10.1002/glia.23868

181.

Nudel

Benros

M. E.

Krebs

M. D.

Allesøe

R. L.

Lemvigh

C. K.

Bybjerg-Grauholm

Børglum

A. D.

Daly

M. J.

Nordentoft

Mors

Hougaard

D. M.

Mortensen

P. B.

Buil

Werge

Rasmussen

Thompson

W. K.

(2019). Immunity and mental illness: Findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders. European Journal of Human Genetics, 27(9), Article 1445. https://doi.org/10.1038/s41431-019-0402-9

182.

O’Brien

N. L.

Fiorentino

Curtis

Rayner

Petrosellini

Al Eissa

Bass

N. J.

McQuillin

Sharp

S. I.

(2018). Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITGΒ4 gene in schizophrenia and bipolar disorder. Schizophrenia Research, 199, 181–188. https://doi.org/10.1016/j.schres.2018.03.001

183.

O’Hearn

Roth

J. K.

Courtney

S. M.

Luna

Street

Terwillinger

(2011). Object recognition in Williams syndrome: Uneven ventral stream activation. Developmental Science, 14, 549–565.

184.

Oguchi

M. E.

Noguchi

Fukuda

(2017). TBC1D12 is a novel Rab11-binding protein that modulates neurite outgrowth of PC12 cells. PLOS ONE, 124, Article e0174883. https://doi.org/10.1371/journal.pone.0174883

185.

Osório

Soares

J. M.

Prieto

M. F.

Vasconcelos

Fernandes

Sousa

Carracedo

Gonçalves

O. F.

Sampaio

(2014). Cerebral and cerebellar MRI volumes in Williams syndrome. Research in Developmental Disabilities, 35(4), 922–928.

186.

Pankau

Partsch

C. J.

Gosch

Oppermann

H. C.

Wessel

(1992). Statural growth in Williams-Beuren syndrome. European Journal of Pediatrics, 151, 751–755.

187.

Pannecoeck

Serruys

Benmeridja

Delanghe

J. R.

van Geel

Speeckaert

M. M.

(2015). Vascular adhesion protein-1: Role in human pathology and application as a biomarker. Critical Reviews in Clinical Laboratory Sciences, 52(6), 284–300. https://doi.org/10.3109/10408363.2015.1050714

188.

Peall

K. J.

Dijk

J. M.

Saunders-Pullman

Dreissen

Y. E.

van Loon

Cath

Kurian

M. A.

Owen

M. J.

Foncke

E. M.

Morris

H. R.

Gasser

Bressman

Asmus

Tijssen

M. A.

(2015). Psychiatric disorders, myoclonus dystonia and SGCE: An international study. Annals of Clinical and Translational Neurology, 3(1), 4–11.

189.

Peedicayil

Grayson

D. R.

(2018a). An epigenetic basis for an omnigenic model of psychiatric disorders. Journal of Theoretical Biology, 443, 52–55.

190.

Peedicayil

Grayson

D. R.

(2018b). Some implications of an epigenetic-based omnigenic model of psychiatric disorders. Journal of Theoretical Biology, 452, 81–84.

191.

Perovic

Modyanova

Wexler

(2013). Comparison of grammar in neurodevelopmental disorders: The case of binding in Williams syndrome and autism with and without language impairment. Language Acquisition, 20(2), 133–154.

192.

Perovic

Wexler

(2007). Complex grammar in Williams syndrome. Clinical Linguistics and Phonetics, 21, 729–745.

193.

Philofsky

Fidler

D. J.

Hepburn

(2007). Pragmatic language profiles of school-age children with autism spectrum disorders and Williams syndrome. American Journal of Speech-Language Pathology, 16(4), 368–380.

194.

Pinto

Pagnamenta

A. T.

Klei

Anney

Merico

Regan

Conroy

Magalhaes

T. R.

Correia

Abrahams

B. S.

Almeida

Bacchelli

Bader

G. D.

Bailey

A. J.

Baird

Battaglia

Berney

Bolshakova

Bölte

. . . Betancur

(2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466(7304), 368–372. https://doi.org/10.1038/nature09146

195.

Pires

C. F.

Rosa

F. F.

Kurochkin

Pereira

C. F.

(2019). Understanding and modulating immunity with cell reprogramming. Frontiers in Immunology, 10, Article 2809. https://doi.org/10.3389/fimmu.2019.02809

196.

Pober

B. R.

(2010). Williams-Beuren syndrome. New England Journal of Medicine, 362, 239–252.

197.

Ponsuksili

Zebunke

Murani

(2015). Integrated genome-wide association and hypothalamus eQTL studies indicate a link between the circadian rhythm-related gene PER1 and coping behavior. Scientific Reports, 5, Article 16264.

198.

Procyshyn

T. L.

Spence

Read

Watson

N. V.

Crespi

B. J.

(2017). The Williams syndrome prosociality gene GTF2I mediates oxytocin reactivity and social anxiety in a healthy population. Biology Letters, 13(4), Article 20170051. https://doi.org/10.1098/rsbl.2017.0051

199.

Puangpetch

Suwannarat

Chamnanphol

Koomdee

Ngamsamut

Limsila

Sukasem

(2015). Significant association of HLA-B alleles and genotypes in Thai children with autism spectrum disorders: A case-control study. Disease Markers, 2015, Article 724935. https://doi.org/10.1155/2015/724935

200.

Puche

J. E.

Castilla-Cortázar

(2012). Human conditions of insulin-like growth factor-I (IGF-I) deficiency. Journal of Translational Medicine, 10, Article 224.

201.

Puglia

M. H.

Connelly

J. J.

Morris

J. P.

(2018). Epigenetic regulation of the oxytocin receptor is associated with neural response during selective social attention. Translational Psychiatry, 8(1), Article 116.

202.

Puls

K. L.

Liu

Morahan

Wright

M. D.

(1999). The molecular characterisation of a novel tetraspanin protein, TM4-B(1). Biochimica et Biophysica Acta, 1447(1), 93–99.

203.

Ramírez

V. T.

Ramos-Fernández

Henríquez

J. P.

Lorenzo

Inestrosa

N. C.

(2016). Wnt-5a/Frizzled9 receptor signaling through the Gαo-Gβγ complex regulates dendritic spine formation. Journal of Biological Chemistry, 291(36), 19092–19107.

204.

Raznahan

Wallace

G. L.

Antezana

Greenstein

Lenroot

Thurm

(2013). Compared to what? Early brain overgrowth in autism and the perils of population norms. Biological Psychiatry, 74, 563–575.

205.

Reilly

Losh

Bellugi

Wulfeck

(2004). “Frog, where are you?” Narratives in children with specific language impairment, early focal brain injury, and Williams syndrome. Brain and Language, 88, 229–247.

206.

Reiss

A. L.

Eckert

M. A.

Rose

F. E.

Karchemskiy

Kesler

Chang

Reynolds

M. F.

Kwon

Galaburda

(2004). An experiment of nature: Brain anatomy parallels cognition and behavior in Williams syndrome. Journal of Neuroscience, 24(21), 5009–5015.

207.

Reiss

A. L.

Eliez

Schmitt

J. E.

Straus

Lai

Jones

Bellugi

(2000). Neuroanatomy of Williams syndrome: A high-resolution MRI study. Journal of Cognitive Neuroscience, 12(Suppl. 1), 65–73.

208.

Rhodes

Riby

D. M.

Park

Fraser

Campbell

L. E.

(2010). Neuropsychological functioning and executive control in WS. Neuropsychologia, 48, 1216–1226.

209.

Riby

D. M.

Hancock

P. J.

(2008). Viewing it differently: Social scene perception in Williams syndrome and autism. Neuropsychologia, 46(11), 2855–2860.

210.

Riby

D. M.

Hancock

P. J.

(2009). Do faces capture the attention of individuals with Williams syndrome or autism? Evidence from tracking eye movements. Journal of Autism and Developmental Disorders, 39(3), 421–431.

211.

Riby

D. M.

Jones

Brown

P. H.

Robinson

L. J.

Langton

S. R. H.

Bruce

Riby

L. M.

(2011). Attention to faces in Williams syndrome. Journal of Autism and Developmental Disorders, 41, 1228–1239.

212.

Rice

A. M.

McLysaght

(2017). Dosage-sensitive genes in evolution and disease. BMC Biology, 15(1), Article 78. https://doi.org/10.1186/s12915-017-0418-y

213.

Rodgers

Riby

D. M.

Janes

Connolly

McConachie

(2012). Anxiety and repetitive behaviours in autism spectrum disorders and Williams syndrome: A cross-syndrome comparison. Journal of Autism and Developmental Disorders, 42(2), 175–180.

214.

Rollins

Martin

M. V.

Morgan

Vawter

M. P.

(2010). Analysis of whole genome biomarker expression in blood and brain. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 153B(4), 919–936.

215.

Rose

F. E.

Lincoln

A. J.

Lai

Ene

Searcy

Y. M.

Bellugi

(2007). Orientation and affective expression effects on face recognition in Williams syndrome and autism. Journal of Autism and Developmental Disorders, 37, 513–522.

216.

Rosen

T. E.

Mazefsky

C. A.

Vasa

R. A.

Lerner

M. D.

(2018). Co-occurring psychiatric conditions in autism spectrum disorder. International Review of Psychiatry, 30(1), 40–61.

217.

Rosenthal

S. L.

Kamboh

M. I.

(2014). Late-onset Alzheimer’s disease genes and the potentially implicated pathways. Current Genetic Medicine Reports, 2, 85–101.

218.

Royston

Howlin

Waite

Oliver

(2017). Anxiety disorders in Williams Syndrome contrasted with intellectual disability and the general population: A systematic review and meta-analysis. Journal of Autism and Developmental Disorders, 47(12), 3765–3777.

219.

Sacco

Gabriele

Persico

A. M.

(2015). Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis. Psychiatry Research, 234, 239–251.

220.

Sampaio

Moreira

P. S.

Osório

Magalhães

Vasconcelos

Férnandez

Carracedo

Alegria

Gonçalves

Ó. F.

Soares

J. M.

(2016). Altered functional connectivity of the default mode network in Williams syndrome: A multimodal approach. Developmental Science, 19(4), 686–695.

221.

Sanders

S. J.

Ercan-Sencicek

A. G.

Hus

Luo

Murtha

M. T.

Moreno-De-Luca

Chu

S. H.

Moreau

M. P.

Gupta

A. R.

Thomson

S. A.

Mason

C. E.

Bilguvar

Celestino-Soper

P. B. S.

Choi

Crawford

E. L.

Davis

Wright

N. D. R.

Dhodapkar

R. M.

DiCola

. . . State

M. W.

(2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70, 863–885.

222.

Sarret

Ashkavand

Paules

Dorboz

Pediaditakis

Sumner

Eymard-Pierre

Francannet

Krupenko

N. I.

Boespflug-Tanguy

Krupenko

S. A.

(2019). Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome. NPJ Genomic Medicine, 4, Article 17. https://doi.org/10.1038/s41525-019-0092-9

223.

Schäffner

Minakaki

Khan

M. A.

Balta

E. A.

Schlötzer-Schrehardt

Schwarz

T. J.

Beckervordersandforth

Winner

Webb

A. E.

DePinho

R. A.

Paik

Wurst

Klucken

Lie

D. C.

(2018). FoxO function is essential for maintenance of autophagic flux and neuronal morphogenesis in adult neurogenesis. Neuron, 99(6), 1188–1203.e6. https://doi.org/10.1016/j.neuron.2018.08.017

224.

Schmitt

J. E.

Eliez

Warsofsky

I. S.

Bellugi

Reiss

A. L.

(2001). Enlarged cerebellar vermis in Williams syndrome. Journal of Psychiatric Research, 35(4), 225–229.

225.

Schuetze

Park

M. T.

Cho

I. Y.

MacMaster

F. P.

Chakravarty

M. M.

Bray

S. L.

(2016). Morphological alterations in the thalamus, striatum, and pallidum in autism spectrum disorder. Neuropsychopharmacology, 41(11), 2627–2637.

226.

Schultz

R. T.

(2005). Developmental deficits in social perception in autism: The role of the amygdala and fusiform face area. International Journal of Developmental Neuroscience, 23, 125–141.

227.

Schwaller

Meyer

Schiffmann

(2002). “New” functions for “old” proteins: The role of the calcium-binding proteins calbindin D-28k, calretinin and parvalbumin, in cerebellar physiology. Studies with knockout mice. Cerebellum, 1(4), 241–258.

228.

Shang

Liu

Chen

Shi

Wang

Liu

Cao

(2015). A parvalbumin-positive excitatory visual pathway to trigger fear responses in mice. Science, 348(6242), 1472–1477. https://doi.org/10.1126/science.aaa8694

229.

Shen

Feng

Zhang

Chen

Gao

Chen

Lin

Iqbal

Zhao

Wang

(2019). Proteomics Study of peripheral blood mononuclear cells (PBMCs) in autistic children. Frontiers in Cellular Neuroscience, 13, Article 105.

230.

Shi

Potash

J. B.

Knowles

J. A.

Weissman

M. M.

Coryell

Scheftner

W. A.

Lawson

W. B.

DePaulo

J. R.

Jr. Gejman

P. V.

Sanders

A. R.

Johnson

J. K.

Adams

Chaudhury

Jancic

Evgrafov

Zvinyatskovskiy

Ertman

Gladis

Neimanas

. . . Levinson

D. F.

(2011). Genome-wide association study of recurrent early-onset major depressive disorder. Molecular Psychiatry, 16(2), 193–201. https://doi.org/10.1038/mp.2009.124

231.

Smirnov

Cappello

Lena

A. M.

Anemona

Mauriello

Di Daniele

Annicchiarico-Petruzzelli

Melino

Candi

(2018). ZNF185 is a p53 target gene following DNA damage. Aging, 10(11), 3308–3326. https://doi.org/10.18632/aging.101639

232.

Smyth

G. K.

(2005) Limma: Linear models for microarray data. In: Gentleman

Carey

Dudoit

Irizarry

Huber

(Eds.), Bioinformatics and computational biology solutions using R and Bioconductor (pp. 397–420). Springer, New York.

233.

Stinton

Elison

Howlin

(2010). Mental health problems in adults with Williams syndrome. American Journal on Intellectual and Developmental Disabilities, 115(1), 3–18.

234.

Stinton

Tomlinson

Estes

(2012). Examining reports of mental health in adults with Williams syndrome. Research in Developmental Disabilities, 33(1), 144–152.

235.

Stojanovik

James

(2006). Short-term longitudinal study of a child with Williams syndrome. International Journal of Language & Communication Disorders, 41(2), 213–223.

236.

A. I.

Wiltshire

Batalov

Lapp

Ching

K. A.

Block

Zhang

Soden

Hayakawa

Kreiman

Cooke

M. P.

Walker

J. R.

Hogenesch

J. B.

(2004). A gene atlas of the mouse and human protein-encoding transcriptomes. Proceedings of the National Academy of Sciences of the United States of America, 101(16), 6062–6067.

237.

Liu

Shi

Zhu

Shi

Chen

Gao

Lan

Huang

(2016). GFAP expression is regulated by Pax3 in brain glioma stem cells. Oncology Reports, 36(3), 1277–1284. https://doi.org/10.3892/or.2016.4917

238.

Sudiwala

Palmer

Massa

Burns

A. J.

Dunlevy

L. P. E.

de Castro

S. C. P.

Savery

Leung

K. Y.

Copp

A. J.

Greene

N. D. E.

(2019). Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid. Disease Models & Mechanisms, 12(11), dmm042234. https://doi.org/10.1242/dmm.042234

239.

Sullivan

Winner

Tager-Flusberg

(2003). Can adolescents with Williams syndrome tell the difference between lies and jokes? Developmental Neuropsychology, 23(1–2), 85–103.

240.

Swensen

L. D.

Kelley

Fein

Naigles

L. R.

(2007). Processes of language acquisition in children with autism: Evidence from preferential looking. Child Development, 78, 542–557.

241.

Tager-Flusberg

(2000). Understanding the language and communicative impairments in autism. International Review of Research in Mental Retardation, 23, 185–205.

242.

Tager-Flusberg

(2003). Language impairments in children with complex neurodevelopmental disorders: The case of autism. In: Levy

Schaeffer

J. C.

(Eds.), Language competence across populations: Toward a definition of specific language impairment (pp. 297–321). Lawrence Erlbaum.

243.

Tager-Flusberg

(2004). Language and communicative deficits and their effects on learning and behavior. In Prior

(Ed.), Asperger syndrome: Behavioral and educational aspects (pp. 85–103). Guilford Press.

244.

Tager-Flusberg

Skwerer

D. P.

Joseph

R. M.

(2006). Model syndromes for investigating social cognitive and affective neuroscience: A comparison of Autism and Williams syndrome. Social Cognitive and Affective Neuroscience, 1(3), 175–182.

245.

Taracha

Kotarba

Wilanowski

(2018). Neglected functions of TFCP2/TFCP2L1/UBP1 transcription factors may offer valuable insights into their mechanisms of action. International Journal of Molecular Sciences, 19(10), Article E2852. https://doi.org/10.3390/ijms19102852

246.

Tassabehji

(2003). Williams-Beuren syndrome: A challenge for genotype-phenotype correlations. Human Molecular Genetics, 12, R229–R237.

247.

Tassabehji

Read

A. P.

Newton

V. E.

Harris

Balling

Gruss

Strachan

(1992). Waardenburg’s syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature, 355(6361), 635–636.

248.

Telang

Morris

M. E.

(2010). Effect of orally administered phenethyl isothiocyanate on hepatic gene expression in rats. Molecular Nutrition & Food Research, 54(12), 1802–1806. https://doi.org/10.1002/mnfr.200900607

249.

Thakur

Martens

M. A.

Smith

D. S.

Roth

(2018). Williams syndrome and music: A systematic integrative review. Frontiers in Psychology, 9, Article 2203.

250.

Thompson

P. M.

Lee

A. D.

Dutton

R. A.

Geaga

J. A.

Hayashi

K. M.

Eckert

M. A.

Bellugi

Galaburda

A. M.

Korenberg

Mills

D. L.

Toga

A. W.

Reiss

A. L.

(2005). Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. Journal of Neuroscience, 25(16), 4146–4158.

251.

Tomaiuolo

Di Paola

Caravale

Vicari

Petrides

Caltagirone

(2002). Morphology and morphometry of the corpus callosum in Williams syndrome: A T1-weighted MRI study. NeuroReport, 13, 2281–2284.

252.

Tomasi

Volkow

N. D.

(2019). Reduced local and increased long-range functional connectivity of the thalamus in autism spectrum disorder. Cerebral Cortex, 29(2), 573–585.

253.

Tong

Zhang

Guo

Shi

Guan

Wang

Yang

(2016). Expression patterns of SH3BGR family members in zebrafish development. Development Genes and Evolution, 226(4), 287–295. https://doi.org/10.1007/s00427-016-0552-5

254.

Tordjman

Anderson

G. M.

Botbol

Toutain

Sarda

Carlier

Saugier-Veber

Baumann

Cohen

Lagneaux

Tabet

A. C.

Verloes

(2012). Autistic disorder in patients with Williams-Beuren syndrome: A reconsideration of the Williams-Beuren syndrome phenotype. PLOS ONE, 7(3), Article e30778.

255.

Toyoshima

Mandai

Maruo

Supriyanto

Togashi

Inoue

Mori

Takai

(2014). Afadin regulates puncta adherentia junction formation and presynaptic differentiation in hippocampal neurons. PLOS ONE, 9(2), Article e89763.

256.

Tyra

Ropka-Molik

Piórkowska

Oczkowicz

Szyndler-Nędza

Małopolska

(2019). Association of ghrelin gene polymorphisms with fattening traits and feed intake in pig: A preliminary study. Animals, 9(7), Article E410. https://doi.org/10.3390/ani9070410

257.

Van Daalen

Swinkels

S. H.

Dietz

van Engeland

Buitelaar

J. K

. (2007). Body length and head growth in the first year of life in autism. Pediatric Neurology, 37(5), 324–330.

258.

Van Leeuwen

J.-E.

Rafalovich

Sellers

Jones

K. A.

Griffith

T. N.

Huda

Miller

R. J.

Srivastava

D. P.

Penzes

. (2014). Coordinated nuclear and synaptic shuttling of afadin promotes spine plasticity and histone modifications. The Journal of Biological Chemistry, 289(15), 10831–10842. https://doi.org/10.1074/jbc.M113.536391

259.

Vannucchi

Masi

Toni

Dell’Osso

Marazziti

Perugi

(2014). Clinical features, developmental course, and psychiatric comorbidity of adult autism spectrum disorders. CNS Spectrums, 19(2), 157–164.

260.

Vargas

D. M.

De Bastiani

M. A.

Zimmer

E. R.

Klamt

(2018). Alzheimer’s disease master regulators analysis: Search for potential molecular targets and drug repositioning candidates. Alzheimer’s Research & Therapy, 10(1), Article 59. https://doi.org/10.1186/s13195-018-0394-7

261.

Verheyen

G. R.

Villafuerte

S. M.

Del-Favero

Souery

Mendlewicz

Van Broeckhoven

Raeymaekers

(1999). Genetic refinement and physical mapping of a chromosome 18q candidate region for bipolar disorder. European Journal of Human Genetics, 7(4), 427–434.

262.

Vias

Dick

A. S.

(2017). Cerebellar contributions to language in typical and atypical development: A review. Developmental Neuropsychology, 42(6), 404–421.

263.

Viñas-Guasch

Y. J.

(2017). The role of the putamen in language: A meta-analytic connectivity modeling study. Brain Structure and Function, 222(9), 3991–4004.

264.

Vithayathil

Pucilowska

Landreth

G. E.

(2018). ERK/MAPK signaling and autism spectrum disorders. Progress in Brain Research, 241, 63–112.

265.

Vivanti

Hocking

D. R.

Fanning

Dissanayake

(2016). Social affiliation motives modulate spontaneous learning in Williams syndrome but not in autism. Molecular Autism, 7(1), Article 40.

266.

Wahl

Marzinzik

Friederici

A. D.

Hahne

Kupsch

Schneider

G. H.

Saddy

Curio

Klostermann

(2008). The human thalamus processes syntactic and semantic language violations. Neuron, 59, 695–707.

267.

Wallace

Guo

D.-C.

Regalado

Mellor-Crummey

Bamshad

Nickerson

D. A.

Dauser

Hanchard

Marom

Martin

Berka

Sharina

Ganesan

Saunders

Morris

S. A.

Milewicz

D. M.

(2016). Disrupted nitric oxide signaling due to GUCY1A3 mutations increases risk for moyamoya disease, achalasia and hypertension. Clinical Genetics, 90(4), 351–360. https://doi.org/10.1111/cge.12739

268.

Wang

Qin

Liu

Wang

Guo

Liao

(2018). Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Molecular medicine reports, 17(1), 172–178. https://doi.org/10.3892/mmr.2017.7874

269.

Wang

Zhang

Sun

Ding

You

Zhang

S. D.

(2019). The transcription factor TFCP2L1 induces expression of distinct target genes and promotes self-renewal of mouse and human embryonic stem cells. Journal of Biological Chemistry, 294, 6007–6016.

270.

Wang

Chen

Wang

Jin

Liu

(2016). Lower DSC1 expression is related to the poor differentiation and prognosis of head and neck squamous cell carcinoma (HNSCC). Journal of cancer research and clinical oncology, 142(12), 2461–2468. https://doi.org/10.1007/s00432-016-2233-1

271.

Wei

Alberts

(2014). The apoptotic perspective of autism. International Journal of Developmental Neuroscience, 36, 13–18.

272.

Witt

S. H.

Sommer

W. H.

Hansson

A. C.

Sticht

Rietschel

Witt

C. C.

(2013). Comparison of gene expression profiles in the blood, hippocampus and prefrontal cortex of rats. In Silico Pharmacology, 1, Article 15.

273.

Witt

S. H.

Streit

Jungkunz

Frank

Awasthi

Reinbold

C. S.

Treutlein

Degenhardt

Forstner

A. J.

Heilmann-Heimbach

Dietl

Schwarze

C. E.

Schendel

Strohmaier

Abdellaoui

Adolfsson

Air

T. M.

Akil

Alda

. . . Rietschel

(2017). Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. Translational Psychiatry, 7(6), Article e1155. https://doi.org/10.1038/tp.2017.115

274.

Wolters

F. J.

Boender

de Vries

P. S.

Sonneveld

M. A.

Koudstaal

P. J.

de Maat

M. P.

Franco

O. H.

Ikram

M. K.

Leebeek

F. W.

Ikram

M. A.

(2018). Von Willebrand factor and ADAMTS13 activity in relation to risk of dementia: A population-based study. Scientific Reports, 8(1), Article 5474. https://doi.org/10.1038/s41598-018-23865-7

275.

Woodward

N. D.

Giraldo-Chica

Rogers

Cascio

C. J.

(2017). Thalamocortical dysconnectivity in autism spectrum disorder: An analysis of the autism brain imaging data exchange. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging, 2(1), 76–84.

276.

Xiao

Vemula

S. R.

Xue

Khan

M. M.

Carlisle

F. A.

Waite

A. J.

Blake

D. J.

Dragatsis

Zhao

LeDoux

M. S.

(2017). Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. Neurobiology of Disease, 98, 52–65. https://doi.org/10.1016/j.nbd.2016.11.003

277.

Xie

Yang

Deng

Shu

(2017). A genome-wide association study and complex network identify four core hub genes in bipolar disorder. International Journal of Molecular Sciences, 18(12), Article E2763. https://doi.org/10.3390/ijms18122763

278.

Yang

Wang

Gao

Yang

Gong

(2016). Investigating the genetic basis of attention to facial expressions: The role of the norepinephrine transporter gene. Psychiatric Genetics, 26(6), 266–271.

279.

Yao

Darowski

St-Denis

Wong

Offensperger

Villedieu

Amin

Malty

Aoki

Guo

Iorio

Kotlyar

Emili

Jurisica

Neel

B. G.

Babu

Gingras

A. C.

Stagljar

(2017). A global analysis of the receptor tyrosine kinase-protein phosphatase interactome. Molecular Cell, 65(2), 347–360. https://doi.org/10.1016/j.molcel.2016.12.004

280.

Zarrei

Burton

C. L.

Engchuan

Young

E. J.

Higginbotham

E. J.

MacDonald

J. R.

Trost

Chan

A. J. S.

Walker

Lamoureux

Heung

Mojarad

B. A.

Kellam

Paton

Faheem

Miron

Wang

Samler

. . . Scherer

S. W.

(2019). A large data resource of genomic copy number variation across neurodevelopmental disorders. NPJ Genomic Medicine, 4, Article 26.

281.

Zhang

Guo

Tian

Sun

Zhou

Liu

(2015). Puerarin attenuates cognitive dysfunction and oxidative stress in vascular dementia rats induced by chronic ischemia. International Journal of Clinical and Experimental Pathology, 8(5), 4695–4704.

282.

Zhang

Yuan

Wang

(2014). The canonical Wnt signaling pathway in autism. CNS & Neurological Disorders: Drug Targets, 13(5), 765–770.

283.

Zhao

Avilés

Abel

R. A.

Almli

C. R.

McQuillen

Pleasure

S. J.

(2005). Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval. Development, 132(12), 2917–2927.

284.

Zhou

Kaiser

Monteiro

Zhang

Van der Goes

M. S.

Wang

Barak

Zeng

Wells

Amaya

Nguyen

Lewis

Sanjana

Zhou

Zhang

Feng

(2016). Mice with Shank3 mutations associated with ASD and schizophrenia display both shared and distinct defects. Neuron, 89(1), 147–162. https://doi.org/10.1016/j.neuron.2015.11.023

285.

Zhou

Qiu

Sterpka

Wang

Chu

Chen

(2019). Comparative phosphoproteomic profiling of type III adenylyl cyclase knockout and control, male, and female mice. Frontiers in Cellular Neuroscience, 13, Article 34. https://doi.org/10.3389/fncel.2019.00034

286.

Ziegler

Grundner-Culemann

Schiele

M. A.

Schlosser

Kollert

Mahr

Gajewska

Lesch

K. P.

Deckert

Köttgen

Domschke

(2019). The DNA methylome in panic disorder: A case-control and longitudinal psychotherapy-epigenetic study. Translational Psychiatry, 9(1), Article 314. https://doi.org/10.1038/s41398-019-0648-6

Supplementary Material

Please find the following supplemental material available below.

For Open Access articles published under a Creative Commons License, all supplemental material carries the same license as the article it is associated with.

For non-Open Access articles published, all supplemental material carries a non-exclusive license, and permission requests for re-use of supplemental material or any part of supplemental material shall be sent directly to the copyright owner as specified in the copyright notice associated with the article.

0.00 MB

0.03 MB

0.17 MB

4.31 MB

Autism and Williams syndrome: Dissimilar socio-cognitive profiles with similar patterns of abnormal gene expression in the blood

Abstract

Lay abstract

Keywords

Get full access to this article

References

Supplementary Material