Works matching DE "GENETICS of autism"

Results: 463

Genetic Investigation of Inherited Variants in a Multiplex Autism Spectrum Disorder (ASD) Family Using Whole-Genome Sequencing (WGS).

Published in:

Iranian Journal of Public Health, 2025, v. 54, n. 5, p. 1087, doi. 10.18502/ijph.v54i5.18643

By:

Gholizadeh, Mehdi Agha;
Behjati, Farkhondeh;
Garshasbi, Masoud

Publication type:

Article

Shared Immune and Nutrient Metabolism Pathways Between Autism Spectrum Disorder and Celiac Disease: An In Silico Approach.

Published in:

Nutrients, 2025, v. 17, n. 9, p. 1439, doi. 10.3390/nu17091439

By:

Sykioti, Panagiota;
Zis, Panagiotis;
Hadjikonstanti, Despina;
Hadjivassiliou, Marios;
Vavougios, George D.

Publication type:

Article

Consanguinity as a Risk Factor for Autism.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 6, p. 1945, doi. 10.1007/s10803-023-06137-w

By:

Alshaban, Fouad A.;
Aldosari, Mohammad;
Ghazal, Iman;
Al-Shammari, Hawraa;
ElHag, Saba;
Thompson, I. Richard;
Bruder, Jennifer;
Shaath, Hibah;
Al-Faraj, Fatema;
Tolefat, Mohamed;
Nasir, Assal;
Fombonne, Eric

Publication type:

Article

ASiDentify (ASiD): a machine learning model to predict new autism spectrum disorder risk genes.

Published in:

Genetics, 2025, v. 230, n. 1, p. 1, doi. 10.1093/genetics/iyaf040

By:

Rynard, Katherine M;
Han, Kara;
Wainberg, Michael;
Calarco, John A;
Lee, Hyun O;
Lipshitz, Howard D;
Smibert, Craig A;
Tripathy, Shreejoy J

Publication type:

Article

Research suggests autism starts in the womb.

Published in:: Lamp (0047-3936), 2014, v. 71, n. 4, p. 11
Publication type:: Article

Fathers linked to autism, schizophrenia.

Published in:: Lamp (0047-3936), 2012, v. 69, n. 8, p. 10
Publication type:: Article

Gut Microbiota Alterations in Autism Spectrum Disorder.

Published in:

Turkish Archives of Pediatrics, 2024, v. 59, n. 5, p. 506, doi. 10.5152/TurkArchPediatr.2024.24086

By:

Posar, Annio;
Visconti, Paola

Publication type:

Article

Autism Spectrum Disorder in 2023: A Challenge Still Open.

Published in:

Turkish Archives of Pediatrics, 2023, v. 58, n. 6, p. 566, doi. 10.5152/TurkArchPediatr.2023.23194

By:

Posar, Annio;
Visconti, Paola

Publication type:

Article

Interneuron dysfunction in psychiatric disorders.

Published in:

Nature Reviews Neuroscience, 2012, v. 13, n. 2, p. 107, doi. 10.1038/nrn3155

By:

Marín, Oscar

Publication type:

Article

A response to Pellicano et al.

Published in:

2011

By:

Walsh, Pat;
Elsabbagh, Mayada;
Bolton, Patrick;
Singh, Ilina

Publication type:

Letter

Engaging, not excluding: a response to Walsh et al.

Published in:

2011

By:

Pellicano, Elizabeth;
Ne'eman, Ari;
Stears, Marc

Publication type:

Letter

Structured Variation in Parental Beliefs about Autism.

Published in:

2019

By:

McLeod, Jane D.;
DiSabatino, Lydia

Publication type:

journal article

Hypermethylation of the enolase gene ( ENO2) in autism.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1233, doi. 10.1007/s00431-014-2311-9

By:

Wang, Yu;
Fang, Yudan;
Zhang, Fengling;
Xu, Miao;
Zhang, Jingzhi;
Yan, Jingbin;
Ju, Weina;
Brown, W.;
Zhong, Nanbert

Publication type:

Article

Autism spectrum disorders in siblings of children with a developmental language disorder.

Published in:

Logopedics Phoniatrics Vocology, 2011, v. 36, n. 4, p. 145, doi. 10.3109/14015439.2011.566575

By:

Mouridsen, Svend Erik;
Hauschild, Karen-Marie

Publication type:

Article

SYNGAP1 mutation in a pediatric patient with autism spectrum disorder and intellectual disability.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2020, v. 33, n. 4, p. 433, doi. 10.14744/DAJPNS.2020.00112

By:

Tezcan, Mustafa Esad;
Cetin, Fatih Hilmi;
Duymus, Fahrettin;
Cor, Tulin;
Turkoglu, Serhat

Publication type:

Article

ARID1B gene mutation in a patient with Coffin-Siris syndrome and Autism Spectrum Disorder.

Published in:

Dusunen Adam: Journal of Psychiatry & Neurological Sciences, 2019, v. 32, n. 4, p. 355, doi. 10.14744/DAJPNS.2019.00051

By:

Gulcu, Nur Seda;
Karayagmurlu, Ali

Publication type:

Article

Impact of a Genetic Diagnosis for a Child's Autism on Parental Perceptions.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 5, p. 1809, doi. 10.1007/s10803-024-06273-x

By:

Wynn, Julia;
Karlsen, Anna;
Huber, Benjamin;
Levine, Alina;
Salem, Amanie;
White, L. Casey;
Luby, Marti;
Bezborodko, Ekaterina;
Xiao, Sabrina;
Chung, Wendy K.;
Klitzman, Robert L.;
Appelbaum, Paul S.

Publication type:

Article

Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 2, p. 569, doi. 10.1007/s10803-023-06231-z

By:

Dounavi, Katerina;
Koldas, Meral

Publication type:

Article

Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 1, p. 284, doi. 10.1007/s10803-023-06195-0

By:

Klitzman, Robert;
Bezborodko, Ekaterina;
Chung, Wendy K.;
Appelbaum, Paul S.

Publication type:

Article

Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability.

Published in:

Journal of Autism & Developmental Disorders, 2025, v. 55, n. 1, p. 297, doi. 10.1007/s10803-023-06162-9

By:

Wright, Damien;
Kenny, Aisling;
Mizen, Lindsay A. M.;
McKechanie, Andrew G.;
Stanfield, Andrew C.

Publication type:

Article

Using the Infant Sibling-Design to Explore Associations Between Autism and ADHD Traits in Probands and Temperament in the Younger Siblings.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 9, p. 3262, doi. 10.1007/s10803-023-06047-x

By:

Andersson Konke, Linn;
Falck-Ytter, Terje;
Jones, Emily J. H.;
Goodwin, Amy;
Brocki, Karin

Publication type:

Article

Sensory Profiles in Relation to Later Adaptive Functioning Among Toddlers at High-Familial Likelihood for Autism.

Published in:

Journal of Autism & Developmental Disorders, 2024, v. 54, n. 6, p. 2183, doi. 10.1007/s10803-022-05869-5

By:

Worthley, Emma;
Grzadzinski, Rebecca;
Zwaigenbaum, Lonnie;
Dager, Stephen R.;
Estes, Annette M.;
Hazlett, Heather C.;
Schultz, Robert T.;
Piven, Joseph;
Wolff, Jason J

Publication type:

Article

Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 9, p. 3595, doi. 10.1007/s10803-022-05631-x

By:

Hickman, Allison R.;
Selee, Bradley;
Pauly, Rini;
Husain, Benafsh;
Hang, Yuqing;
Feltus, Frank Alex

Publication type:

Article

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Published in:

2023

By:

Narasimhan, Udayakumar;
Janakiraman, Abhinayaa;
Puskur, Dedeepya;
Anitha, Fatima Shirly;
Paul, Solomon Franklin Durairaj;
Koshy, Teena

Publication type:

Letter to the Editor

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 2, p. 615, doi. 10.1007/s10803-020-04833-5

By:

Annunziata, Silvia;
Bulgheroni, Sara;
D'Arrigo, Stefano;
Esposito, Silvia;
Taddei, Matilde;
Saletti, Veronica;
Alfei, Enrico;
Sciacca, Francesca Luisa;
Rizzo, Ambra;
Pantaleoni, Chiara;
Riva, Daria

Publication type:

Article

Oxytocin Exposure in Labor and its Relationship with Cognitive Impairment and the Genetic Architecture of Autism.

Published in:

Journal of Autism & Developmental Disorders, 2023, v. 53, n. 1, p. 66, doi. 10.1007/s10803-021-05409-7

By:

García-Alcón, Alicia;
González-Peñas, Javier;
Weckx, Elisa;
Penzol, M. J.;
Gurriarán, Xaquín;
Costas, Javier;
Díaz-Caneja, Covadonga M.;
Moreno, Carmen;
Hernández, Patricia;
Arango, Celso;
Parellada, Mara

Publication type:

Article

Novel Variants of the SMARCA4 Gene Associated with Autistic Features Rather Than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 5033, doi. 10.1007/s10803-021-05365-2

By:

Qian, Yanyan;
Zhou, Yuanfeng;
Wu, Bingbing;
Chen, Huiyao;
Xu, Suzhen;
Wang, Yao;
Zhang, Ping;
Li, Gang;
Xu, Qiong;
Zhou, Wenhao;
Xu, Xiu;
Wang, Huijun

Publication type:

Article

Beyond Genes: Germline Disruption in the Etiology of Autism Spectrum Disorders.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 10, p. 4608, doi. 10.1007/s10803-021-05304-1

By:

Escher, Jill;
Yan, Wei;
Rissman, Emilie F.;
Wang, Hsiao-Lin V.;
Hernandez, Arturo;
Corces, Victor G.

Publication type:

Article

Brief Report: The Broad Autism Phenotype in Swedish Parents of Children With and Without Autism Spectrum Conditions.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 10, p. 4575, doi. 10.1007/s10803-021-05302-3

By:

Bang, Peter;
Strömberg, Maria;
Meera, Shoba S.;
Igelström, Kajsa

Publication type:

Article

Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome.

Published in:

Journal of Autism & Developmental Disorders, 2022, v. 52, n. 8, p. 3755, doi. 10.1007/s10803-021-05239-7

By:

Silva, Cristina C.;
Morais, Sofia;
Areias, Graça;
Meneses, Maria S.;
Madeira, Nuno G. G. F.;
Ramos, Christopher R. C.

Publication type:

Article

Case Report: Association of Comorbid Psychiatric Disorders and Sigmoid Prolapse with de novo POGZ Mutation.

Published in:

2022

By:

Wright, Cary M.;
Guter, Stephen J.;
Cook, Edwin H.

Publication type:

Case Study

Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 12, p. 4655, doi. 10.1007/s10803-021-04910-3

By:

Ohashi, Kei;
Fukuhara, Satomi;
Miyachi, Taishi;
Asai, Tomoko;
Imaeda, Masayuki;
Goto, Masahide;
Kurokawa, Yoshie;
Anzai, Tatsuya;
Tsurusaki, Yoshinori;
Miyake, Noriko;
Matsumoto, Naomichi;
Yamagata, Takanori;
Saitoh, Shinji

Publication type:

Article

Genetic Advances in Autism.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 12, p. 4321, doi. 10.1007/s10803-020-04685-z

By:

Thapar, Anita;
Rutter, Michael

Publication type:

Article

Brief Report: Associations Between Self-injurious Behaviors and Abdominal Pain Among Individuals with ASD-Associated Disruptive Mutations.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 9, p. 3365, doi. 10.1007/s10803-020-04774-z

By:

Kurtz-Nelson, Evangeline C.;
Tham, See Wan;
Ahlers, Kaitlyn;
Cho, Daniel;
Wallace, Arianne S.;
Eichler, Evan E.;
Bernier, Raphael A.;
Earl, Rachel K.

Publication type:

Article

Autistic Disorder: A 20 Year Chronicle.

Published in:

Journal of Autism & Developmental Disorders, 2021, v. 51, n. 2, p. 677, doi. 10.1007/s10803-020-04568-3

By:

Skinner, Cindy;
Pauly, Rini;
Skinner, Steven A.;
Schroer, Richard J.;
Simensen, Richard J.;
Taylor, Harold A.;
Friez, Michael J.;
DuPont, Barbara R.;
Stevenson, Roger E.

Publication type:

Article

Brief Report: Genetic Links Between Autism and Suicidal Behavior—A Preliminary Investigation.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 10, p. 3525, doi. 10.1007/s10803-020-04419-1

By:

DiBlasi, Emily;
Kirby, Anne V.;
Gaj, Eoin;
Docherty, Anna R.;
Keeshin, Brooks R.;
Bakian, Amanda V.;
Coon, Hilary

Publication type:

Article

An Acoustic Characterization of Prosodic Differences in Autism Spectrum Disorder and First-Degree Relatives.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 8, p. 3032, doi. 10.1007/s10803-020-04392-9

By:

Patel, Shivani P.;
Nayar, Kritika;
Martin, Gary E.;
Franich, Kathryn;
Crawford, Stephanie;
Diehl, Joshua J.;
Losh, Molly

Publication type:

Article

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder.

Published in:

2020

By:

García-Ortiz, José E.;
Zarazúa-Niño, Ana I.;
Hernández-Orozco, Angélica A.;
Reyes-Oliva, Edwin A.;
Pérez-Ávila, Carlos E.;
Becerra-Solano, Luis E.;
Galán-Huerta, Kame A.;
Rivas-Estilla, Ana M.;
Córdova-Fletes, Carlos

Publication type:

Case Study

Sensory Abnormality and Quantitative Autism Traits in Children With and Without Autism Spectrum Disorder in an Epidemiological Population.

Published in:

Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 180, doi. 10.1007/s10803-019-04237-0

By:

Jussila, K.;
Junttila, M.;
Kielinen, M.;
Ebeling, H.;
Joskitt, L.;
Moilanen, I.;
Mattila, M.-L.

Publication type:

Article

Trajectories of Posture Development in Infants With and Without Familial Risk for Autism Spectrum Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 8, p. 3257, doi. 10.1007/s10803-019-04048-3

By:

Leezenbaum, Nina B.;
Iverson, Jana M.

Publication type:

Article

The Importance of Temperament for Understanding Early Manifestations of Autism Spectrum Disorder in High-Risk Infants.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 7, p. 2849, doi. 10.1007/s10803-019-04003-2

By:

Paterson, Sarah J.;
Wolff, Jason J.;
Elison, Jed T.;
Winder-Patel, Breanna;
Zwaigenbaum, Lonnie;
Estes, Annette;
Pandey, Juhi;
Schultz, Robert T.;
Botteron, Kelly;
Dager, Stephen R.;
Hazlett, Heather C.;
Piven, Joseph

Publication type:

Article

Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 7, p. 2838, doi. 10.1007/s10803-019-04001-4

By:

Isaksson, J.;
Van't Westeinde, A.;
Cauvet, É.;
Kuja-Halkola, R.;
Lundin, K.;
Neufeld, J.;
Willfors, C.;
Bölte, S.

Publication type:

Article

Parents' Use of Internal State Language with Toddlers at High and Low Genetic Risk for Autism Spectrum Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 4, p. 1366, doi. 10.1007/s10803-018-3839-8

By:

Campbell, Susan B.;
Mahoney, Amanda S.;
Brownell, Celia A.;
Moore, Elizabeth L.;
Tavares, Amy B.

Publication type:

Article

Predictors of Pragmatic Communication in School-Age Siblings of Children with ASD and Low-Risk Controls.

Published in:

Journal of Autism & Developmental Disorders, 2019, v. 49, n. 4, p. 1352, doi. 10.1007/s10803-018-3837-x

By:

Greenslade, Kathryn J.;
Utter, Elizabeth A.;
Landa, Rebecca J.

Publication type:

Article

Broad Autism Phenotypic Traits and the Relationship to Sexual Orientation and Sexual Behavior.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 12, p. 3974, doi. 10.1007/s10803-018-3556-3

By:

Qualls, Lydia R.;
Hartmann, Kathrin;
Paulson, James F.

Publication type:

Article

Parent-Child Interaction Synchrony for Infants At-Risk for Autism Spectrum Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 10, p. 3562, doi. 10.1007/s10803-018-3624-8

By:

Steiner, Amanda Mossman;
Gengoux, Grace W.;
Smith, Amanda;
Chawarska, Katarzyna

Publication type:

Article

Brief Report: Clusters and Trajectories Across the Autism and/or ADHD Spectrum.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 10, p. 3629, doi. 10.1007/s10803-018-3618-6

By:

LaBianca, S.;
Pagsberg, A. K.;
Jakobsen, K. D.;
Demur, A. B.;
Bartalan, M.;
LaBianca, J.;
Werge, T.

Publication type:

Article

Adaptive Behaviour and Cognitive Skills: Stability and Change from 7 Months to 7 Years in Siblings at High Familial Risk of Autism Spectrum Disorder.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 9, p. 2901, doi. 10.1007/s10803-018-3554-5

By:

Salomone, Erica;
Shephard, Elizabeth;
Milosavljevic, Bosiljka;
Johnson, Mark H.;
Charman, Tony;
The BASIS Team

Publication type:

Article

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 8, p. 2886, doi. 10.1007/s10803-018-3552-7

By:

Demily, Caroline;
Poisson, Alice;
Till, Marianne;
Lesca, Gaétan;
Chatron, Nicolas;
Sanlaville, Damien;
Barcia, Giulia;
Munnich, Arnold

Publication type:

Article

Face Identity Recognition and the Social Difficulties Component of the Autism-Like Phenotype: Evidence for Phenotypic and Genetic Links.

Published in:

Journal of Autism & Developmental Disorders, 2018, v. 48, n. 8, p. 2758, doi. 10.1007/s10803-018-3539-4

By:

Lewis, Gary J.;
Shakeshaft, Nicolas G.;
Plomin, Robert

Publication type:

Article