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2015 22
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254 results

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Page 1
The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations.
Genovese A, Butler MG. Genovese A, et al. Genes (Basel). 2023 Mar 9;14(3):677. doi: 10.3390/genes14030677. Genes (Basel). 2023. PMID: 36980949 Free PMC article. Review.
Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and …
Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene-protein interactions with pathway and molecular fu …
16p11.2 deletion syndrome.
Chung WK, Roberts TP, Sherr EH, Snyder LG, Spiro JE. Chung WK, et al. Curr Opin Genet Dev. 2021 Jun;68:49-56. doi: 10.1016/j.gde.2021.01.011. Epub 2021 Mar 2. Curr Opin Genet Dev. 2021. PMID: 33667823 Free PMC article. Review.
The 16p11.2 BP4 and BP5 region, is a recurrent 600kb copy number variant (CNV), and deletions are one of the most frequent etiologies of neurodevelopmental disorders and autism spectrum disorder with an incidence of approximately 1/2000. Deletion carri …
The 16p11.2 BP4 and BP5 region, is a recurrent 600kb copy number variant (CNV), and deletions are one of the most frequ …
16p11.2 Copy Number Variations and Neurodevelopmental Disorders.
Rein B, Yan Z. Rein B, et al. Trends Neurosci. 2020 Nov;43(11):886-901. doi: 10.1016/j.tins.2020.09.001. Epub 2020 Sep 28. Trends Neurosci. 2020. PMID: 32993859 Free PMC article. Review.
In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize preclinical findings from transgenic mouse models of 16p11.2 CNVs. Mice with 16p11.2 deletions or duplications …
In this review, we delineate genetic information and diverse phenotypes in individuals with 16p11.2 CNVs, and synthesize precl …
Autism spectrum disorder: neuropathology and animal models.
Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, Harony-Nicolas H, De Rubeis S, Drapeau E, Buxbaum JD, Hof PR. Varghese M, et al. Acta Neuropathol. 2017 Oct;134(4):537-566. doi: 10.1007/s00401-017-1736-4. Epub 2017 Jun 5. Acta Neuropathol. 2017. PMID: 28584888 Free PMC article. Review.
Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1/2), emerging risk genes (CHD8, SCN2A, SYNGAP1, ARID1B, GRIN2B, DSCAM, TBR1), and copy number variants (15q11-q13 deletion, 15q13.3 m …
Genetically modified models include those based on well-studied monogenic ASD genes (NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1 …
5-HT release in nucleus accumbens rescues social deficits in mouse autism model.
Walsh JJ, Christoffel DJ, Heifets BD, Ben-Dor GA, Selimbeyoglu A, Hung LW, Deisseroth K, Malenka RC. Walsh JJ, et al. Nature. 2018 Aug;560(7720):589-594. doi: 10.1038/s41586-018-0416-4. Epub 2018 Aug 8. Nature. 2018. PMID: 30089910 Free PMC article.
In a mouse model of a common genetic cause of autism spectrum disorder-a copy number variation on chromosome 16p11.2-genetic deletion of the syntenic region from 5-HT neurons induces deficits in social behaviour and decreases dorsal raphe 5-HT neuronal activi …
In a mouse model of a common genetic cause of autism spectrum disorder-a copy number variation on chromosome 16p11.2-genetic …
The individual and global impact of copy-number variants on complex human traits.
Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team; Porcu E, Reymond A, Kutalik Z. Auwerx C, et al. Am J Hum Genet. 2022 Apr 7;109(4):647-668. doi: 10.1016/j.ajhg.2022.02.010. Epub 2022 Mar 2. Am J Hum Genet. 2022. PMID: 35240056 Free PMC article.
Our analysis recapitulated well-known associations (e.g., 1q21 and height), revealed the pleiotropy of recurrent CNVs (e.g., 26 and 16 traits for 16p11.2-BP4-BP5 and 22q11.21, respectively), and suggested gene functionalities (e.g., MARF1 in female reproducti …
Our analysis recapitulated well-known associations (e.g., 1q21 and height), revealed the pleiotropy of recurrent CNVs (e.g., 26 and 16 trait …
Health supervision for children and adolescents with 16p11.2 deletion syndrome.
Chung WK, Herrera FF; Simon's Searchlight Foundation. Chung WK, et al. Cold Spring Harb Mol Case Stud. 2024 Jan 10;9(4):a006316. doi: 10.1101/mcs.a006316. Print 2023 Dec. Cold Spring Harb Mol Case Stud. 2024. PMID: 38050025 Free PMC article.
This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the complexities of 16p11.2 deletion syndrome. A multidisciplinary medical home with the primary care provider leading the care a …
This clinical review is designed to assist the pediatrician, family physician, or internist in the primary care setting to manage the comple …
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.
Herlin MK. Herlin MK. Front Endocrinol (Lausanne). 2024 Apr 18;15:1368990. doi: 10.3389/fendo.2024.1368990. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38699388 Free PMC article. Review.
However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited success in their search for genetic causes of MRKH syndrome. More recently, genomic investigations using chromosomal microarray and genome-wi …
However, cumulative reports of familial recurrence suggest genetic factors to be involved. Early candidate gene studies had limited s …
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C, Jõeloo M, Sadler MC, Tesio N, Ojavee S, Clark CJ, Mägi R; Estonian Biobank Research Team; Reymond A, Kutalik Z. Auwerx C, et al. Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5. Genome Med. 2024. PMID: 38185688 Free PMC article.
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA1 and LDLR increased risk for ovarian cancer and ischemic heart disease, respectively), clarified dosage mechanisms of action (e.g., both in …
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA …
254 results