Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

67 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE. Stessman HA, et al. Among authors: pramparo t. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13. Nat Genet. 2017. PMID: 28191889 Free PMC article.
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Geisheker MR, et al. Among authors: pramparo t. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19. Nat Neurosci. 2017. PMID: 28628100 Free PMC article.
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, Snyder LG, Han B, Chang TS, Turner TN, Harvey WT, Nishida A, O'Roak BJ, Geschwind DH; SPARK Consortium; Michaelson JJ, Volfovsky N, Eichler EE, Shen Y, Chung WK. Zhou X, et al. Nat Genet. 2022 Sep;54(9):1305-1319. doi: 10.1038/s41588-022-01148-2. Epub 2022 Aug 18. Nat Genet. 2022. PMID: 35982159 Free PMC article.
Hierarchical cortical transcriptome disorganization in autism.
Lombardo MV, Courchesne E, Lewis NE, Pramparo T. Lombardo MV, et al. Among authors: pramparo t. Mol Autism. 2017 Jun 21;8:29. doi: 10.1186/s13229-017-0147-7. eCollection 2017. Mol Autism. 2017. PMID: 28649314 Free PMC article.
The ASD Living Biology: from cell proliferation to clinical phenotype.
Courchesne E, Pramparo T, Gazestani VH, Lombardo MV, Pierce K, Lewis NE. Courchesne E, et al. Among authors: pramparo t. Mol Psychiatry. 2019 Jan;24(1):88-107. doi: 10.1038/s41380-018-0056-y. Epub 2018 Jun 22. Mol Psychiatry. 2019. PMID: 29934544 Free PMC article. Review.
Large-scale associations between the leukocyte transcriptome and BOLD responses to speech differ in autism early language outcome subtypes.
Lombardo MV, Pramparo T, Gazestani V, Warrier V, Bethlehem RAI, Carter Barnes C, Lopez L, Lewis NE, Eyler L, Pierce K, Courchesne E. Lombardo MV, et al. Among authors: pramparo t. Nat Neurosci. 2018 Dec;21(12):1680-1688. doi: 10.1038/s41593-018-0281-3. Epub 2018 Nov 26. Nat Neurosci. 2018. PMID: 30482947 Free PMC article.
Pre-treatment clinical and gene expression patterns predict developmental change in early intervention in autism.
Lombardo MV, Busuoli EM, Schreibman L, Stahmer AC, Pramparo T, Landi I, Mandelli V, Bertelsen N, Barnes CC, Gazestani V, Lopez L, Bacon EC, Courchesne E, Pierce K. Lombardo MV, et al. Among authors: pramparo t. Mol Psychiatry. 2021 Dec;26(12):7641-7651. doi: 10.1038/s41380-021-01239-2. Epub 2021 Aug 2. Mol Psychiatry. 2021. PMID: 34341515 Free PMC article.
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.
Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E. Chow ML, et al. Among authors: pramparo t. PLoS Genet. 2012;8(3):e1002592. doi: 10.1371/journal.pgen.1002592. Epub 2012 Mar 22. PLoS Genet. 2012. PMID: 22457638 Free PMC article.
67 results