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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

27 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.
Ma XR, Conley SD, Kosicki M, Bredikhin D, Cui R, Tran S, Sheth MU, Qiu WL, Chen S, Kundu S, Kang HY, Amgalan D, Munger CJ, Duan L, Dang K, Rubio OM, Kany S, Zamirpour S, DePaolo J, Padmanabhan A; Birth Defects Research Laboratory; Olgin J, Damrauer S, Andersson R, Gu M, Priest JR, Quertermous T, Qiu X, Rabinovitch M, Visel A, Pennacchio L, Kundaje A, Glass IA, Gifford CA, Pirruccello JP, Goodyer WR, Engreitz JM. Ma XR, et al. Among authors: kosicki m. medRxiv [Preprint]. 2024 Nov 22:2024.11.20.24317557. doi: 10.1101/2024.11.20.24317557. medRxiv. 2024. PMID: 39606363 Free PMC article. Preprint.
A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.
Abassah-Oppong S, Zoia M, Mannion BJ, Rouco R, Tissières V, Spurrell CH, Roland V, Darbellay F, Itum A, Gamart J, Festa-Daroux TA, Sullivan CS, Kosicki M, Rodríguez-Carballo E, Fukuda-Yuzawa Y, Hunter RD, Novak CS, Plajzer-Frick I, Tran S, Akiyama JA, Dickel DE, Lopez-Rios J, Barozzi I, Andrey G, Visel A, Pennacchio LA, Cobb J, Osterwalder M. Abassah-Oppong S, et al. Among authors: kosicki m. Nat Commun. 2024 Oct 10;15(1):8793. doi: 10.1038/s41467-024-53009-7. Nat Commun. 2024. PMID: 39389973 Free PMC article.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Jurgens JA, England EM, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. Among authors: kosicki m. Nat Commun. 2024 Sep 27;15(1):8268. doi: 10.1038/s41467-024-52463-7. Nat Commun. 2024. PMID: 39333082 Free PMC article.
Mutagenesis Sensitivity Mapping of Human Enhancers In Vivo.
Kosicki M, Zhang B, Pampari A, Akiyama JA, Plajzer-Frick I, Novak CS, Tran S, Zhu Y, Kato M, Hunter RD, von Maydell K, Barton S, Beckman E, Kundaje A, Dickel DE, Visel A, Pennacchio LA. Kosicki M, et al. bioRxiv [Preprint]. 2024 Sep 8:2024.09.06.611737. doi: 10.1101/2024.09.06.611737. bioRxiv. 2024. PMID: 39282388 Free PMC article. Preprint.
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Antony I, Qian X, Bonacina J, Papandile F, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: kosicki m. Cell Genom. 2024 Aug 14;4(8):100609. doi: 10.1016/j.xgen.2024.100609. Epub 2024 Jul 16. Cell Genom. 2024. PMID: 39019033 Free PMC article.
Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity.
Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. Kosicki M, et al. bioRxiv [Preprint]. 2024 Apr 23:2024.04.22.590634. doi: 10.1101/2024.04.22.590634. bioRxiv. 2024. PMID: 38712228 Free PMC article. Preprint.
27 results