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

26 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Neuroimaging abnormalities associated with immunotherapy responsiveness in Down syndrome regression disorder.
Santoro JD, Khoshnood MM, Jafarpour S, Nguyen L, Boyd NK, Vogel BN, Kammeyer R, Patel L, Manning MA, Rachubinski AL, Filipink RA, Baumer NT, Santoro SL, Franklin C, Tamrazi B, Yeom KW, Worley G, Espinosa JM, Rafii MS. Santoro JD, et al. Among authors: rachubinski al. Ann Clin Transl Neurol. 2024 Apr;11(4):1034-1045. doi: 10.1002/acn3.52023. Epub 2024 Feb 20. Ann Clin Transl Neurol. 2024. PMID: 38375538 Free PMC article.
Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition.
Galbraith MD, Rachubinski AL, Smith KP, Araya P, Waugh KA, Enriquez-Estrada B, Worek K, Granrath RE, Kinning KT, Paul Eduthan N, Ludwig MP, Hsieh EWY, Sullivan KD, Espinosa JM. Galbraith MD, et al. Among authors: rachubinski al. Sci Adv. 2023 Jun 28;9(26):eadg6218. doi: 10.1126/sciadv.adg6218. Epub 2023 Jun 28. Sci Adv. 2023. PMID: 37379383 Free PMC article.
Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model.
Waugh KA, Minter R, Baxter J, Chi C, Galbraith MD, Tuttle KD, Eduthan NP, Kinning KT, Andrysik Z, Araya P, Dougherty H, Dunn LN, Ludwig M, Schade KA, Tracy D, Smith KP, Granrath RE, Busquet N, Khanal S, Anderson RD, Cox LL, Estrada BE, Rachubinski AL, Lyford HR, Britton EC, Fantauzzo KA, Orlicky DJ, Matsuda JL, Song K, Cox TC, Sullivan KD, Espinosa JM. Waugh KA, et al. Among authors: rachubinski al. Nat Genet. 2023 Jun;55(6):1034-1047. doi: 10.1038/s41588-023-01399-7. Epub 2023 Jun 5. Nat Genet. 2023. PMID: 37277650 Free PMC article.
Cell differentiation modifies the p53 transcriptional program through a combination of gene silencing and constitutive transactivation.
Tatavosian R, Donovan MG, Galbraith MD, Duc HN, Szwarc MM, Joshi MU, Frieman A, Bilousova G, Cao Y, Smith KP, Song K, Rachubinski AL, Andrysik Z, Espinosa JM. Tatavosian R, et al. Among authors: rachubinski al. Cell Death Differ. 2023 Apr;30(4):952-965. doi: 10.1038/s41418-023-01113-4. Epub 2023 Jan 21. Cell Death Differ. 2023. PMID: 36681780 Free PMC article.
IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome.
Araya P, Kinning KT, Coughlan C, Smith KP, Granrath RE, Enriquez-Estrada BA, Worek K, Sullivan KD, Rachubinski AL, Wolter-Warmerdam K, Hickey F, Galbraith MD, Potter H, Espinosa JM. Araya P, et al. Among authors: rachubinski al. Cell Rep. 2022 Dec 27;41(13):111883. doi: 10.1016/j.celrep.2022.111883. Cell Rep. 2022. PMID: 36577365 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.
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation.
Liggett LA, Galbraith MD, Smith KP, Sullivan KD, Granrath RE, Enriquez-Estrada B, Kinning KT, Shaw JR, Rachubinski AL, Espinosa JM, DeGregori J. Liggett LA, et al. Among authors: rachubinski al. Blood Adv. 2021 Apr 13;5(7):1791-1796. doi: 10.1182/bloodadvances.2020003858. Blood Adv. 2021. PMID: 33787858 Free PMC article.
26 results