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Page 1
Sequence interpretation. Functional annotation of mouse genome sequences.
Nadeau JH, Balling R, Barsh G, Beier D, Brown SD, Bucan M, Camper S, Carlson G, Copeland N, Eppig J, Fletcher C, Frankel WN, Ganten D, Goldowitz D, Goodnow C, Guenet JL, Hicks G, Hrabe de Angelis M, Jackson I, Jacob HJ, Jenkins N, Johnson D, Justice M, Kay S, Kingsley D, Lehrach H, Magnuson T, Meisler M, Poustka A, Rinchik EM, Rossant J, Russell LB, Schimenti J, Shiroishi T, Skarnes WC, Soriano P, Stanford W, Takahashi JS, Wurst W, Zimmer A; International Mouse Mutagenesis Consortium. Nadeau JH, et al. Among authors: jacob hj. Science. 2001 Feb 16;291(5507):1251-5. doi: 10.1126/science.1058244. Science. 2001. PMID: 11233449 No abstract available.
iBRIDGE: A Data Integration Method to Identify Inflamed Tumors from Single-cell RNA-Seq Data and Differentiate Cell Type-Specific Markers of Immune-Cell Infiltration.
Turan T, Kongpachith S, Halliwill K, McLaughlin RT, Binnewies M, Reddy D, Zhao X, Mathew R, Ye S, Jacob HJ, Samayoa J. Turan T, et al. Among authors: jacob hj. Cancer Immunol Res. 2023 Jun 2;11(6):732-746. doi: 10.1158/2326-6066.CIR-22-0283. Cancer Immunol Res. 2023. PMID: 37023414 Free PMC article.
Correction: A balance score between immune stimulatory and suppressive microenvironments identifies mediators of tumour immunity and predicts pan-cancer survival.
Turan T, Kongpachith S, Halliwill K, Roelands J, Hendrickx W, Marincola FM, Hudson TJ, Jacob HJ, Bedognetti D, Samayoa J, Ceccarelli M. Turan T, et al. Among authors: jacob hj. Br J Cancer. 2021 Mar;124(7):1340. doi: 10.1038/s41416-020-01193-w. Br J Cancer. 2021. PMID: 33277603 Free PMC article. No abstract available.
A balance score between immune stimulatory and suppressive microenvironments identifies mediators of tumour immunity and predicts pan-cancer survival.
Turan T, Kongpachith S, Halliwill K, Roelands J, Hendrickx W, Marincola FM, Hudson TJ, Jacob HJ, Bedognetti D, Samayoa J, Ceccarelli M. Turan T, et al. Among authors: jacob hj. Br J Cancer. 2021 Feb;124(4):760-769. doi: 10.1038/s41416-020-01145-4. Epub 2020 Nov 5. Br J Cancer. 2021. PMID: 33139798 Free PMC article.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network; Campeau PM. Machol K, et al. Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20. Am J Hum Genet. 2019. PMID: 30580808 Free PMC article.
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter K, Adams DR, Bacino CA, Bellen HJ, Bernstein JA, Cheatle-Jarvela AM, Eng CM, Esteves C, Gahl WA, Hamid R, Jacob HJ, Kikani B, Koeller DM, Kohane IS, Lee BH, Loscalzo J, Luo X, McCray AT, Metz TO, Mulvihill JJ, Nelson SF, Palmer CGS, Phillips JA 3rd, Pick L, Postlethwait JH, Reuter C, Shashi V, Sweetser DA, Tifft CJ, Walley NM, Wangler MF, Westerfield M, Wheeler MT, Wise AL, Worthey EA, Yamamoto S, Ashley EA; Undiagnosed Diseases Network. Splinter K, et al. Among authors: jacob hj. N Engl J Med. 2018 Nov 29;379(22):2131-2139. doi: 10.1056/NEJMoa1714458. Epub 2018 Oct 10. N Engl J Med. 2018. PMID: 30304647 Free PMC article.
330 results