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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2006 1
2007 1
2008 4
2009 2
2010 1
2015 1
2018 2
2019 3
2020 3
2021 5
2022 4
2023 7
2024 7

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36 results

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Page 1
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Dvela-Levitt M, et al. Among authors: sahakian n. Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. Cell. 2019. PMID: 31348885 Free article.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Lowther C, Valkanas E, Giordano JL, Wang HZ, Currall BB, O'Keefe K, Pierce-Hoffman E, Kurtas NE, Whelan CW, Hao SP, Weisburd B, Jalili V, Fu J, Wong I, Collins RL, Zhao X, Austin-Tse CA, Evangelista E, Lemire G, Aggarwal VS, Lucente D, Gauthier LD, Tolonen C, Sahakian N, Stevens C, An JY, Dong S, Norton ME, MacKenzie TC, Devlin B, Gilmore K, Powell BC, Brandt A, Vetrini F, DiVito M, Sanders SJ, MacArthur DG, Hodge JC, O'Donnell-Luria A, Rehm HL, Vora NL, Levy B, Brand H, Wapner RJ, Talkowski ME. Lowther C, et al. Among authors: sahakian n. Am J Hum Genet. 2023 Sep 7;110(9):1454-1469. doi: 10.1016/j.ajhg.2023.07.010. Epub 2023 Aug 17. Am J Hum Genet. 2023. PMID: 37595579 Free PMC article.
A genomic mutational constraint map using variation in 76,156 human genomes.
Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, Alföldi J, Watts NA, Vittal C, Gauthier LD, Poterba T, Wilson MW, Tarasova Y, Phu W, Grant R, Yohannes MT, Koenig Z, Farjoun Y, Banks E, Donnelly S, Gabriel S, Gupta N, Ferriera S, Tolonen C, Novod S, Bergelson L, Roazen D, Ruano-Rubio V, Covarrubias M, Llanwarne C, Petrillo N, Wade G, Jeandet T, Munshi R, Tibbetts K; Genome Aggregation Database Consortium; O'Donnell-Luria A, Solomonson M, Seed C, Martin AR, Talkowski ME, Rehm HL, Daly MJ, Tiao G, Neale BM, MacArthur DG, Karczewski KJ. Chen S, et al. Nature. 2024 Jan;625(7993):92-100. doi: 10.1038/s41586-023-06045-0. Epub 2023 Dec 6. Nature. 2024. PMID: 38057664
Clinical management of difficult to treat macroprolactinomas.
Sahakian N, Castinetti F, Dufour H, Graillon T, Romanet P, Barlier A, Brue T, Cuny T. Sahakian N, et al. Expert Rev Endocrinol Metab. 2019 May;14(3):179-192. doi: 10.1080/17446651.2019.1596024. Epub 2019 Mar 27. Expert Rev Endocrinol Metab. 2019. PMID: 30913932 Free article. Review.
Genetic testing in prolactinomas: a cohort study.
Boukerrouni A, Cuny T, Anjou T, Raingeard I, Ferrière A, Grunenwald S, Maïza JC, Marquant E, Sahakian N, Fodil-Cherif S, Salle L, Niccoli P, Randrianaivo H, Sonnet E, Chevalier N, Thuillier P, Vezzosi D, Reynaud R, Dufour H, Brue T, Tabarin A, Delemer B, Kerlan V, Castinetti F, Barlier A, Romanet P. Boukerrouni A, et al. Among authors: sahakian n. Eur J Endocrinol. 2023 Dec 6;189(6):567-574. doi: 10.1093/ejendo/lvad148. Eur J Endocrinol. 2023. PMID: 37956455
Updates on the genetics of multiple endocrine neoplasia.
Sahakian N, Castinetti F, Romanet P, Reznik Y, Brue T. Sahakian N, et al. Ann Endocrinol (Paris). 2024 Apr;85(2):127-135. doi: 10.1016/j.ando.2023.11.005. Epub 2024 Feb 5. Ann Endocrinol (Paris). 2024. PMID: 38325596 Review.
Inferring compound heterozygosity from large-scale exome sequencing data.
Guo MH, Francioli LC, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S; gnomAD Project Consortium; Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O'Donnell-Luria A, Karczewski KJ, MacArthur DG, Samocha KE. Guo MH, et al. Nat Genet. 2024 Jan;56(1):152-161. doi: 10.1038/s41588-023-01608-3. Epub 2023 Dec 6. Nat Genet. 2024. PMID: 38057443
Celiac Disease and Obesity: Is Bariatric Surgery an Option?
Lojou M, Sahakian N, Dutour A, Vanbiervliet G, Bege T, Gaborit B. Lojou M, et al. Among authors: sahakian n. Obes Surg. 2020 Jul;30(7):2791-2799. doi: 10.1007/s11695-020-04607-z. Obes Surg. 2020. PMID: 32314256 Review.
36 results