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Year Number of Results
2003 1
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2008 4
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2024 7
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37 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.
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: sahakian n. bioRxiv [Preprint]. 2024 Feb 28:2023.01.23.525248. doi: 10.1101/2023.01.23.525248. bioRxiv. 2024. Update in: Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123. PMID: 36747613 Free PMC article. Updated. Preprint.
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.
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.
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.
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.
A harmonized public resource of deeply sequenced diverse human genomes.
Koenig Z, Yohannes MT, Nkambule LL, Zhao X, Goodrich JK, Kim HA, Wilson MW, Tiao G, Hao SP, Sahakian N, Chao KR, Walker MA, Lyu Y; gnomAD Project Consortium; Rehm HL, Neale BM, Talkowski ME, Daly MJ, Brand H, Karczewski KJ, Atkinson EG, Martin AR. Koenig Z, et al. Among authors: sahakian n. Genome Res. 2024 Jun 25;34(5):796-809. doi: 10.1101/gr.278378.123. Genome Res. 2024. PMID: 38749656 Free PMC article.
37 results