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Year Number of Results
2008 4
2009 7
2010 9
2011 7
2012 2
2013 6
2014 2
2015 9
2016 4
2017 4
2018 6
2019 6
2020 5
2021 11
2022 11
2023 5
2024 1

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90 results

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Page 1
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case Control Consortium 2; Sawcer S, Hellenthal G, Pirinen M, Spencer CC, Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S, Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F, Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S, Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J, Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE, Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM, Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K, Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi R, Dubo… See abstract for full author list ➔ International Multiple Sclerosis Genetics Consortium, et al. Nature. 2011 Aug 10;476(7359):214-9. doi: 10.1038/nature10251. Nature. 2011. PMID: 21833088 Free PMC article.
The genetic basis of eosinophilic esophagitis.
Sleiman PMA, March M, Hakonarson H. Sleiman PMA, et al. Best Pract Res Clin Gastroenterol. 2015 Oct;29(5):701-707. doi: 10.1016/j.bpg.2015.09.003. Epub 2015 Sep 11. Best Pract Res Clin Gastroenterol. 2015. PMID: 26552769 Review.
COVID-19 in pediatrics: Genetic susceptibility.
Glessner JT, Chang X, Mentch F, Qu H, Abrams DJ, Thomas A, Sleiman PMA, Hakonarson H. Glessner JT, et al. Among authors: sleiman pma. Front Genet. 2022 Aug 16;13:928466. doi: 10.3389/fgene.2022.928466. eCollection 2022. Front Genet. 2022. PMID: 36051697 Free PMC article.
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Zeng C, et al. Among authors: sleiman pma. JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373. JAMA Oncol. 2022. PMID: 35446370 Free PMC article.
Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.
Glessner JT, Ningappa MB, Ngo KA, Zahid M, So J, Higgs BW, Sleiman PMA, Narayanan T, Ranganathan S, March M, Prasadan K, Vaccaro C, Reyes-Mugica M, Velazquez J, Salgado CM, Ebrahimkhani MR, Schmitt L, Rajasundaram D, Paul M, Pellegrino R, Gittes GK, Li D, Wang X, Billings J, Squires R, Ashokkumar C, Sharif K, Kelly D, Dhawan A, Horslen S, Lo CW, Shin D, Subramaniam S, Hakonarson H, Sindhi R. Glessner JT, et al. Among authors: sleiman pma. J Hepatol. 2023 Dec;79(6):1385-1395. doi: 10.1016/j.jhep.2023.07.039. Epub 2023 Aug 11. J Hepatol. 2023. PMID: 37572794 Free PMC article.
Mitochondrial DNA Haplogroups and Susceptibility to Neuroblastoma.
Chang X, Bakay M, Liu Y, Glessner J, Rathi KS, Hou C, Qu H, Vaksman Z, Nguyen K, Sleiman PMA, Diskin SJ, Maris JM, Hakonarson H. Chang X, et al. Among authors: sleiman pma. J Natl Cancer Inst. 2020 Dec 14;112(12):1259-1266. doi: 10.1093/jnci/djaa024. J Natl Cancer Inst. 2020. PMID: 32096864 Free PMC article.
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.
Glessner JT, Khan ME, Chang X, Liu Y, Otieno FG, Lemma M, Slaby I, Hain H, Mentch F, Li J, Kao C, Sleiman PMA, March ME, Connolly J, Hakonarson H. Glessner JT, et al. Among authors: sleiman pma. J Neurodev Disord. 2023 Apr 29;15(1):14. doi: 10.1186/s11689-023-09483-z. J Neurodev Disord. 2023. PMID: 37120522 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
90 results