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Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing.
Coon KD, Valla J, Szelinger S, Schneider LE, Niedzielko TL, Brown KM, Pearson JV, Halperin R, Dunckley T, Papassotiropoulos A, Caselli RJ, Reiman EM, Stephan DA. Coon KD, et al. Among authors: szelinger s. Mitochondrion. 2006 Aug;6(4):194-210. doi: 10.1016/j.mito.2006.07.002. Epub 2006 Jul 21. Mitochondrion. 2006. PMID: 16920408
A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.
Dunn P, Prigatano GP, Szelinger S, Roth J, Siniard AL, Claasen AM, Richholt RF, De Both M, Corneveaux JJ, Moskowitz AM, Balak C, Piras IS, Russell M, Courtright AL, Belnap N, Rangasamy S, Ramsey K, Opitz JM, Craig DW, Narayanan V, Huentelman MJ, Schrauwen I. Dunn P, et al. Among authors: szelinger s. Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31. Am J Med Genet A. 2017. PMID: 28139025
Evidence for association of bipolar disorder to haplotypes in the 22q12.3 region near the genes stargazin, IFT27 and parvalbumin.
Nissen S, Liang S, Shehktman T, Kelsoe JR; Bipolar Genome Study (BiGS); Greenwood TA, Nievergelt CM, McKinney R, Shilling PD, Smith EN, Schork NJ, Bloss CS, Nurnberger JI Jr, Edenberg HJ, Foroud T, Koller DL, Gershon ES, Liu C, Badner JA, Scheftner WA, Lawson WB, Nwulia EA, Hipolito M, Coryell W, Rice J, Byerley W, McMahon FJ, Berrettini WH, Potash JB, Zandi PP, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Schulze TG. Nissen S, et al. Among authors: szelinger s. Am J Med Genet B Neuropsychiatr Genet. 2012 Dec;159B(8):941-50. doi: 10.1002/ajmg.b.32099. Epub 2012 Oct 4. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 23038240 Free PMC article.
Genome-wide linkage and follow-up association study of postpartum mood symptoms.
Mahon PB, Payne JL, MacKinnon DF, Mondimore FM, Goes FS, Schweizer B, Jancic D; NIMH Genetics Initiative Bipolar Disorder Consortium; BiGS Consortium; Coryell WH, Holmans PA, Shi J, Knowles JA, Scheftner WA, Weissman MM, Levinson DF, DePaulo JR Jr, Zandi PP, Potash JB. Mahon PB, et al. Am J Psychiatry. 2009 Nov;166(11):1229-37. doi: 10.1176/appi.ajp.2009.09030417. Epub 2009 Sep 15. Am J Psychiatry. 2009. PMID: 19755578 Free PMC article.
A genome-wide association study of attempted suicide.
Willour VL, Seifuddin F, Mahon PB, Jancic D, Pirooznia M, Steele J, Schweizer B, Goes FS, Mondimore FM, Mackinnon DF; Bipolar Genome Study Consortium; Perlis RH, Lee PH, Huang J, Kelsoe JR, Shilling PD, Rietschel M, Nöthen M, Cichon S, Gurling H, Purcell S, Smoller JW, Craddock N, DePaulo JR Jr, Schulze TG, McMahon FJ, Zandi PP, Potash JB. Willour VL, et al. Mol Psychiatry. 2012 Apr;17(4):433-44. doi: 10.1038/mp.2011.4. Epub 2011 Mar 22. Mol Psychiatry. 2012. PMID: 21423239 Free PMC article.
Data mining approaches for genome-wide association of mood disorders.
Pirooznia M, Seifuddin F, Judy J, Mahon PB; Bipolar Genome Study (BiGS) Consortium; Potash JB, Zandi PP. Pirooznia M, et al. Psychiatr Genet. 2012 Apr;22(2):55-61. doi: 10.1097/YPG.0b013e32834dc40d. Psychiatr Genet. 2012. PMID: 22081063 Free PMC article.
Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.
Belmonte Mahon P, Pirooznia M, Goes FS, Seifuddin F, Steele J, Lee PH, Huang J, Hamshere ML; Bipolar Genome Study (BiGS) Consortium, The Wellcome Trust Case Control Consortium Bipolar Disorder Group; Depaulo JR Jr, Kelsoe JR, Rietschel M, Nöthen M, Cichon S, Gurling H, Purcell S, Smoller JW, Craddock N, Schulze TG, McMahon FJ, Potash JB, Zandi PP. Belmonte Mahon P, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):370-8. doi: 10.1002/ajmg.b.31172. Epub 2011 Feb 8. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21305692 Free PMC article.
FGF12 copy number variant associated with epileptic encephalopathy.
Abraham A, Ramsey K, Belnap N, Szelinger S, Jepsen W, Balak C, Sanchez-Castillo M, Naymik M, Bonfitto A, Rangasamy S, Kruglyak S, Huentelman M, Narayanan V. Abraham A, et al. Among authors: szelinger s. Clin Genet. 2024 May 8. doi: 10.1111/cge.14542. Online ahead of print. Clin Genet. 2024. PMID: 38715525
Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1/INI-1 deficiency in a vulvar yolk sac tumor.
Wei CH, Wang E, Sadimin E, Rodriguez-Rodriguez L, Agulnik M, Yoon J, LoBello J, Szelinger S, Anderson C. Wei CH, et al. Among authors: szelinger s. Gynecol Oncol Rep. 2023 Oct 15;50:101294. doi: 10.1016/j.gore.2023.101294. eCollection 2023 Dec. Gynecol Oncol Rep. 2023. PMID: 37876879 Free PMC article.
89 results