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Page 1
Bone resorption in syndromes of the Ras/MAPK pathway.
Stevenson DA, Schwarz EL, Carey JC, Viskochil DH, Hanson H, Bauer S, Weng HY, Greene T, Reinker K, Swensen J, Chan RJ, Yang FC, Senbanjo L, Yang Z, Mao R, Pasquali M. Stevenson DA, et al. Among authors: swensen j. Clin Genet. 2011 Dec;80(6):566-73. doi: 10.1111/j.1399-0004.2010.01619.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204800 Free PMC article.
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
Hartung AM, Swensen J, Uriz IE, Lapin M, Kristjansdottir K, Petersen US, Bang JM, Guerra B, Andersen HS, Dobrowolski SF, Carey JC, Yu P, Vaughn C, Calhoun A, Larsen MR, Dyrskjøt L, Stevenson DA, Andresen BS. Hartung AM, et al. Among authors: swensen j. PLoS Genet. 2016 May 19;12(5):e1006039. doi: 10.1371/journal.pgen.1006039. eCollection 2016 May. PLoS Genet. 2016. PMID: 27195699 Free PMC article.
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Rope AF, Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD, Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H, Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ. Rope AF, et al. Among authors: swensen jj. Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700266 Free PMC article.
Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations.
Svensson AM, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E. Svensson AM, et al. Among authors: swensen jj. Genet Test Mol Biomarkers. 2010 Apr;14(2):171-4. doi: 10.1089/gtmb.2009.0099. Genet Test Mol Biomarkers. 2010. PMID: 20059381
Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.
Sumner K, Swensen JJ, Procter M, Jama M, Wooderchak-Donahue W, Lewis T, Fong M, Hubley L, Schwarz M, Ha Y, Paul E, Brulotte B, Lyon E, Bayrak-Toydemir P, Mao R, Pont-Kingdon G, Best DH. Sumner K, et al. Among authors: swensen jj. J Mol Diagn. 2014 Sep;16(5):477-480. doi: 10.1016/j.jmoldx.2014.04.005. Epub 2014 Jul 9. J Mol Diagn. 2014. PMID: 25017792 Free article.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: swensen j. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.
A new genomic mechanism leading to cri-du-chat syndrome.
South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. South ST, et al. Among authors: swensen jj. Am J Med Genet A. 2006 Dec 15;140(24):2714-20. doi: 10.1002/ajmg.a.31496. Am J Med Genet A. 2006. PMID: 17103439
94 results