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An informatics approach to analyzing the incidentalome.
Berg JS, Adams M, Nassar N, Bizon C, Lee K, Schmitt CP, Wilhelmsen KC, Evans JP. Berg JS, et al. Genet Med. 2013 Jan;15(1):36-44. doi: 10.1038/gim.2012.112. Epub 2012 Sep 20. Genet Med. 2013. PMID: 22995991 Free PMC article.
Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.
Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS. Haskell GT, et al. Among authors: berg js. Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29417091 Free PMC article.
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Leo MC, McMullen C, Wilfond BS, Lynch FL, Reiss JA, Gilmore MJ, Himes P, Kauffman TL, Davis JV, Jarvik GP, Berg JS, Harding C, Kennedy KA, Simpson DK, Quigley DI, Richards CS, Rope AF, Goddard KA. Leo MC, et al. Among authors: berg js. Am J Med Genet A. 2016 Mar;170(3):574-82. doi: 10.1002/ajmg.a.37477. Epub 2016 Jan 21. Am J Med Genet A. 2016. PMID: 26792268 Free PMC article.
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Korngiebel DM, McMullen CK, Amendola LM, Berg JS, Davis JV, Gilmore MJ, Harding CO, Himes P, Jarvik GP, Kauffman TL, Kennedy KA, Simpson DK, Leo MC, Lynch FL, Quigley DI, Reiss JA, Richards CS, Rope AF, Schneider JL, Goddard KA, Wilfond BS. Korngiebel DM, et al. Among authors: berg js. Am J Med Genet A. 2016 Mar;170(3):565-73. doi: 10.1002/ajmg.a.37513. Am J Med Genet A. 2016. PMID: 26889673 Free PMC article.
305 results