Center-Authored Papers

Filters: Author is Tabor, Holly K  [Clear All Filters]
2012
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC et al..  2012.  Noninvasive whole-genome sequencing of a human fetus.. Science translational medicine. 4(137):137ra76. Abstract
2013
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JPA, Peters U, Robinson JG, Sucheston LE et al..  2013.  Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset.. Human molecular genetics. Abstract
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT et al..  2013.  Actionable, pathogenic incidental findings in 1,000 participants' exomes.. American journal of human genetics. 93(4):631-40. Abstract
2014
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HIS, Aracena MI, Aylsworth AS, Bitoun P, Carey JC et al..  2014.  Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5.. American journal of human genetics. Abstract
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu J-H, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA et al..  2014.  Pathogenic variants for mendelian and complex traits in exomes of 6,517 European and african americans: implications for the return of incidental results.. American journal of human genetics. 95(2):183-93. Abstract
2015
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T et al..  2015.  The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.. American journal of human genetics. Abstract
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS et al..  2015.  Actionable exomic incidental findings in 6503 participants: challenges of variant classification.. Genome research. 25(3):305-15. Abstract
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN et al..  2015.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. American journal of human genetics. 96(3):462-73. Abstract
2016
Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL et al..  2016.  Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.. American journal of human genetics. 98(6):1051-1066. Abstract