Find Research outputs

Search results

• Whole genome sequence and comparative genomics of the novel lyme borreliosis causing pathogen, Borrelia mayonii

  Kingry, L. C., Batra, D., Replogle, A., Rowe, L. A., Pritt, B. S. & Petersen, J. M., Dec 2016, In: PloS one. 11, 12, e0168994.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  23 Scopus citations

• Whole genome sequence analysis of blood lipid levels in >66,000 individuals

  NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2022, In: Nature communications. 13, 1, 5995.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

  Lin, B. M., Grinde, K. E., Brody, J. A., Breeze, C. E., Raffield, L. M., Mychaleckyj, J. C., Thornton, T. A., Perry, J. A., Baier, L. J., de las Fuentes, L., Guo, X., Heavner, B. D., Hanson, R. L., Hung, Y. J., Qian, H., Hsiung, C. A., Hwang, S. J., Irvin, M. R., Jain, D., Kelly, T. N., & 54 othersKobes, S., Lange, L., Lash, J. P., Li, Y., Liu, X., Mi, X., Musani, S. K., Papanicolaou, G. J., Parsa, A., Reiner, A. P., Salimi, S., Sheu, W. H. H., Shuldiner, A. R., Taylor, K. D., Smith, A. V., Smith, J. A., Tin, A., Vaidya, D., Wallace, R. B., Yamamoto, K., Sakaue, S., Matsuda, K., Kamatani, Y., Momozawa, Y., Yanek, L. R., Young, B. A., Zhao, W., Okada, Y., Abecasis, G., Psaty, B. M., Arnett, D. K., Boerwinkle, E., Cai, J., Yii-Der Chen, I., Correa, A., Cupples, L. A., He, J., Kardia, S. LR., Kooperberg, C., Mathias, R. A., Mitchell, B. D., Nickerson, D. A., Turner, S. T., Ramachandran, V. S., Rotter, J. I., Levy, D., Kramer, H. J., Köttgen, A., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, T-O. F. P. M. C., TOPMed Kidney Working Group, K. W. G., Rich, S. S., Lin, D. Y., Browning, S. R. & Franceschini, N., Jan 2021, In: EBioMedicine. 63, 103157.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole-genome scanning by array comparative genomic hybridization as a clinical tool for risk assessment in chronic lymphocytic leukemia

  Gunn, S. R., Mohammed, M. S., Gorre, M. E., Cotter, P. D., Kim, J., Bahler, D. W., Preobrazhensky, S. N., Higgins, R. A., Bolla, A. R., Ismail, S. H., De Jong, D., Eldering, E., Van Oers, M. H. J., Mellink, C. H. M., Keating, M. J., Schlette, E. J., Abruzzo, L. V. & Robetorye, R. S., Sep 2008, In: Journal of Molecular Diagnostics. 10, 5, p. 442-451 10 p.

  Research output: Contribution to journal › Article › peer-review
  69 Scopus citations

• Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes

  Porter, L. F., Saptarshi, N., Fang, Y., Rathi, S., Den Hollander, A. I., De Jong, E. K., Clark, S. J., Bishop, P. N., Olsen, T. W., Liloglou, T., Chavali, V. R. M. & Paraoan, L., Jan 14 2019, In: Clinical Epigenetics. 11, 1, 6.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  13 Scopus citations

• Whole Genome Mate-pair Sequencing of Plasma Cell Neoplasm as a Novel Diagnostic Strategy: A Case of Unrecognized t(2;11) Structural Variation

  Peterson, J. F., Meyer, R. G., Smoley, S. A., Webley, M., Smadbeck, J. B., Vasmatzis, G., Pearce, K., Greipp, P. T., Ketterling, R. P., Craig, F. E., Stewart, A. K. & Baughn, L. B., Sep 2019, In: Clinical Lymphoma, Myeloma and Leukemia. 19, 9, p. 598-602 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort

  Shen, L., Kim, S., Risacher, S. L., Nho, K., Swaminathan, S., West, J. D., Foroud, T., Pankratz, N., Moore, J. H., Sloan, C. D., Huentelman, M. J., Craig, D. W., DeChairo, B. M., Potkin, S. G., Jack, C. R., Weiner, M. W. & Saykin, A. J., Nov 2010, In: NeuroImage. 53, 3, p. 1051-1063 13 p.

  Research output: Contribution to journal › Article › peer-review
  244 Scopus citations

• Whole genome association study in a homogenous population in Shandong peninsula of China reveals JARID2 as a susceptibility gene for schizophrenia

  Chen, G., Liu, Y., Norton, N., Liu, W., Zhu, H., Zhou, P., Luan, M., Yang, S., Chen, X., Carroll, L., Williams, N. M., O'Donovan, M. C., Kirov, G. & Owen, M. J., 2009, In: Journal of Biomedicine and Biotechnology. 2009, 536918.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  28 Scopus citations

• Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from meta-analysis

  Webster, J., Reiman, E. M., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., Kaleem, M., Mastroeni, D., Grover, A., Rogers, J., Heun, R., & 12 othersJessen, F., Kölsch, H., Heward, C. B., Ravid, R., Hutton, M. L., Melquist, S., Petersen, R. C., Caselli, R. J., Papassotiropoulos, A., Stephan, D. A., Hardy, J. & Myers, A., 2010, In: International Journal of Molecular Epidemiology and Genetics. 1, 1, p. 19-30 12 p.

  Research output: Contribution to journal › Article › peer-review
  6 Scopus citations

• Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

  TOPMed Sleep Working Group & NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2021, In: Genome medicine. 13, 1, 136.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole genome approaches in ischemic stroke

  Meschia, J. F., Mar 2009, In: Stroke. 40, 3 SUPPL. 1, p. S61-S63

  Research output: Contribution to journal › Article › peer-review
  3 Scopus citations

• Whole-genome and Transcriptome Sequencing of Prostate Cancer Identify New Genetic Alterations Driving Disease Progression [Figure presented]

  Ren, S., Wei, G. H., Liu, D., Wang, L., Hou, Y., Zhu, S., Peng, L., Zhang, Q., Cheng, Y., Su, H., Zhou, X., Zhang, J., Li, F., Zheng, H., Zhao, Z., Yin, C., He, Z., Gao, X., Zhau, H. E., Chu, C. Y., & 42 othersWu, J. B., Collins, C., Volik, S. V., Bell, R., Huang, J., Wu, K., Xu, D., Ye, D., Yu, Y., Zhu, L., Qiao, M., Lee, H. M., Yang, Y., Zhu, Y., Shi, X., Chen, R., Wang, Y., Xu, W., Cheng, Y., Xu, C., Gao, X., Zhou, T., Yang, B., Hou, J., Liu, L., Zhang, Z., Zhu, Y., Qin, C., Shao, P., Pang, J., Chung, L. W. K., Xu, J., Wu, C. L., Zhong, W., Xu, X., Li, Y., Zhang, X., Wang, J., Yang, H., Wang, J., Huang, H. & Sun, Y., Mar 2018, In: European urology. 73, 3, p. 322-339 18 p.

  Research output: Contribution to journal › Article › peer-review
  52 Scopus citations

• Whole-genome analysis of sporadic amyotrophic lateral sclerosis

  Dunckley, T., Huentelman, M. J., Craig, D. W., Pearson, J. V., Szelinger, S., Joshipura, K., Halperin, R. F., Stamper, C., Jensen, K. R., Letizia, D., Hesterlee, S. E., Pestronk, A., Levine, T., Bertorini, T., Graves, M. C., Mozaffar, T., Jackson, C. E., Bosch, P., McVey, A., Dick, A., & 15 othersBarohn, R., Lomen-Hoerth, C., Rosenfeld, J., O'Connor, D. T., Zhang, K., Crook, R., Ryberg, H., Hutton, M., Katz, J., Simpson, E. P., Mitsumoto, H., Bowser, R., Miller, R. G., Appel, S. H. & Stephan, D. A., Aug 23 2007, In: New England Journal of Medicine. 357, 8, p. 775-788 14 p.

  Research output: Contribution to journal › Article › peer-review
  196 Scopus citations

• Whole-Genome Analysis of Histone H3 Lysine 4 and Lysine 27 Methylation in Human Embryonic Stem Cells

  Pan, G., Tian, S., Nie, J., Yang, C., Ruotti, V., Wei, H., Jonsdottir, G. A., Stewart, R. & Thomson, J. A., Sep 13 2007, In: Cell Stem Cell. 1, 3, p. 299-312 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole-genome analysis of an extensive drug-resistant acinetobacter baumannii ST195 isolate from a recipient after DCD renal transplantation in China

  Jiang, H., Cao, L., Shen, Q., Qu, L., Jiang, Y., Qu, T., Zhang, J., Lu, Y., Li, B., Zhu, C., Liu, G., Wang, R., Chen, M., Wang, Y., Wang, Y., Feng, S., Wang, J., Yu, Y., Wu, J. & Chen, J., 2017, In: Kidney and Blood Pressure Research. 42, 6, p. 1247-1257 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  1 Scopus citations

• Whole-genome analysis informs breast cancer response to aromatase inhibition

  Ellis, M. J., Ding, L., Shen, D., Luo, J., Suman, V. J., Wallis, J. W., Van Tine, B. A., Hoog, J., Goiffon, R. J., Goldstein, T. C., Ng, S., Lin, L., Crowder, R., Snider, J., Ballman, K., Weber, J., Chen, K., Koboldt, D. C., Kandoth, C., Schierding, W. S., & 39 othersMcMichael, J. F., Miller, C. A., Lu, C., Harris, C. C., McLellan, M. D., Wendl, M. C., Deschryver, K., Allred, D. C., Esserman, L., Unzeitig, G., Margenthaler, J., Babiera, G. V., Marcom, P. K., Guenther, J. M., Leitch, M., Hunt, K., Olson, J., Tao, Y., Maher, C. A., Fulton, L. L., Fulton, R. S., Harrison, M., Oberkfell, B., Du, F., Demeter, R., Vickery, T. L., Elhammali, A., Piwnica-Worms, H., McDonald, S., Watson, M., Dooling, D. J., Ota, D., Chang, L. W., Bose, R., Ley, T. J., Piwnica-Worms, D., Stuart, J. M., Wilson, R. K. & Mardis, E. R., Jun 21 2012, In: Nature. 486, 7403, p. 353-360 8 p.

  Research output: Contribution to journal › Article › peer-review
  749 Scopus citations

• Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21

  Matarin, M., Brown, W. M., Singleton, A., Hardy, J. A. & Meschia, J. F., May 1 2008, In: Stroke. 39, 5, p. 1586-1589 4 p.

  Research output: Contribution to journal › Article › peer-review
  131 Scopus citations

• Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements

  Egan, J. B., Barrett, M. T., Champion, M. D., Middha, S., Lenkiewicz, E., Evers, L., Francis, P., Schmidt, J., Shi, C. X., Van Wier, S., Badar, S., Ahmann, G., Kortuem, K. M., Boczek, N. J., Fonseca, R., Craig, D. W., Carpten, J. D., Borad, M. J. & Stewart, A. K., Feb 5 2014, In: PloS one. 9, 2, e87113.

  Research output: Contribution to journal › Article › peer-review
  11 Scopus citations

• Whole genome amplification of single epithelial cells dissociated from snap-frozen tissue samples in microfluidic platform

  Liu, Y., Yao, J. & Walther-Antonio, M., May 1 2019, In: Biomicrofluidics. 13, 3, 034109.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  4 Scopus citations

• Whole-exome tumor sequencing study in biliary cancer patients with a response to MEK inhibitors

  Ahn, D. H., Ozer, H. G., Hancioglu, B., Lesinski, G. B., Timmers, C. & Bekaii-Saab, T., 2016, In: Oncotarget. 7, 5, p. 5306-5312 7 p.

  Research output: Contribution to journal › Article › peer-review
  5 Scopus citations

• Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy

  Turkowski, K. L., Tester, D. J., Bos, J. M., Haugaa, K. H. & Ackerman, M. J., Mar 1 2017, In: Congenital Heart Disease. 12, 2, p. 226-235 10 p.

  Research output: Contribution to journal › Article › peer-review
  26 Scopus citations

• Whole-exome sequencing of transforming oral lichen planus reveals mutations in DNA damage repair and apoptosis pathway genes

  Xie, F., Gleue, C. A., Deschaine, M., Dasari, S., Lau, J. S., Sartori-Valinotti, J. C., Meves, A. & Lehman, J. S., Apr 2022, In: Journal of Oral Pathology and Medicine. 51, 4, p. 395-404 10 p.

  Research output: Contribution to journal › Article › peer-review

• Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer

  Felicio, P. S., Grasel, R. S., Campacci, N., de Paula, A. E., Galvão, H. C. R., Torrezan, G. T., Sabato, C. S., Fernandes, G. C., Souza, C. P., Michelli, R. D., Andrade, C. E., Barros, B. D. D. F., Matsushita, M. M., Revil, T., Ragoussis, J., Couch, F. J., Hart, S. N., Reis, R. M., Melendez, M. E., Tonin, P. N., & 2 othersCarraro, D. M. & Palmero, E. I., Mar 2021, In: Human mutation. 42, 3, p. 290-299 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  2 Scopus citations

• Whole-exome sequencing of long-term, never relapse exceptional responders of trastuzumab-treated HER2+ metastatic breast cancer

  Walsh, N., Andrieu, C., O’Donovan, P., Quinn, C., Maguire, A., Furney, S. J., Gullo, G. & Crown, J., Oct 13 2020, In: British journal of cancer. 123, 8, p. 1219-1222 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole exome sequencing of highly aggregated lung cancer families reveals linked loci for increased cancer risk on chromosomes 12q, 7p, and 4q

  Musolf, A. M., Moiz, B. A., Sun, H., Pikielny, C. W., Bosse, Y., Mandal, D., De Andrade, M., Gaba, C., Yang, P., Li, Y., You, M., Govindan, R., Wilson, R. K., Kupert, E. Y., Anderson, M. W., Schwartz, A. G., Pinney, S. M., Amos, C. I. & Bailey-Wilson, J. E., Feb 1 2020, In: Cancer Epidemiology Biomarkers and Prevention. 29, 2, p. 434-442 9 p.

  Research output: Contribution to journal › Article › peer-review
  1 Scopus citations

• Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma

  Manier, S., Park, J., Capelletti, M., Bustoros, M., Freeman, S. S., Ha, G., Rhoades, J., Liu, C. J., Huynh, D., Reed, S. C., Gydush, G., Salem, K. Z., Rotem, D., Freymond, C., Yosef, A., Perilla-Glen, A., Garderet, L., Van Allen, E. M., Kumar, S., Love, J. C., & 3 othersGetz, G., Adalsteinsson, V. A. & Ghobrial, I. M., Dec 1 2018, In: Nature communications. 9, 1, 1691.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  73 Scopus citations

• Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

  Blackburn, P. R., Selcen, D., Gass, J. M., Jackson, J. L., Macklin, S., Cousin, M. A., Boczek, N. J., Klee, E. W., Dimberg, E. L., Kennelly, K. D. & Atwal, P. S., May 2017, In: Molecular Genetics and Genomic Medicine. 5, 3, p. 295-302 8 p.

  Research output: Contribution to journal › Article › peer-review
  4 Scopus citations

• Whole exome sequencing of a patient with metastatic hidradenocarcinoma and review of the literature

  Gupta, E., Guthrie, K. J., Krishna, M., Asmann, Y., Parker, A. S. & Joseph, R. W., 2015, In: Rare Tumors. 7, 1, p. 29-33 5 p.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

• Whole-exome sequencing of a family with local anesthetic resistance

  Clendenen, N., Cannon, A. D., Porter, S., Robards, C. B., Parker, A. S. & Clendenen, S. R., Oct 2016, In: Minerva anestesiologica. 82, 10, p. 1089-1097 9 p.

  Research output: Contribution to journal › Article › peer-review
  7 Scopus citations

• Whole exome sequencing of a breast tumor in a patient with Diamond Blackfan anemia

  Narla, A., Ruddy, K. J., Ebert, B. L. & Mar, B., Jul 2021, In: Blood Cells, Molecules, and Diseases. 89, 102566.

  Research output: Contribution to journal › Letter › peer-review

• Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes

  Lindor, N. M., Schahl, K. A., Johnson, K. J., Hunt, K. S., Mensink, K. A., Wieben, E. D., Klee, E., Black, J. L., Highsmith, W. E., Thibodeau, S. N., Ferber, M. J., Aypar, U., Ji, Y., Graham, R. P., Fiksdal, A. S., Sarangi, V., Ormond, K. E., Riegert-Johnson, D. L., McAllister, T. M., Farrugia, G., & 1 othersMcCormick, J. B., Oct 2015, In: Mayo Clinic proceedings. 90, 10, p. 1327-1337 11 p., 1127.

  Research output: Contribution to journal › Article › peer-review
  9 Scopus citations

• Whole Exome Sequencing Leading to Novel Therapeutic Discovery

  Lazaridis, K. N. & Cheung, A. C., Oct 2018, In: Gastroenterology. 155, 4, p. 1264-1265 2 p.

  Research output: Contribution to journal › Comment/debate › peer-review
  1 Scopus citations

• Whole-exome sequencing in two extreme phenotypes of response to VEGF-targeted therapies in patients with metastatic clear cell renal cell carcinoma

  Fay, A. P., De Velasco, G., Ho, T. H., Van Allen, E. M., Murray, B., Albiges, L., Signoretti, S., Hakimi, A. A., Stanton, M. L., Bellmunt, J., McDermott, D. F., Atkins, M. B., Garraway, L. A., Kwiatkowski, D. J. & Choueiri, T. K., Jul 1 2016, In: JNCCN Journal of the National Comprehensive Cancer Network. 14, 7, p. 820-824 5 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  20 Scopus citations

• Whole-exome sequencing in the clinic: Lessons from six consecutive cases from the clinician's perspective

  Volk, A., Conboy, E., Wical, B., Patterson, M. & Kirmani, S., Mar 6 2015, In: Molecular Syndromology. 6, 1, p. 23-31 9 p.

  Research output: Contribution to journal › Review article › peer-review
  20 Scopus citations

• Whole exome sequencing in 75 high-risk families with validation and replication in independent case-control studies identifies TANGO2, OR5H14, and CHAD as new prostate cancer susceptibility genes

  Karyadi, D. M., Geybels, M. S., Karlins, E., Decker, B., McIntosh, L., Hutchinson, A., Kolb, S., McDonnell, S. K., Hicks, B., Middha, S., FitzGerald, L. M., DeRycke, M. S., Yeager, M., Schaid, D. J., Chanock, S. J., Thibodeau, S. N., Berndt, S. I., Stanford, J. L. & Ostrander, E. A., 2017, In: Oncotarget. 8, 1, p. 1495-1507 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  8 Scopus citations

• Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness

  Shameer, K., Klee, E. W., Dalenberg, A. K. & Kullo, I. J., Oct 1 2014, In: Circulation: Cardiovascular Genetics. 7, 5, p. 607-614 8 p.

  Research output: Contribution to journal › Article › peer-review
  14 Scopus citations

• Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

  The NHLBI Grand Opportunity Exome Sequencing Project, Feb 6 2014, In: American journal of human genetics. 94, 2, p. 233-245 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  152 Scopus citations

• Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient

  Gass, J., Blackburn, P., Jackson, J., Harris, K., Selcen, D., Dimberg, E. & Atwal, P., Mar 1 2017, In: Journal of clinical neuromuscular disease. 18, 3, p. 152-156 5 p.

  Research output: Contribution to journal › Article › peer-review
  2 Scopus citations

• Whole-exome sequencing for variant discovery in blepharospasm

  Tian, J., Vemula, S. R., Xiao, J., Valente, E. M., Defazio, G., Petrucci, S., Gigante, A. F., Rudzińska-Bar, M., Wszolek, Z. K., Kennelly, K. D., Uitti, R. J., van Gerpen, J. A., Hedera, P., Trimble, E. J. & LeDoux, M. S., Jul 2018, In: Molecular Genetics and Genomic Medicine. 6, 4, p. 601-626 26 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  15 Scopus citations

• Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

  Tacik, P., Guthrie, K. J., Strongosky, A. J., Broderick, D. F., Riegert-Johnson, D. L., Tang, S., El-Khechen, D., Parker, A. S., Ross, O. A. & Wszolek, Z. K., Mar 2015, In: Mayo Clinic proceedings. 90, 3, p. 366-371 6 p.

  Research output: Contribution to journal › Article › peer-review
  10 Scopus citations

• Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment

  Nho, K., Corneveaux, J. J., Kim, S., Lin, H., Risacher, S. L., Shen, L., Swaminathan, S., Ramanan, V. K., Liu, Y., Foroud, T., Inlow, M. H., Siniard, A. L., Reiman, R. A., Aisen, P. S., Petersen, R. C., Green, R. C., Jack, C. R., Weiner, M. W., Baldwin, C. T., Lunetta, K., & 14 othersFarrer, L. A., Furney, S. J., Lovestone, S., Simmons, A., Mecocci, P., Vellas, B., Tsolaki, M., Kloszewska, I., Soininen, H., McDonald, B. C., Farlow, M. R., Ghetti, B., Huentelman, M. J. & Saykin, A. J., Jul 2013, In: Molecular Psychiatry. 18, 7, p. 781-787 7 p.

  Research output: Contribution to journal › Article › peer-review
  61 Scopus citations

• Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child with Congenital Hypotonia and Developmental Delay

  Weyhrauch, D. L., Ye, D., Boczek, N. J., Tester, D. J., Gavrilova, R. H., Patterson, M. C., Wieben, E. D. & Ackerman, M. J., Feb 1 2016, In: Pediatric Neurology. 55, p. 46-51 6 p.

  Research output: Contribution to journal › Article › peer-review
  15 Scopus citations

• Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: Response to Letter to the Editor

  Rakela, J., Dehankar, M. K. & Baheti, S., Aug 1 2020, In: Clinical and translational gastroenterology. 11, 8, p. e00187

  Research output: Contribution to journal › Letter › peer-review

  Open Access

• Whole Exome Sequencing Among 26 Patients With Indeterminate Acute Liver Failure: A Pilot Study

  Acute Liver Failure Study Group, Oct 1 2019, In: Clinical and translational gastroenterology. 10, 10, p. e00087

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome

  Ackerman, J. P., Smestad, J. A., Tester, D. J., Qureshi, M. Y., Crabb, B. A., Mendelsohn, N. J. & Ackerman, M. J., Sep 1 2016, In: Congenital Heart Disease. 11, 5, p. 452-461 10 p.

  Research output: Contribution to journal › Article › peer-review
  7 Scopus citations

• Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; The Atherosclerosis Risk in Communities-Neurocognitive Study

  Simino, J., Wang, Z., Bressler, J., Chouraki, V., Yang, Q., Younkin, S. G., Seshadri, S., Fornage, M., Boerwinkle, E. & Mosley, T. H., Jul 2017, In: PloS one. 12, 7, e0180046.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  4 Scopus citations

• Whole-exome molecular autopsy after exertion-related sudden unexplained death in the young

  Anderson, J. H., Tester, D. J., Will, M. L. & Ackerman, M. J., Jun 1 2016, In: Circulation: Cardiovascular Genetics. 9, 3, p. 259-265 7 p.

  Research output: Contribution to journal › Article › peer-review
  53 Scopus citations

• Whole-exome analysis reveals novel somatic genomic alterations associated with outcome in immunochemotherapytreated diffuse large B-cell lymphoma

  Novak, A. J., Asmann, Y. W., Maurer, M. J., Wang, C., Slager, S. L., Hodge, L. S., Manske, M., Price-Troska, T., Yang, Z. Z., Zimmermann, M. T., Nowakowski, G. S., Ansell, S. M., Witzig, T. E., McPhail, E., Ketterling, R., Feldman, A. L., Dogan, A., Link, B. K., Habermann, T. M. & Cerhan, J. R., Aug 14 2015, In: Blood cancer journal. 5, 8, e346.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  42 Scopus citations

• Whole-exome analysis reveals novel somatic genomic alterations associated with cell of origin in diffuse large B-cell lymphoma

  Manso, B. A., Wenzl, K., Asmann, Y. W., Maurer, M. J., Manske, M., Yang, Z. Z., Slager, S. L., Nowakowski, G. S., Ansell, S. M., Witzig, T. E., Feldman, A. L., Rimsza, L., Link, B., Cerhan, J. R. & Novak, A. J., 2017, In: Blood cancer journal. 7, 4, e553.

  Research output: Contribution to journal › Letter › peer-review
  7 Scopus citations

• Whole Chromosome Instability Caused by Bub1 Insufficiency Drives Tumorigenesis through Tumor Suppressor Gene Loss of Heterozygosity

  Baker, D. J., Jin, F., Jeganathan, K. B. & van Deursen, J. M., Dec 8 2009, In: Cancer cell. 16, 6, p. 475-486 12 p.

  Research output: Contribution to journal › Article › peer-review
  161 Scopus citations