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• Whole-Genome Sequencing of Klebsiella pneumoniae Isolates to Track Strain Progression in a Single Patient With Recurrent Urinary Tract Infection

  Wylie, K. M., Wylie, T. N., Minx, P. J. & Rosen, D. A., Feb 8 2019, In: Frontiers in cellular and infection microbiology. 9, 14.

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

  Open Access
  7 Scopus citations

• Whole genome sequencing of experimental hybrids supports meiosis-like sexual recombination in leishmania

  Inbar, E., Shaik, J., Iantorno, S. A., Romano, A., Nzelu, C. O., Owens, K., Sanders, M. J., Dobson, D., Cotton, J. A., Grigg, M. E., Beverley, S. M. & Sacks, D., May 2019, In: PLoS genetics. 15, 5, e1008042.

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

  Open Access
  40 Scopus citations

• Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

  The Alzheimer's Disease Sequencing Project, Apr 1 2018, In: Annals of Clinical and Translational Neurology. 5, 4, p. 406-417 12 p.

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

  Open Access
  23 Scopus citations

• Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease

  Somineni, H. K., Nagpal, S., Venkateswaran, S., Cutler, D. J., Okou, D. T., Haritunians, T., Simpson, C. L., Begum, F., Datta, L. W., Quiros, A. J., Seminerio, J., Mengesha, E., Alexander, J. S., Baldassano, R. N., Dudley-Brown, S., Cross, R. K., Dassopoulos, T., Denson, L. A., Dhere, T. A., Iskandar, H., & 38 othersDryden, G. W., Hou, J. K., Hussain, S. Z., Hyams, J. S., Isaacs, K. L., Kader, H., Kappelman, M. D., Katz, J., Kellermayer, R., Kuemmerle, J. F., Lazarev, M., Li, E., Mannon, P., Moulton, D. E., Newberry, R. D., Patel, A. S., Pekow, J., Saeed, S. A., Valentine, J. F., Wang, M. H., McCauley, J. L., Abreu, M. T., Jester, T., Molle-Rios, Z., Palle, S., Scherl, E. J., Kwon, J., Rioux, J. D., Duerr, R. H., Silverberg, M. S., Zwick, M. E., Stevens, C., Daly, M. J., Cho, J. H., Gibson, G., McGovern, D. P. B., Brant, S. R. & Kugathasan, S., Mar 4 2021, In: American journal of human genetics. 108, 3, p. 431-445 15 p.

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

  Open Access
  8 Scopus citations

• Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas

  Zhang, J., Wu, G., Miller, C. P., Tatevossian, R. G., Dalton, J. D., Tang, B., Orisme, W., Punchihewa, C., Parker, M., Qaddoumi, I., Boop, F. A., Lu, C., Kandoth, C., Ding, L., Lee, R., Huether, R., Chen, X., Hedlund, E., Nagahawatte, P., Rusch, M., & 28 othersBoggs, K., Cheng, J., Becksfort, J., Ma, J., Song, G., Li, Y., Wei, L., Wang, J., Shurtleff, S., Easton, J., Zhao, D., Fulton, R. S., Fulton, L. L., Dooling, D. J., Vadodaria, B., Mulder, H. L., Tang, C., Ochoa, K., Mullighan, C. G., Gajjar, A., Kriwacki, R., Sheer, D., Gilbertson, R. J., Mardis, E. R., Wilson, R. K., Downing, J. R., Baker, S. J. & Ellison, D. W., Jun 2013, In: Nature Genetics. 45, 6, p. 602-612 11 p.

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

• Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma

  National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium, Dec 2019, In: CHEST. 156, 6, p. 1068-1079 12 p.

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

• Whole Genome Sequencing Identifies a Deletion in Protein Phosphatase 2A That Affects Its Stability and Localization in Chlamydomonas reinhardtii

  Lin, H., Miller, M. L., Granas, D. M. & Dutcher, S. K., Sep 2013, In: PLoS genetics. 9, 9, e1003841.

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

  Open Access
  31 Scopus citations

• Whole genome sequencing for genomics-guided investigations of Escherichia coli O157:H7 outbreaks

  Rusconi, B., Sanjar, F., Koenig, S. S. K., Mammel, M. K., Tarr, P. I. & Eppinger, M., 2016, In: Frontiers in Microbiology. 7, JUN, 985.

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

  Open Access
  35 Scopus citations

• Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits

  SpiroMeta Consortium, Jun 1 2017, In: American journal of human genetics. 100, 6, p. 865-884 20 p.

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

  Open Access
  78 Scopus citations

• Whole genome sequencing-based mapping and candidate identification of mutations from fixed zebrafish tissue

  Sanchez, N. E., Harty, B. L., O'Reilly-Pol, T., Ackerman, S. D., Herbert, A. L., Holmgren, M., Johnson, S. L., Gray, R. S. & Monk, K. R., Oct 1 2017, In: G3: Genes, Genomes, Genetics. 7, 10, p. 3415-3425 11 p.

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

  Open Access
  5 Scopus citations

• Whole-genome sequencing and variant discovery in C. elegans

  Hillier, L. D. W., Marth, G. T., Quinlan, A. R., Dooling, D., Fewell, G., Barnett, D., Fox, P., Glasscock, J. I., Hickenbotham, M., Huang, W., Magrini, V. J., Richt, R. J., Sander, S. N., Stewart, D. A., Stromberg, M., Tsung, E. F., Wylie, T., Schedl, T., Wilson, R. K. & Mardis, E. R., Feb 2008, In: Nature Methods. 5, 2, p. 183-188 6 p.

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

• Whole-genome sequencing and acute promyelocytic leukemia - Reply

  Westervelt, P., Welch, J. S. & Ley, T. J., Aug 10 2011, In: JAMA. 306, 6, p. 610-611 2 p.

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

• Whole-genome sequence variation among multiple isolates of Pseudomonas aeruginosa

  Spencer, D. H., Kas, A., Smith, E. E., Raymond, C. K., Sims, E. H., Hastings, M., Burns, J. L., Kaul, R. & Olson, M. V., Feb 2003, In: Journal of bacteriology. 185, 4, p. 1316-1325 10 p.

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

• Whole genome sequences of three Treponema pallidum ssp. pertenue strains: Yaws and syphilis treponemes differ in less than 0.2% of the genome sequence

  Čejková, D., Zobaníková, M., Chen, L., Pospíšilová, P., Strouhal, M., Qin, X., Mikalová, L., Norris, S. J., Muzny, D. M., Gibbs, R. A., Fulton, L. L., Sodergren, E., Weinstock, G. M. & Šmajs, D., Jan 2012, In: PLoS neglected tropical diseases. 6, 1, e1471.

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

  Open Access
  79 Scopus citations

• Whole Genome Sequence of the Treponema pallidum subsp. endemicum Strain Bosnia A: The Genome Is Related to Yaws Treponemes but Contains Few Loci Similar to Syphilis Treponemes

  Štaudová, B., Strouhal, M., Zobaníková, M., Čejková, D., Fulton, L. L., Chen, L., Giacani, L., Centurion-Lara, A., Bruisten, S. M., Sodergren, E., Weinstock, G. M. & Šmajs, D., 2014, In: PLoS neglected tropical diseases. 8, 11

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

  Open Access
  36 Scopus citations

• Whole Genome Sequence of the Treponema Fribourg-Blanc: Unspecified Simian Isolate Is Highly Similar to the Yaws Subspecies

  Zobaníková, M., Strouhal, M., Mikalová, L., Čejková, D., Ambrožová, L., Pospíšilová, P., Fulton, L. L., Chen, L., Sodergren, E., Weinstock, G. M. & Šmajs, D., Apr 2013, In: PLoS neglected tropical diseases. 7, 4, e2172.

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

  Open Access
  40 Scopus citations

• Whole genome sequence of multiple myeloma-prone C57BL/KaLwRij mouse strain suggests the origin of disease involves multiple cell types

  Amend, S. R., Wilson, W. C., Chu, L., Lu, L., Liu, P., Serie, D., Su, X., Xu, Y., Wang, D., Gramolini, A., Wen, X. Y., O'Neal, J., Hurchla, M., Vachon, C. M., Colditz, G., Vij, R., Weilbaecher, K. N. & Tomasson, M. H., May 28 2015, In: PloS one. 10, 5, e0127828.

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

  Open Access
  19 Scopus citations

• Whole genome sequence analysis of the simulated systolic blood pressure in Genetic Analysis Workshop 18 family data: Long-term average and collapsing methods

  Sung, Y. J., Basson, J. & Rao, D. C., Jun 17 2014, In: BMC Proceedings. 8, S12.

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

  Open Access
  4 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
  6 Scopus citations

• Whole-genome profiling of DNA methylation and hydroxymethylation identifies distinct regulatory programs among innate lymphocytes

  Peng, V., Xing, X., Bando, J. K., Trsan, T., Di Luccia, B., Collins, P. L., Li, D., Wang, W. L., Lee, H. J., Oltz, E. M., Wang, T. & Colonna, M., Apr 2022, In: Nature immunology. 23, 4, p. 619-631 13 p.

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

• Whole genome linkage scan of recurrent depressive disorder from the depression network study

  McGuffin, P., Knight, J., Breen, G., Brewster, S., Boyd, P. R., Craddock, N., Gill, M., Korszun, A., Maier, W., Middleton, L., Mors, O., Owen, M. J., Perry, J., Preisig, M., Reich, T., Rice, J., Rietschel, M., Jones, L., Sham, P. & Farmer, A. E., Nov 15 2005, In: Human molecular genetics. 14, 22, p. 3337-3345 9 p.

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

  Open Access
  129 Scopus citations

• Whole-genome draft sequences of 26 enterohemorrhagic Escherichia coli O157:H7 strains

  Eppinger, M., Daugherty, S., Agrawal, S., Galens, K., Sengamalay, N., Sadzewicz, L., Tallon, L., Cebula, T. A., Mammel, M. K., Feng, P., Soderlund, R., Tarr, P. I., DebRoy, C., Dudley, E. G., Fraser, C. M. & Ravel, J., 2013, In: Genome Announcements. 1, 2, e00134-12.

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

  Open Access
  13 Scopus citations

• Whole-Genome DNA Methylation Profiling Identifies Epigenetic Signatures of Uterine Carcinosarcoma

  Li, J., Xing, X., Li, D., Zhang, B., Mutch, D. G., Hagemann, I. S. & Wang, T., 2017, In: Neoplasia (United States). 19, 2, p. 100-111 12 p.

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

  Open Access
  20 Scopus citations

• Whole genome co-expression analysis of soybean cytochrome P450 genes identifies nodulation-specific P450 monooxygenases

  Guttikonda, S. K., Trupti, J., Bisht, N. C., Chen, H., An, Y. Q. C., Pandey, S., Xu, D. & Yu, O., Nov 9 2010, In: BMC Plant Biology. 10, 243.

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

  Open Access
  72 Scopus citations

• Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway

  TCGA Research Network, Feb 2 2021, In: Cell Reports. 34, 5, 108707.

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

  Open Access
  10 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
  2 Scopus citations

• Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome

  King, K. A., Wegner, D. J., Bucelli, R. C., Shapiro, J., Paul, A. J., Dickson, P. I. & Wambach, J. A., Dec 1 2022, In: Neurology: Genetics. 8, 6, e200036.

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

  Open Access

• 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

  Open Access
  211 Scopus citations

• Whole genome analysis of a schistosomiasis-transmitting freshwater snail

  Adema, C. M., Hillier, L. D. W., Jones, C. S., Loker, E. S., Knight, M., Minx, P., Oliveira, G., Raghavan, N., Shedlock, A., Do Amaral, L. R., Arican-Goktas, H. D., Assis, J. G., Baba, E. H., Baron, O. L., Bayne, C. J., Bickham-Wright, U., Biggar, K. K., Blouin, M., Bonning, B. C., Botka, C., & 97 othersBridger, J. M., Buckley, K. M., Buddenborg, S. K., Lima Caldeira, R., Carleton, J., Carvalho, O. S., Castillo, M. G., Chalmers, I. W., Christensens, M., Clifton, S., Cosseau, C., Coustau, C., Cripps, R. M., Cuesta-Astroz, Y., Cummins, S. F., DI Stephano, L., DInguirard, N., Duval, D., Emrich, S., Feschotte, C., Feyereisen, R., Fitzgerald, P., Fronick, C., Fulton, L., Galinier, R., Gava, S. G., Geusz, M., Geyer, K. K., Giraldo-Calderón, G. I., De Souza Gomes, M., Gordy, M. A., Gourbal, B., Grunau, C., Hanington, P. C., Hoffmann, K. F., Hughes, D., Humphries, J., Jackson, D. J., Jannotti-Passos, L. K., De Jesus Jeremias, W., Jobling, S., Kamel, B., Kapusta, A., Kaur, S., Koene, J. M., Kohn, A. B., Lawson, D., Lawton, S. P., Liang, D., Limpanont, Y., Liu, S., Lockyer, A. E., Lovato, T. A. L., Ludolf, F., Magrini, V., McManus, D. P., Medina, M., Misra, M., Mitta, G., Mkoji, G. M., Montague, M. J., Montelongo, C., Moroz, L. L., Munoz-Torres, M. C., Niazi, U., Noble, L. R., Oliveira, F. S., Pais, F. S., Papenfuss, A. T., Peace, R., Pena, J. J., Pila, E. A., Quelais, T., Raney, B. J., Rast, J. P., Rollinson, D., Rosse, I. C., Rotgans, B., Routledge, E. J., Ryan, K. M., Scholte, L. L. S., Storey, K. B., Swain, M., Tennessen, J. A., Tomlinson, C., Trujillo, D. L., Volpi, E. V., Walker, A. J., Wang, T., Wannaporn, I., Warren, W. C., Wu, X. J., Yoshino, T. P., Yusuf, M., Zhang, S. M., Zhao, M. & Wilson, R. K., May 16 2017, In: Nature communications. 8, 15451.

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

  Open Access
  151 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

  Open Access
  820 Scopus citations

• Whole-gene sequencing investigation of SAT1 in attempted suicide

  Monson, E. T., de Klerk, K., Gaynor, S. C., Wagner, A. H., Breen, M. E., Parsons, M., Casavant, T. L., Zandi, P. P., Potash, J. B. & Willour, V. L., Sep 1 2016, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 171, 6, p. 888-895 8 p.

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

• Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

  Alzheimer’s Disease Sequencing Project, Aug 1 2020, In: Molecular Psychiatry. 25, 8, p. 1859-1875 17 p.

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

  Open Access
  114 Scopus citations

• Whole exome sequencing reveals the order of genetic changes during malignant transformation and metastasis in a single patient with NF1-plexiform neurofibroma

  Hirbe, A. C., Dahiya, S., Miller, C. A., Li, T., Fulton, R. S., Zhang, X., McDonald, S., DeSchryver, K., Duncavage, E. J., Walrath, J., Reilly, K. M., Abel, H. J., Pekmezci, M., Perry, A., Ley, T. J. & Gutmann, D. H., Sep 15 2015, In: Clinical Cancer Research. 21, 18, p. 4201-4211 11 p.

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

• Whole exome sequencing reveals the maintained polyclonal nature from primary to metastatic malignant peripheral nerve sheath tumor in two patients with NF1

  Godec, A., Jayasinghe, R., Chrisinger, J. S. A., Prudner, B., Ball, T., Wang, Y., Srihari, D., Kaushal, M., Dietz, H., Zhang, X., Pekmezci, M., Dahiya, S., Tao, Y., Luo, J., Van Tine, B. A., Ding, L., Gutmann, D. H. & Hirbe, A. C., Jul 1 2020, In: Neuro-Oncology Advances. 2, p. I75-I84

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

  Open Access
  1 Scopus citations

• Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

  Dong, W., Wong, K. H. Y., Liu, Y., Levy-Sakin, M., Hung, W. C., Li, M., Li, B., Jin, S. C., Choi, J., Lopez-Giraldez, F., Vaka, D., Poon, A., Chu, C., Lao, R., Balamir, M., Movsesyan, I., Malloy, M. J., Zhao, H., Kwok, P. Y., Kane, J. P., & 2 othersLifton, R. P. & Pullinger, C. R., Jun 2022, In: Journal of lipid research. 63, 6, 100209.

  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
  7 Scopus citations

• Whole-exome sequencing of familial esophageal squamous cell carcinoma identified rare pathogenic variants in new predisposition genes

  Golyan, F. F., Druley, T. E. & Abbaszadegan, M. R., May 1 2020, In: Clinical and Translational Oncology. 22, 5, p. 681-693 13 p.

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

• Whole exome sequencing in patients with Williams–Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk

  Parrish, P. C. R., Liu, D., Knutsen, R. H., Billington, C. J., Mecham, R. P., Fu, Y. P. & Kozel, B. A., 2021, In: Human molecular genetics. 29, 12, p. 2035-2050 16 p.

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

  Open Access
  10 Scopus citations

• Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

  Quiggle, A., Charng, W. L., Antunes, L., Nikolov, M., Bledsoe, X., Hecht, J. T., Dobbs, M. B. & Gurnett, C. A., Feb 1 2022, In: Clinical orthopaedics and related research. 480, 2, p. 421-430 10 p.

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

  Open Access
  2 Scopus citations

• Whole-exome sequencing in familial Parkinson disease

  Farlow, J. L., Robak, L. A., Hetrick, K., Bowling, K., Boerwinkle, E., Coban-Akdemir, Z. H., Gambin, T., Gibbs, R. A., Gu, S., Jain, P., Jankovic, J., Jhangiani, S., Kaw, K., Lai, D., Lin, H., Ling, H., Liu, Y., Lupski, J. R., Muzny, D., Porter, P., & 6 othersPugh, E., White, J., Doheny, K., Myers, R. M., Shulman, J. M. & Foroud, T., Jan 2016, In: JAMA Neurology. 73, 1, p. 68-75 8 p.

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

  Open Access
  48 Scopus citations

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

  The NHLBI Grand Opportunity Exome Sequencing Project & Locke, A., 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
  170 Scopus citations

• Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

  Yu, Y., Triebwasser, M. P., Wong, E. K. S., Schramm, E. C., Thomas, B., Reynolds, R., Mardis, E. R., Atkinson, J. P., Daly, M., Raychaudhuri, S., Kavanagh, D. & Seddon, J. M., Oct 1 2014, In: Human molecular genetics. 23, 19, p. 5283-5293 11 p.

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

  Open Access
  80 Scopus citations

• Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

  Campeau, P. M., Lu, J. T., Sule, G., Jiang, M. M., Bae, Y., Madan, S., Högler, W., Shaw, N. J., Mumm, S., Gibbs, R. A., Whyte, M. P. & Lee, B. H., Nov 2012, In: Human molecular genetics. 21, 22, p. 4904-4909 6 p., dds326.

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

  Open Access
  72 Scopus citations

• Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

  Yu, L., Bennett, J. T., Wynn, J., Carvill, G. L., Cheung, Y. H., Shen, Y., Mychaliska, G. B., Azarow, K. S., Crombleholme, T. M., Chung, D. H., Potoka, D., Warner, B. W., Bucher, B., Lim, F. Y., Pietsch, J., Stolar, C., Aspelund, G., Arkovitz, M. S., Mefford, H. & Chung, W. K., 2014, In: Journal of Medical Genetics. 51, 3, p. 197-202 6 p.

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

• Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene

  Juhlin, C. C., Stenman, A., Haglund, F., Clark, V. E., Brown, T. C., Baranoski, J., Bilguvar, K., Goh, G., Welander, J., Svahn, F., Rubinstein, J. C., Caramuta, S., Yasuno, K., Günel, M., Bäckdahl, M., Gimm, O., Söderkvist, P., Prasad, M. L., Korah, R., Lifton, R. P., & 1 othersCarling, T., Sep 1 2015, In: Genes Chromosomes and Cancer. 54, 9, p. 542-554 13 p.

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

  Open Access
  49 Scopus citations

• Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma

  Juhlin, C. C., Goh, G., Healy, J. M., Fonseca, A. L., Scholl, U. I., Stenman, A., Kunstman, J. W., Brown, T. C., Overton, J. D., Mane, S. M., Nelson-Williams, C., Bäckdahl, M., Suttorp, A. C., Haase, M., Choi, M., Schlessinger, J., Rimm, D. L., Höög, A., Prasad, M. L., Korah, R., & 3 othersLarsson, C., Lifton, R. P. & Carling, T., Mar 1 2015, In: Journal of Clinical Endocrinology and Metabolism. 100, 3, p. E493-E502

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

  Open Access
  115 Scopus citations

• Whole-Exome Sequencing and hiPSC Cardiomyocyte Models Identify MYRIP, TRAPPC11, and SLC27A6 of Potential Importance to Left Ventricular Hypertrophy in an African Ancestry Population

  Irvin, M. R., Aggarwal, P., Claas, S. A., de las Fuentes, L., Do, A. N., Gu, C. C., Matter, A., Olson, B. S., Patki, A., Schwander, K., Smith, J. D., Srinivasasainagendra, V., Tiwari, H. K., Turner, A. J., Nickerson, D. A., Rao, D. C., Broeckel, U. & Arnett, D. K., Feb 19 2021, In: Frontiers in Genetics. 12, 588452.

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

  Open Access

• Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

  Luna, S. E., Wegner, D. J., Gale, S., Yang, P., Hollander, A., St. Dennis-Feezle, L., Nabhan, Z. M., Ory, D. S., Cole, F. S. & Wambach, J. A., Sep 2021, In: Journal of Steroid Biochemistry and Molecular Biology. 212, 105908.

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

• Whole-exome sequencing and an iPSC-derived cardiomyocyte model provides a powerful platform for gene discovery in left ventricular hypertrophy

  Zhi, D., lrvin, M. R., Gu, C. C., Stoddard, A. J., Lorier, R., Matter, A., Rao, D. C., Srinivasasainagendra, V., Tiwari, H. K., Turner, A., Broeckel, U. & Arnett, D. K., 2012, In: Frontiers in Genetics. 3, MAY, Article 92.

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

  Open Access
  17 Scopus citations