Works matching AU Muzny, Donna M.

Results: 100
    1

    A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 604, doi. 10.1002/mgg3.237
    By:
    • Sorte, Hanne S.;
    • Osnes, Liv T.;
    • Fevang, Børre;
    • Aukrust, Pål;
    • Erichsen, Hans C.;
    • Backe, Paul H.;
    • Abrahamsen, Tore G.;
    • Kittang, Ole B.;
    • Øverland, Torstein;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Vigeland, Magnus D.;
    • Samarakoon, Pubudu;
    • Gambin, Tomasz;
    • Akdemir, Zeynep H. C.;
    • Gibbs, Richard A.;
    • Rødningen, Olaug K.;
    • Lyle, Robert;
    • Lupski, James R.;
    • Stray ‐ Pedersen, Asbjørg
    Publication type:
    Article
    2

    Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

    Published in:
    Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 1, p. 77, doi. 10.1002/mgg3.181
    By:
    • Boone, Philip M.;
    • Yuan, Bo;
    • Gu, Shen;
    • Ma, Zhiwei;
    • Gambin, Tomasz;
    • Gonzaga‐Jauregui, Claudia;
    • Jain, Mahim;
    • Murdock, Todd J.;
    • White, Janson J.;
    • Jhangiani, Shalini N.;
    • Walker, Kimberly;
    • Wang, Qiaoyan;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Hejtmancik, J. Fielding;
    • Lupski, James R.;
    • Posey, Jennifer E.;
    • Lewis, Richard A.
    Publication type:
    Article
    3

    Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 12, p. 1491, doi. 10.1001/jamaneurol.2013.4598
    By:
    • Gonzaga-Jauregui, Claudia;
    • Lotze, Timothy;
    • Jamal, Leila;
    • Penney, Samantha;
    • Campbell, Ian M.;
    • Pehlivan, Davut;
    • Hunter, Jill V.;
    • Woodbury, Suzanne L.;
    • Raymond, Gerald;
    • Adesina, Adekunle M.;
    • Jhangiani, Shalini N.;
    • Reid, Jeffrey G.;
    • Muzny, Donna M.;
    • Boerwinkle, Eric;
    • Lupski, James R.;
    • Gibbs, Richard A.;
    • Wiszniewski, Wojciech
    Publication type:
    Article
    4

    Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.

    Published in:
    Pediatric Diabetes, 2014, v. 15, n. 3, p. 252, doi. 10.1111/pedi.12086
    By:
    • Shalev, Stavit A;
    • Tenenbaum‐Rakover, Yardena;
    • Horovitz, Yoseph;
    • Paz, Veronica P;
    • Ye, Honggang;
    • Carmody, David;
    • Highland, Heather M;
    • Boerwinkle, Eric;
    • Hanis, Craig L;
    • Muzny, Donna M;
    • Gibbs, Richard A;
    • Bell, Graeme I;
    • Philipson, Louis H;
    • Greeley, Siri Atma W
    Publication type:
    Article
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    8

    Long read sequencing and expression studies of AHDC1 deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2033, doi. 10.1002/humu.24461
    By:
    • Chander, Varuna;
    • Mahmoud, Medhat;
    • Hu, Jianhong;
    • Dardas, Zain;
    • Grochowski, Christopher M.;
    • Dawood, Moez;
    • Khayat, Michael M.;
    • Li, He;
    • Li, Shoudong;
    • Jhangiani, Shalini;
    • Korchina, Viktoriya;
    • Shen, Hua;
    • Weissenberger, George;
    • Meng, Qingchang;
    • Gingras, Marie‐Claude;
    • Muzny, Donna M.;
    • Doddapaneni, Harsha;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Sabo, Aniko
    Publication type:
    Article
    9

    Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breeds.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02809-1
    By:
    • Naval-Sanchez, Marina;
    • Nguyen, Quan;
    • McWilliam, Sean;
    • Porto-Neto, Laercio R.;
    • Tellam, Ross;
    • Vuocolo, Tony;
    • Reverter, Antonio;
    • Perez-Enciso, Miguel;
    • Brauning, Rudiger;
    • Clarke, Shannon;
    • McCulloch, Alan;
    • Zamani, Wahid;
    • Naderi, Saeid;
    • Rezaei, Hamid Reza;
    • Pompanon, Francois;
    • Taberlet, Pierre;
    • Worley, Kim C.;
    • Gibbs, Richard A.;
    • Muzny, Donna M.;
    • Jhangiani, Shalini N.
    Publication type:
    Article
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    Comprehensive molecular characterization of human colon and rectal cancer.

    Published in:
    Nature, 2012, v. 487, n. 7407, p. 330, doi. 10.1038/nature11252
    By:
    • Muzny, Donna M.;
    • Bainbridge, Matthew N.;
    • Chang, Kyle;
    • Dinh, Huyen H.;
    • Drummond, Jennifer A.;
    • Fowler, Gerald;
    • Kovar, Christie L.;
    • Lewis, Lora R.;
    • Morgan, Margaret B.;
    • Newsham, Irene F.;
    • Reid, Jeffrey G.;
    • Santibanez, Jireh;
    • Shinbrot, Eve;
    • Trevino, Lisa R.;
    • Wu, Yuan-Qing;
    • Wang, Min;
    • Gunaratne, Preethi;
    • Donehower, Lawrence A.;
    • Creighton, Chad J.;
    • Wheeler, David A.
    Publication type:
    Article
    13

    Structure, function and diversity of the healthy human microbiome.

    Published in:
    Nature, 2012, v. 486, n. 7402, p. 207, doi. 10.1038/nature11234
    By:
    • Huttenhower, Curtis;
    • Gevers, Dirk;
    • Knight, Rob;
    • Abubucker, Sahar;
    • Badger, Jonathan H.;
    • Chinwalla, Asif T.;
    • Creasy, Heather H.;
    • Earl, Ashlee M.;
    • FitzGerald, Michael G.;
    • Fulton, Robert S.;
    • Giglio, Michelle G.;
    • Hallsworth-Pepin, Kymberlie;
    • Lobos, Elizabeth A.;
    • Madupu, Ramana;
    • Magrini, Vincent;
    • Martin, John C.;
    • Mitreva, Makedonka;
    • Muzny, Donna M.;
    • Sodergren, Erica J.;
    • Versalovic, James
    Publication type:
    Article
    14

    Comparative and demographic analysis of orang-utan genomes.

    Published in:
    Nature, 2011, v. 469, n. 7331, p. 529, doi. 10.1038/nature09687
    By:
    • Locke, Devin P.;
    • Hillier, LaDeana W.;
    • Warren, Wesley C.;
    • Worley, Kim C.;
    • Nazareth, Lynne V.;
    • Muzny, Donna M.;
    • Shiaw-Pyng Yang;
    • Zhengyuan Wang;
    • Chinwalla, Asif T.;
    • Minx, Pat;
    • Mitreva, Makedonka;
    • Cook, Lisa;
    • Delehaunty, Kim D.;
    • Fronick, Catrina;
    • Schmidt, Heather;
    • Fulton, Lucinda A.;
    • Fulton, Robert S.;
    • Nelson, Joanne O.;
    • Magrini, Vincent;
    • Pohl, Craig
    Publication type:
    Article
    15

    Complete Khoisan and Bantu genomes from southern Africa.

    Published in:
    Nature, 2010, v. 463, n. 7283, p. 943, doi. 10.1038/nature08795
    By:
    • Schuster, Stephan C.;
    • Miller, Webb;
    • Ratan, Aakrosh;
    • Tomsho, Lynn P.;
    • Giardine, Belinda;
    • Kasson, Lindsay R.;
    • Harris, Robert S.;
    • Petersen, Desiree C.;
    • Fangqing Zhao;
    • Ji Qi;
    • Alkan, Can;
    • Kidd, Jeffrey M.;
    • Yazhou Sun;
    • Drautz, Daniela I.;
    • Bouffard, Pascal;
    • Muzny, Donna M.;
    • Reid, Jeffrey G.;
    • Nazareth, Lynne V.;
    • Qingyu Wang;
    • Burhans, Richard
    Publication type:
    Article
    16

    A burst of segmental duplications in the genome of the African great ape ancestor.

    Published in:
    2009
    By:
    • Marques-Bonet, Tomas;
    • Kidd, Jeffrey M.;
    • Ventura, Mario;
    • Graves, Tina A.;
    • Cheng, Ze;
    • Hillier, LaDeana W.;
    • Jiang, Zhaoshi;
    • Baker, Carl;
    • Malfavon-Borja, Ray;
    • Fulton, Lucinda A.;
    • Nazareth, Lynne V.;
    • Muzny, Donna M.;
    • Alkan, Can;
    • Aksay, Gozde;
    • Girirajan, Santhosh;
    • Siswara, Priscillia;
    • Chen, Lin;
    • Cardone, Maria Francesca;
    • Navarro, Arcadi;
    • Gibbs, Richard A.
    Publication type:
    Correction Notice
    17

    Somatic mutations affect key pathways in lung adenocarcinoma.

    Published in:
    Nature, 2008, v. 455, n. 7216, p. 1069, doi. 10.1038/nature07423
    By:
    • Li Ding;
    • Getz, Gad;
    • Wheeler, David A.;
    • Mardis, Elaine R.;
    • McLellan, Michael D.;
    • Cibulskis, Kristian;
    • Sougnez, Carrie;
    • Greulich, Heidi;
    • Muzny, Donna M.;
    • Morgan, Margaret B.;
    • Fulton, Lucinda;
    • Fulton, Robert S.;
    • Qunyuan Zhang;
    • Wendl, Michael C.;
    • Lawrence, Michael S.;
    • Larson, David E.;
    • Chen, Ken;
    • Dooling, David J.;
    • Sabo, Aniko;
    • Hawes, Alicia C.
    Publication type:
    Article
    18

    Whole-Genome Sequencing for Optimized Patient Management.

    Published in:
    Science Translational Medicine, 2011, v. 3, n. 87, p. 1, doi. 10.1126/scitranslmed.3002243
    By:
    • Bainbridge, Matthew N.;
    • Wiszniewski, Wojciech;
    • Murdock, David R.;
    • Friedman, Jennifer;
    • Gonzaga-Jauregui, Claudia;
    • Newsham, Irene;
    • Reid, Jeffrey G.;
    • Fink, John K.;
    • Morgan, Margaret B.;
    • Gingras, Marie-Claude;
    • Muzny, Donna M.;
    • Hoang, Linh D.;
    • Yousaf, Shahed;
    • Lupski, James R.;
    • Gibbs, Richard A.
    Publication type:
    Article
    19

    Clinical and molecular features of pediatric cancer patients with Lynch syndrome.

    Published in:
    Pediatric Blood & Cancer, 2022, v. 69, n. 11, p. 1, doi. 10.1002/pbc.29859
    By:
    • Scollon, Sarah;
    • Eldomery, Mohammad K.;
    • Reuther, Jacquelyn;
    • Lin, Frank Y.;
    • Potter, Samara L.;
    • Desrosiers, Lauren;
    • McClain, Kenneth L.;
    • Smith, Valeria;
    • Su, Jack Meng‐Fen;
    • Venkatramani, Rajkumar;
    • Hu, Jianhong;
    • Korchina, Viktoriya;
    • Zarrin‐Khameh, Neda;
    • Gibbs, Richard A.;
    • Muzny, Donna M.;
    • Eng, Christine;
    • Roy, Angshumoy;
    • Parsons, D. Williams;
    • Plon, Sharon E.
    Publication type:
    Article
    20

    Complete genome sequence of Enterococcus faecium strain TX16 and comparative genomic analysis of Enterococcus faecium genomes.

    Published in:
    BMC Microbiology, 2012, v. 12, n. 1, p. 135, doi. 10.1186/1471-2180-12-135
    By:
    • Xiang Qin;
    • Galloway-Pe�a, Jessica R.;
    • Sillanpaa, Jouko;
    • Hyeob Roh, Jung;
    • Nallapareddy, Sreedhar R.;
    • Chowdhury, Shahreen;
    • Bourgogne, Agathe;
    • Choudhury, Tina;
    • Muzny, Donna M.;
    • Buhay, Christian J.;
    • Yan Ding;
    • Dugan-Rocha, Shannon;
    • Wen Liu;
    • Kovar, Christie;
    • Sodergren, Erica;
    • Highlander, Sarah;
    • Petrosino, Joseph F.;
    • Worley, Kim C.;
    • Gibbs, Richard A.;
    • Weinstock, George M.
    Publication type:
    Article
    21

    Subtle genetic changes enhance virulence of methicillin resistantand sensitive Staphylococcus aureus.

    Published in:
    BMC Microbiology, 2007, v. 7, p. 99, doi. 10.1186/1471-2180-7-99
    By:
    • Highlander, Sarah K.;
    • Hultén, Kristina G.;
    • Xiang Qin;
    • Huaiyang Jiang;
    • Yerrapragada, Shailaja;
    • Mason Jr., Edward O.;
    • Yue Shang;
    • Williams, Tiffany M.;
    • Fortunov, Régine M.;
    • Yamei Liu;
    • Igboeli, Okezie;
    • Petrosino, Joseph;
    • Tirumalai, Madhan;
    • Uzman, Akif;
    • Fox, George E.;
    • Cardenas, Ana Maria;
    • Muzny, Donna M.;
    • Hemphill, Lisa;
    • Yan Ding;
    • Dugan, Shannon
    Publication type:
    Article
    22

    The genome of the water strider Gerris buenoi reveals expansions of gene repertoires associated with adaptations to life on the water.

    Published in:
    BMC Genomics, 2018, v. 19, n. 1, p. 1, doi. 10.1186/s12864-018-5163-2
    By:
    • Armisén, David;
    • Rajakumar, Rajendhran;
    • Friedrich, Markus;
    • Benoit, Joshua B.;
    • Robertson, Hugh M.;
    • Panfilio, Kristen A.;
    • Ahn, Seung-Joon;
    • Poelchau, Monica F.;
    • Chao, Hsu;
    • Dinh, Huyen;
    • Doddapaneni, Harsha Vardhan;
    • Dugan, Shannon;
    • Gibbs, Richard A.;
    • Hughes, Daniel S. T.;
    • Han, Yi;
    • Lee, Sandra L.;
    • Murali, Shwetha C.;
    • Muzny, Donna M.;
    • Qu, Jiaxin;
    • Worley, Kim C.
    Publication type:
    Article
    23

    Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda.

    Published in:
    Molecular Biology & Evolution, 2017, v. 34, n. 8, p. 1838, doi. 10.1093/molbev/msx147
    By:
    • Seong-il Eyun;
    • Ho Young Soh;
    • Posavi, Marijan;
    • Munro, James B.;
    • Hughes, Daniel S.T.;
    • Murali, Shwetha C.;
    • Jiaxin Qu;
    • Shannon Dugan;
    • Lee, Sandra L.;
    • Hsu Chao;
    • Huyen Dinh;
    • Yi Han;
    • Doddapaneni, HarshaVardhan;
    • Worley, Kim C.;
    • Muzny, Donna M.;
    • Eun-Ok Park;
    • Silva, Joana C.;
    • Gibbs, Richard A.;
    • Richards, Stephen;
    • Lee, Carol Eunmi
    Publication type:
    Article
    24

    Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

    Published in:
    Human Genetics, 2018, v. 137, n. 9, p. 689, doi. 10.1007/s00439-018-1907-y
    By:
    • Du, Renqian;
    • Dinckan, Nuriye;
    • Song, Xiaofei;
    • Coban-Akdemir, Zeynep;
    • Jhangiani, Shalini N.;
    • Guven, Yeliz;
    • Aktoren, Oya;
    • Kayserili, Hulya;
    • Petty, Lauren E.;
    • Muzny, Donna M.;
    • Below, Jennifer E.;
    • Boerwinkle, Eric;
    • Wu, Nan;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Lupski, James R.;
    • Letra, Ariadne;
    • Uyguner, Z. Oya
    Publication type:
    Article
    25
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    Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

    Published in:
    Nature Medicine, 2012, v. 18, n. 9, p. 1423, doi. 10.1038/nm.2860
    By:
    • McIntyre, Jeremy C;
    • Davis, Erica E;
    • Joiner, Ariell;
    • Williams, Corey L;
    • Tsai, I-Chun;
    • Jenkins, Paul M;
    • McEwen, Dyke P;
    • Zhang, Lian;
    • Escobado, John;
    • Thomas, Sophie;
    • Szymanska, Katarzyna;
    • Johnson, Colin A;
    • Beales, Philip L;
    • Green, Eric D;
    • Mullikin, James C;
    • Program, NISC Comparative Sequencing;
    • Sabo, Aniko;
    • Muzny, Donna M;
    • Gibbs, Richard A;
    • Attié-Bitach, Tania
    Publication type:
    Article
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    Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

    Published in:
    Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
    By:
    • Carvalho, Claudia M. B.;
    • Coban-Akdemir, Zeynep;
    • Hijazi, Hadia;
    • Yuan, Bo;
    • Pendleton, Matthew;
    • Harrington, Eoghan;
    • Beaulaurier, John;
    • Juul, Sissel;
    • Turner, Daniel J.;
    • Kanchi, Rupa S.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Stankiewicz, Pawel;
    • Belmont, John W.;
    • Shaw, Chad A.;
    • Cheung, Sau Wai;
    • Hanchard, Neil A.;
    • Sutton, V. Reid;
    • Bader, Patricia I.
    Publication type:
    Article
    34

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

    Published in:
    Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
    By:
    • Normand, Elizabeth A.;
    • Braxton, Alicia;
    • Nassef, Salma;
    • Ward, Patricia A.;
    • Vetrini, Francesco;
    • He, Weimin;
    • Patel, Vipulkumar;
    • Qu, Chunjing;
    • Westerfield, Lauren E.;
    • Stover, Samantha;
    • Dharmadhikari, Avinash V.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Dai, Hongzheng;
    • Meng, Linyan;
    • Wang, Xia;
    • Xiao, Rui;
    • Liu, Pengfei;
    • Bi, Weimin;
    • Xia, Fan
    Publication type:
    Article
    35

    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

    Published in:
    Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0360-6
    By:
    • Eldomery, Mohammad K.;
    • Akdemir, Zeynep C.;
    • Vögtle, F.-Nora;
    • Wu-Lin Charng;
    • Mulica, Patrycja;
    • Rosenfeld, Jill A.;
    • Gambin, Tomasz;
    • Shen Gu;
    • Burrage, Lindsay C.;
    • Al Shamsi, Aisha;
    • Penney, Samantha;
    • Jhangiani, Shalini N.;
    • Zimmerman, Holly H.;
    • Muzny, Donna M.;
    • Xia Wang;
    • Jia Tang;
    • Medikonda, Ravi;
    • Ramachandran, Prasanna V.;
    • Lee-Jun Wong;
    • Boerwinkle, Eric
    Publication type:
    Article
    36

    Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

    Published in:
    Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
    By:
    • Loviglio, Maria Nicla;
    • Beck, Christine R.;
    • White, Janson J.;
    • Leleu, Marion;
    • Harel, Tamar;
    • Guex, Nicolas;
    • Niknejad, Anne;
    • Bi, Weimin;
    • Chen, Edward S.;
    • Crespo, Isaac;
    • Jiong Yan;
    • Wu-Lin Charng;
    • Shen Gu;
    • Ping Fang;
    • Coban-Akdemir, Zeynep;
    • Shaw, Chad A.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Rougemont, Jacques
    Publication type:
    Article
    37

    Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk.

    Published in:
    BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-02024-0
    By:
    • Behera, Sairam;
    • Belyeu, Jonathan R.;
    • Chen, Xiao;
    • Paulin, Luis F.;
    • Nguyen, Ngoc Quynh H.;
    • Newman, Emma;
    • Mahmoud, Medhat;
    • Menon, Vipin K.;
    • Qi, Qibin;
    • Joshi, Parag;
    • Marcovina, Santica;
    • Rossi, Massimiliano;
    • Roller, Eric;
    • Han, James;
    • Onuchic, Vitor;
    • Avery, Christy L.;
    • Ballantyne, Christie M.;
    • Rodriguez, Carlos J.;
    • Kaplan, Robert C.;
    • Muzny, Donna M.
    Publication type:
    Article
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    Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.

    Published in:
    Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
    By:
    • Posey, Jennifer E.;
    • Rosenfeld, Jill A.;
    • Jiang, Yunyun;
    • Darilek, Sandra A.;
    • Hansen, Adam W.;
    • Khayat, Michael M.;
    • Hanchard, Neil;
    • Belmont, John W.;
    • Eldomery, Mohammad K.;
    • Akdemir, Zeynep C.;
    • Chen, Shan;
    • Lee, Yi‐Chien;
    • Lee, Brendan;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Moretti, Paolo;
    • Wang, Xia;
    • Leduc, Magalie S.;
    • Walkiewicz, Magdalena A.;
    • Bi, Weimin
    Publication type:
    Article
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    Whole Genome Sequences of Three Treponema pallidum ssp. pertenue Strains: Yaws and Syphilis Treponemes Differ in Less than 0.2% of the Genome Sequence.

    Published in:
    PLoS Neglected Tropical Diseases, 2012, v. 6, n. 1, p. 1, doi. 10.1371/journal.pntd.0001471
    By:
    • Čejková, Darina;
    • Zobaníková, Marie;
    • Chen, Lei;
    • Pospíšilová, Petra;
    • Strouhal, Michal;
    • Qin, Xiang;
    • Mikalová, Lenka;
    • Norris, Steven J.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Fulton, Lucinda L.;
    • Sodergren, Erica;
    • Weinstock, George M.;
    • Šmajs, David
    Publication type:
    Article
    44

    Whole Genome Sequences of Three Treponema pallidum ssp. pertenue Strains: Yaws and Syphilis Treponemes Differ in Less than 0.2% of the Genome Sequence.

    Published in:
    PLoS Neglected Tropical Diseases, 2012, v. 6, n. 1, p. 1, doi. 10.1371/journal.pntd.0001471
    By:
    • Čejková, Darina;
    • Zobaníková, Marie;
    • Lei Chen;
    • Pospíšilová, Petra;
    • Strouhal, Michal;
    • Xiang Qin;
    • Mikalová, Lenka;
    • Norris, Steven J.;
    • Muzny, Donna M.;
    • Gibbs, Richard A.;
    • Fulton, Lucinda L.;
    • Sodergren, Erica;
    • Weinstock, George M.;
    • Šmajs, David
    Publication type:
    Article
    45

    High incidence of IDH mutations in acute myeloid leukaemia with cuplike nuclei.

    Published in:
    British Journal of Haematology, 2011, v. 155, n. 1, p. 125, doi. 10.1111/j.1365-2141.2011.08646.x
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    46

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