Works by Gibbs, Richard A.


Results: 416
    1

    The genome of the model beetle and pest Tribolium castaneum.

    Published in:
    Nature, 2008, v. 452, n. 7190, p. 949, doi. 10.1038/nature06784
    By:
    • Richards, Stephen;
    • Gibbs, Richard A.;
    • Weinstock, George M.;
    • Brown, Susan J.;
    • Denell, Robin;
    • Beeman, Richard W.;
    • Gibbs, Richard;
    • Bucher, Gregor;
    • Friedrich, Markus;
    • Grimmelikhuijzen, Cornelis J. P.;
    • Klingler, Martin;
    • Lorenzen, Marce;
    • Roth, Siegfried;
    • Schröder, Reinhard;
    • Tautz, Diethard;
    • Zdobnov, Evgeny M.;
    • Muzny, Donna;
    • Attaway, Tony;
    • Bell, Stephanie;
    • Buhay, Christian J.
    Publication type:
    Article
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    Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.

    Published in:
    Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190
    By:
    • Khayat, Michael M.;
    • Li, He;
    • Chander, Varuna;
    • Hu, Jianhong;
    • Hansen, Adam W.;
    • Li, Shoudong;
    • Traynelis, Josh;
    • Shen, Hua;
    • Weissenberger, George;
    • Stossi, Fabio;
    • Johnson, Hannah L.;
    • Lupski, James R.;
    • Posey, Jennifer E.;
    • Sabo, Aniko;
    • Meng, Qingchang;
    • Murdock, David R.;
    • Wangler, Michael;
    • Gibbs, Richard A.
    Publication type:
    Article
    4

    Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

    Published in:
    Human Mutation, 2017, v. 38, n. 10, p. 1365, doi. 10.1002/humu.23282
    By:
    • Marom, Ronit;
    • Jain, Mahim;
    • Burrage, Lindsay C.;
    • Song, I‐Wen;
    • Graham, Brett H.;
    • Brown, Chester W.;
    • Stevens, Servi J.C.;
    • Stegmann, Alexander P.A.;
    • Gunter, Andrew T.;
    • Kaplan, Julie D.;
    • Gavrilova, Ralitza H.;
    • Shinawi, Marwan;
    • Rosenfeld, Jill A.;
    • Bae, Yangjin;
    • Tran, Alyssa A.;
    • Chen, Yuqing;
    • Lu, James T.;
    • Gibbs, Richard A.;
    • Eng, Christine;
    • Yang, Yaping
    Publication type:
    Article
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    The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery.

    Published in:
    Human Mutation, 2015, v. 36, n. 10, p. 915, doi. 10.1002/humu.22858
    By:
    • Philippakis, Anthony A.;
    • Azzariti, Danielle R.;
    • Beltran, Sergi;
    • Brookes, Anthony J.;
    • Brownstein, Catherine A.;
    • Brudno, Michael;
    • Brunner, Han G.;
    • Buske, Orion J.;
    • Carey, Knox;
    • Doll, Cassie;
    • Dumitriu, Sergiu;
    • Dyke, Stephanie O.M.;
    • den Dunnen, Johan T.;
    • Firth, Helen V.;
    • Gibbs, Richard A.;
    • Girdea, Marta;
    • Gonzalez, Michael;
    • Haendel, Melissa A.;
    • Hamosh, Ada;
    • Holm, Ingrid A.
    Publication type:
    Article
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    Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma: A Report From the Children's Oncology Group.

    Published in:
    JAMA Network Open, 2024, v. 7, n. 3, p. e244170, doi. 10.1001/jamanetworkopen.2024.4170
    By:
    • Martin-Giacalone, Bailey A.;
    • Li, He;
    • Scheurer, Michael E.;
    • Casey, Dana L.;
    • Dugan-Perez, Shannon;
    • Marquez-Do, Deborah A.;
    • Muzny, Donna;
    • Gibbs, Richard A.;
    • Barkauskas, Donald A.;
    • Hall, David;
    • Stewart, Douglas R.;
    • Schiffman, Joshua D.;
    • McEvoy, Matthew T.;
    • Khan, Javed;
    • Malkin, David;
    • Linardic, Corinne M.;
    • Crompton, Brian D.;
    • Shern, Jack F.;
    • Skapek, Stephen X.;
    • Venkatramani, Rajkumar
    Publication type:
    Article
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    Deep clinicopathological phenotyping identifies a previously unrecognized pathogenic EMD splice variant.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 10, p. 2052, doi. 10.1002/acn3.51454
    By:
    • Calame, Daniel G.;
    • Fatih, Jawid M.;
    • Herman, Isabella;
    • Coban‐Akdemir, Zeynep;
    • Du, Haowei;
    • Mitani, Tadahiro;
    • Jhangiani, Shalini N.;
    • Marafi, Dana;
    • Gibbs, Richard A.;
    • Posey, Jennifer E.;
    • Mehta, Vidya P.;
    • Mohila, Carrie A.;
    • Abid, Farida;
    • Lotze, Timothy E.;
    • Pehlivan, Davut;
    • Adesina, Adekunle M.;
    • Lupski, James R.
    Publication type:
    Article
    20

    Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1395, doi. 10.1002/acn3.50824
    By:
    • Punetha, Jaya;
    • Karaca, Ender;
    • Gezdirici, Alper;
    • Lamont, Ryan E.;
    • Pehlivan, Davut;
    • Marafi, Dana;
    • Appendino, Juan P.;
    • Hunter, Jill V.;
    • Akdemir, Zeynep C.;
    • Fatih, Jawid M.;
    • Jhangiani, Shalini N.;
    • Gibbs, Richard A.;
    • Innes, A. Micheil;
    • Posey, Jennifer E.;
    • Lupski, James R.
    Publication type:
    Article
    21

    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
    22

    Whole-Exome Sequencing in Familial Parkinson Disease.

    Published in:
    JAMA Neurology, 2016, v. 73, n. 1, p. 68, doi. 10.1001/jamaneurol.2015.3266
    By:
    • Farlow, Janice L.;
    • Robak, Laurie A.;
    • Hetrick, Kurt;
    • Bowling, Kevin;
    • Boerwinkle, Eric;
    • Coban-Akdemir, Zeynep H.;
    • Gambin, Tomasz;
    • Gibbs, Richard A.;
    • Shen Gu;
    • Jain, Preti;
    • Jankovic, Joseph;
    • Shalini Jhangiani;
    • Kaw, Kaveeta;
    • Dongbing Lai;
    • Hai Lin;
    • Hua Ling;
    • Yunlong Liu;
    • Lupski, James R.;
    • Muzny, Donna;
    • Porter, Paula
    Publication type:
    Article
    23

    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
    24

    Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.

    Published in:
    Pediatric Hematology & Oncology, 2023, v. 40, n. 8, p. 719, doi. 10.1080/08880018.2023.2228837
    By:
    • Mangum, Ross;
    • Reuther, Jacquelyn;
    • Sen Baksi, Koel;
    • Gandhi, Ilavarasi;
    • Zabriskie, Ryan C.;
    • Recinos, Alva;
    • Raesz-Martinez, Robin;
    • Lin, Frank Y.;
    • Potter, Samara L.;
    • Sher, Andrew C.;
    • Kralik, Stephen F.;
    • Mohila, Carrie A.;
    • Chintagumpala, Murali M.;
    • Muzny, Donna;
    • Hu, Jianhong;
    • Gibbs, Richard A.;
    • Fisher, Kevin E.;
    • Bernini, Juan Carlos;
    • Gill, Jonathan;
    • Griffin, Timothy C.
    Publication type:
    Article
    25

    IDENTIFICATION OF PROGNOSIS MARKERS IN PEDIATRIC HIGH-RISK ACUTE LYMPHOBLASTIC LEUKEMIA.

    Published in:
    Pediatric Hematology & Oncology, 2005, v. 22, n. 7, p. 629, doi. 10.1080/08880010500199069
    By:
    • Al-Lamki, Zakia;
    • Wali, Yasser A.;
    • Wasifuddin, Shah M.;
    • Zachariah, Mathew;
    • Al-Mjeni, Rayhanah;
    • Li, Changping;
    • Muralitharan, Shanmugakonar;
    • Al-Kharusi, Khalsa;
    • Gunaratne, Preethi;
    • Peterson, Leif;
    • Gibbs, Richard;
    • Gingras, Marie-Claude;
    • Margolin, Judith F.
    Publication type:
    Article
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    Society for Vascular Medicine and Biology abstracts.

    Published in:
    Vascular Medicine, 2003, v. 8, n. 2, p. 135, doi. 10.1191/1358863x03vm480xx
    By:
    • Collins, Tracie C.;
    • Kullo, Ifitikhar J.;
    • Andrade, Mariza de;
    • Kardia, Sharon L.;
    • mosely, Thomas;
    • Boerwinkle, Eric;
    • Turner, Stephen;
    • Soumain, Soni;
    • Gibbs, Richard G.;
    • Higgins, Christopher F.;
    • Davies, Alun H.;
    • Chan, Caroline;
    • Albrecht, Christiane;
    • Dai, Qunsheng;
    • Jianhua Huanga;
    • Klitzman, Bruce;
    • Rokovich, Joe;
    • Rebar, Ed;
    • Johnstone, Brian;
    • Kontos, Christopher
    Publication type:
    Article
    28

    Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

    Published in:
    BMC Medical Genomics, 2016, v. 9, p. 1, doi. 10.1186/s12920-016-0208-3
    By:
    • Wu-Lin Charng;
    • Karaca, Ender;
    • Coban Akdemir, Zeynep;
    • Gambin, Tomasz;
    • Atik, Mehmed M.;
    • Shen Gu;
    • Posey, Jennifer E.;
    • Jhangiani, Shalini N.;
    • Muzny, Donna M.;
    • Doddapaneni, Harsha;
    • Jianhong Hu;
    • Boerwinkle, Eric;
    • Gibbs, Richard A.;
    • Rosenfeld, Jill A.;
    • Hong Cui;
    • Fan Xia;
    • Manickam, Kandamurugu;
    • Yaping Yang;
    • Faqeih, Eissa A.;
    • Al Asmari, Ali
    Publication type:
    Article
    29

    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
    30

    COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 654, doi. 10.1038/ng.3279
    By:
    • Watkin, Levi B;
    • Forbes, Lisa R;
    • Mace, Emily M;
    • Liu, Dongfang;
    • Nicholas, Sarah K;
    • Nahmod, Karen;
    • Makedonas, George;
    • Canter, Debra L;
    • Orange, Jordan S;
    • Hicks, John;
    • Jones, Kirk D;
    • Jhangiani, Shalini N;
    • Muzny, Donna M;
    • Rosenblum, Michael D;
    • Dell, Sharon D;
    • Waterfield, Michael R;
    • Boerwinkle, Eric;
    • Gibbs, Richard A;
    • Lupski, James R;
    • Shum, Anthony K
    Publication type:
    Article
    31
    32

    Convergent evolution of the genomes of marine mammals.

    Published in:
    Nature Genetics, 2015, v. 47, n. 3, p. 272, doi. 10.1038/ng.3198
    By:
    • Foote, Andrew D;
    • Nielsen, Rasmus;
    • Raney, Brian J;
    • Vijay, Nagarjun;
    • Wolf, Jochen B W;
    • Hahn, Matthew W;
    • Gilbert, M Thomas P;
    • Liu, Yue;
    • Deng, Jixin;
    • Dugan, Shannon;
    • Joshi, Vandita;
    • Khan, Ziad;
    • Kovar, Christie;
    • Lee, Sandra L;
    • Qin, Xiang;
    • Qu, Jiaxin;
    • Muzny, Donna M;
    • Worley, Kim C;
    • Gibbs, Richard A;
    • Thomas, Gregg W C
    Publication type:
    Article
    33

    A framework for the interpretation of de novo mutation in human disease.

    Published in:
    Nature Genetics, 2014, v. 46, n. 9, p. 944, doi. 10.1038/ng.3050
    By:
    • Samocha, Kaitlin E;
    • Robinson, Elise B;
    • Sanders, Stephan J;
    • Stevens, Christine;
    • Sabo, Aniko;
    • McGrath, Lauren M;
    • Kosmicki, Jack A;
    • Rehnström, Karola;
    • Mallick, Swapan;
    • Kirby, Andrew;
    • Wall, Dennis P;
    • MacArthur, Daniel G;
    • Gabriel, Stacey B;
    • DePristo, Mark;
    • Purcell, Shaun M;
    • Palotie, Aarno;
    • Boerwinkle, Eric;
    • Buxbaum, Joseph D;
    • Cook, Edwin H;
    • Gibbs, Richard A
    Publication type:
    Article
    34

    Whole-genome sequence-based analysis of high-density lipoprotein cholesterol.

    Published in:
    Nature Genetics, 2013, v. 45, n. 8, p. 899, doi. 10.1038/ng.2671
    By:
    • Morrison, Alanna C;
    • Voorman, Arend;
    • Johnson, Andrew D;
    • Liu, Xiaoming;
    • Yu, Jin;
    • Li, Alexander;
    • Muzny, Donna;
    • Yu, Fuli;
    • Rice, Kenneth;
    • Zhu, Chengsong;
    • Bis, Joshua;
    • Heiss, Gerardo;
    • O'Donnell, Christopher J;
    • Psaty, Bruce M;
    • Cupples, L Adrienne;
    • Gibbs, Richard;
    • Boerwinkle, Eric
    Publication type:
    Article
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    36

    X-cess of variants in XLMR.

    Published in:
    Nature Genetics, 2009, v. 41, n. 5, p. 510, doi. 10.1038/ng0509-510
    By:
    • Nelson, David L.;
    • Gibbs, Richard A.
    Publication type:
    Article
    37

    What everybody should know about the rat genome and its online resources.

    Published in:
    Nature Genetics, 2008, v. 40, n. 5, p. 523, doi. 10.1038/ng0508-523
    By:
    • Twigger, Simon N.;
    • Pruitt, Kim D.;
    • Fernández-Suárez, Xosé M.;
    • Karolchik, Donna;
    • Worley, Kim C.;
    • Maglott, Donna R.;
    • Brown, Garth;
    • Weinstock, George;
    • Gibbs, Richard A.;
    • Kent, Jim;
    • Birney, Ewan;
    • Jacob, Howard J.
    Publication type:
    Article
    38

    Recommendations of the 2006 Human Variome Project meeting.

    Published in:
    Nature Genetics, 2007, v. 39, n. 4, p. 433, doi. 10.1038/ng2024
    By:
    • Appelbe, William;
    • Auerbach, Arleen D.;
    • Becker, Kevin;
    • Bodmer, Walter;
    • Boone, D. Joe;
    • Boulyjenkov, Victor;
    • Brahmachari, Samir;
    • Brody, Lawrence;
    • Brookes, Anthony;
    • Brown, Alastair F.;
    • Byers, Peter;
    • Maria Cantu, Jose;
    • Cassiman, Jean-Jacques;
    • Claustres, Mireille;
    • Concannon, Patrick;
    • Cotton, Richard G. H.;
    • den Dunnen, Johan T.;
    • Flicek, Paul;
    • Gibbs, Richard;
    • Hall, Judith
    Publication type:
    Article
    39

    Genomic segmental polymorphisms in inbred mouse strains.

    Published in:
    Nature Genetics, 2004, v. 36, n. 9, p. 952, doi. 10.1038/ng1417
    By:
    • Li, Jiangzhen;
    • Jiang, Tao;
    • Mao, Jian-Hua;
    • Balmain, Allan;
    • Peterson, Leif;
    • Harris, Charles;
    • Rao, Pulivarthi H.;
    • Havlak, Paul;
    • Gibbs, Richard;
    • Wei-Wen Cai
    Publication type:
    Article
    40
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    The weed paves the way.

    Published in:
    Nature Genetics, 1999, v. 22, n. 3, p. 219, doi. 10.1038/10274
    By:
    • Gibbs, Richard A
    Publication type:
    Article
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    Bos taurus genome assembly.

    Published in:
    BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-180
    By:
    • Yue Liu;
    • Xiang Qin;
    • Song, Xing-Zhi Henry;
    • Huaiyang Jiang;
    • Yufeng Shen;
    • Durbin, K. James;
    • Lien, Sigbjørn;
    • Kent, Matthew Peter;
    • Sodeland, Marte;
    • Yanru Ren;
    • Lan Zhang;
    • Sodergren, Erica;
    • Havlak, Paul;
    • Worley, Kim C.;
    • Weinstock, George M.;
    • Gibbs, Richard A.
    Publication type:
    Article
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    Problems.

    Published in:
    School Science & Mathematics, 1994, v. 94, n. 4, p. 218, doi. 10.1111/j.1949-8594.1994.tb15659.x
    By:
    • Gibbs, Richard A.;
    • Szucs, Laszlo
    Publication type:
    Article
    50

    Problems.

    Published in:
    School Science & Mathematics, 1994, v. 94, n. 3, p. 165, doi. 10.1111/j.1949-8594.1994.tb15648.x
    By:
    • Gibbs, Richard A.;
    • Szucs, Laszlo
    Publication type:
    Article