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There are 3901 results for: content related to: T owards a U niversal C linical G enomics D atabase: The 2012 I nternational S tandards for C ytogenomic A rrays C onsortium M eeting

  1. You have free access to this content
    Copper binding in IscA inhibits iron-sulphur cluster assembly in Escherichia coli

    Molecular Microbiology

    Volume 93, Issue 4, August 2014, Pages: 629–644, Guoqiang Tan, Zishuo Cheng, Yilin Pang, Aaron P. Landry, Jianghui Li, Jianxin Lu and Huangen Ding

    Version of Record online : 8 JUL 2014, DOI: 10.1111/mmi.12676

  2. Characterizing genetic variants for clinical action

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 166, Issue 1, March 2014, Pages: 93–104, Erin M. Ramos, Corina Din-Lovinescu, Jonathan S. Berg, Lisa D. Brooks, Audrey Duncanson, Michael Dunn, Peter Good, Tim J.P. Hubbard, Gail P. Jarvik, Christopher O'Donnell, Stephen T. Sherry, Naomi Aronson, Leslie G. Biesecker, Bruce Blumberg, Ned Calonge, Helen M. Colhoun, Robert S. Epstein, Paul Flicek, Erynn S. Gordon, Eric D. Green, Robert C. Green, Matthew Hurles, Kensaku Kawamoto, William Knaus, David H. Ledbetter, Howard P. Levy, Elaine Lyon, Donna Maglott, Howard L. McLeod, Nazneen Rahman, Gurvaneet Randhawa, Catherine Wicklund, Teri A. Manolio, Rex L. Chisholm and Marc S. Williams

    Version of Record online : 13 MAR 2014, DOI: 10.1002/ajmg.c.31386

  3. You have free access to this content
    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 787–796, Erin Rooney Riggs, Laird Jackson, David T. Miller and Steven Van Vooren

    Version of Record online : 20 MAR 2012, DOI: 10.1002/humu.22052

  4. You have free access to this content
    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 974–978, Brianne E. Kirkpatrick, Erin Rooney Riggs, Danielle R. Azzariti, Vanessa Rangel Miller, David H. Ledbetter, David T. Miller, Heidi Rehm, Christa Lese Martin, W. Andrew Faucett and On Behalf of the ClinGen Resource

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22838

  5. Using ClinVar as a Resource to Support Variant Interpretation


    Current Protocols in Human Genetics


    Steven M. Harrison, Erin R. Riggs, Donna R. Maglott, Jennifer M. Lee, Danielle R. Azzariti, Annie Niehaus, Erin M. Ramos, Christa L. Martin, Melissa J. Landrum and Heidi L. Rehm

    Published Online : 1 APR 2016, DOI: 10.1002/0471142905.hg0816s89

  6. You have free access to this content
    Identification of a novel prokaryotic HEAT-repeats-containing protein which interacts with a cyanobacterial IscA homolog

    FEBS Letters

    Volume 519, Issue 1-3, May 22, 2002, Pages: 123–127, Kozo Morimoto, Kazuaki Nishio and Masato Nakai

    Version of Record online : 25 APR 2002, DOI: 10.1016/S0014-5793(02)02736-9

  7. Chromosomal microarray impacts clinical management

    Clinical Genetics

    Volume 85, Issue 2, February 2014, Pages: 147–153, E.R. Riggs, K.E. Wain, D. Riethmaier, B. Smith-Packard, W.A. Faucett, N. Hoppman, E.C. Thorland, V.C. Patel and D.T. Miller

    Version of Record online : 21 FEB 2013, DOI: 10.1111/cge.12107

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    In vivo [Fe-S] cluster acquisition by IscR and NsrR, two stress regulators in Escherichia coli

    Molecular Microbiology

    Volume 87, Issue 3, February 2013, Pages: 493–508, Daniel Vinella, Laurent Loiseau, Sandrine Ollagnier de Choudens, Marc Fontecave and Frédéric Barras

    Version of Record online : 16 JAN 2013, DOI: 10.1111/mmi.12135

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    Clinically Relevant Variants – Identifying, Collecting, Interpreting, and Disseminating: The 2013 Annual Scientific Meeting of the Human Genome Variation Society

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 505–510, Christine M. Stanley, Shamil R. Sunyaev, Marc S. Greenblatt and William S. Oetting

    Version of Record online : 17 MAR 2014, DOI: 10.1002/humu.22516

  10. You have free access to this content
    A dimer of the FeS cluster biosynthesis protein IscA from cyanobacteria binds a [2Fe2S] cluster between two protomers and transfers it to [2Fe2S] and [4Fe4S] apo proteins

    European Journal of Biochemistry

    Volume 270, Issue 8, April 2003, Pages: 1662–1671, Markus Wollenberg, Carsten Berndt, Eckhard Bill, Jens D. Schwenn and Andreas Seidler

    Version of Record online : 26 MAR 2003, DOI: 10.1046/j.1432-1033.2003.03522.x

  11. You have free access to this content
    Crystal structure of Escherichia coli SufA involved in biosynthesis of iron–sulfur clusters: Implications for a functional dimer

    FEBS Letters

    Volume 579, Issue 29, December 05, 2005, Pages: 6543–6548, Kei Wada, Yuko Hasegawa, Zhao Gong, Yoshiko Minami, Keiichi Fukuyama and Yasuhiro Takahashi

    Version of Record online : 11 NOV 2005, DOI: 10.1016/j.febslet.2005.10.046

  12. You have free access to this content
    Human Variome Project Quality Assessment Criteria for Variation Databases

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 549–558, Mauno Vihinen, John M. Hancock, Donna R. Maglott, Melissa J. Landrum, Gerard C. P. Schaafsma and Peter Taschner

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22976

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    Diagnostic interpretation of array data using public databases and internet sources

    Human Mutation

    Volume 33, Issue 6, June 2012, Pages: 930–940, Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y. Hehir-Kwa, Nigel P. Carter, Lars Feuk, Helen V. Firth, Robert M. Kuhn, David H. Ledbetter, Christa Lese Martin, Conny M. A. van Ravenswaaij-Arts, Steven W. Scherer, Soheil Shams, Steven Van Vooren, Rolf Sijmons, Morris Swertz and Ros Hastings

    Version of Record online : 7 MAY 2012, DOI: 10.1002/humu.22049

  14. Novel features of the ISC machinery revealed by characterization of Escherichia coli mutants that survive without iron–sulfur clusters

    Molecular Microbiology

    Volume 99, Issue 5, March 2016, Pages: 835–848, Naoyuki Tanaka, Miaki Kanazawa, Keitaro Tonosaki, Nao Yokoyama, Tomohisa Kuzuyama and Yasuhiro Takahashi

    Version of Record online : 1 DEC 2015, DOI: 10.1111/mmi.13271

  15. You have free access to this content
    Molecular organization, biochemical function, cellular role and evolution of NfuA, an atypical Fe-S carrier

    Molecular Microbiology

    Volume 86, Issue 1, October 2012, Pages: 155–171, Béatrice Py, Catherine Gerez, Sandra Angelini, Rémy Planel, Daniel Vinella, Laurent Loiseau, Emmanuel Talla, Céline Brochier-Armanet, Ricardo Garcia Serres, Jean-Marc Latour, Sandrine Ollagnier-de Choudens, Marc Fontecave and Frédéric Barras

    Version of Record online : 12 SEP 2012, DOI: 10.1111/j.1365-2958.2012.08181.x

  16. You have free access to this content
    The SUF iron–sulfur cluster biosynthetic machinery: Sulfur transfer from the SUFS–SUFE complex to SUFA

    FEBS Letters

    Volume 581, Issue 7, April 03, 2007, Pages: 1362–1368, Maïté Sendra, Sandrine Ollagnier de Choudens, David Lascoux, Yiannis Sanakis and Marc Fontecave

    Version of Record online : 5 MAR 2007, DOI: 10.1016/j.febslet.2007.02.058

  17. Iron–Sulfur Cluster Biogenesis in Archaea and Bacteria

    Standard Article

    Encyclopedia of Inorganic and Bioinorganic Chemistry

    Harsimranjit K. Chahal, Jeff M. Boyd and F. Wayne Outten

    Published Online : 5 DEC 2013, DOI: 10.1002/9781119951438.eibc2149

  18. You have full text access to this OnlineOpen article
    Disease variants in genomes of 44 centenarians

    Molecular Genetics & Genomic Medicine

    Volume 2, Issue 5, September 2014, Pages: 438–450, Yun Freudenberg-Hua, Jan Freudenberg, Vladimir Vacic, Avinash Abhyankar, Anne-Katrin Emde, Danny Ben-Avraham, Nir Barzilai, Dayna Oschwald, Erika Christen, Jeremy Koppel, Blaine Greenwald, Robert B. Darnell, Soren Germer, Gil Atzmon and Peter Davies

    Version of Record online : 15 JUN 2014, DOI: 10.1002/mgg3.86

  19. Towards an evidence-based process for the clinical interpretation of copy number variation

    Clinical Genetics

    Volume 81, Issue 5, May 2012, Pages: 403–412, ER Riggs, DM Church, K Hanson, VL Horner, EB Kaminsky, RM Kuhn, KE Wain, ES Williams, S Aradhya, HM Kearney, DH Ledbetter, ST South, EC Thorland and CL Martin

    Version of Record online : 13 DEC 2011, DOI: 10.1111/j.1399-0004.2011.01818.x

  20. You have free access to this content
    Stage-specific requirement for Isa1 and Isa2 proteins in the mitochondrion of Trypanosoma brucei and heterologous rescue by human and Blastocystis orthologues

    Molecular Microbiology

    Volume 81, Issue 6, September 2011, Pages: 1403–1418, Shaojun Long, Piya Changmai, Anastasios D. Tsaousis, Tomáš Skalický, Zdeněk Verner, Yan-Zi Wen, Andrew J. Roger and Julius Lukeš

    Version of Record online : 15 AUG 2011, DOI: 10.1111/j.1365-2958.2011.07769.x