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There are 14482 results for: content related to: Back to the future: From genome to metabolome

  1. Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 537–547, In-Hee Lee, Kyungjoon Lee, Michael Hsing, Yongjoon Choe, Jin-Ho Park, Shu Hee Kim, Justin M. Bohn, Matthew B. Neu, Kyu-Baek Hwang, Robert C. Green, Isaac S. Kohane and Sek Won Kong

    Article first published online : 6 MAR 2014, DOI: 10.1002/humu.22520

  2. A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss

    Human Mutation

    Volume 35, Issue 5, May 2014, Pages: 618–624, Ayesha Imtiaz, David C. Kohrman and Sadaf Naz

    Article first published online : 7 APR 2014, DOI: 10.1002/humu.22545

  3. Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1102–1110, Thomas Parzefall, Shaked Shivatzki, Danielle R. Lenz, Birgit Rathkolb, Kathy Ushakov, Daphne Karfunkel, Yisgav Shapira, Michael Wolf, Manuela Mohr, Eckhard Wolf, Sibylle Sabrautzki, Martin Hrabé de Angelis, Moshe Frydman, Zippora Brownstein and Karen B. Avraham

    Article first published online : 8 MAY 2013, DOI: 10.1002/humu.22339

  4. Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease

    Human Mutation

    Volume 36, Issue 3, March 2015, Pages: 296–300, Lily Islam, Daniel Kelberman, Laura Williamson, Nicola Lewis, Maria Bitner Glindzicz, Ken K. Nischal and Jane C. Sowden

    Article first published online : 13 MAR 2015, DOI: 10.1002/humu.22741

  5. Evidence Against RAB40AL Being the Locus for Martin–Probst X-Linked Deafness–Intellectual Disability Syndrome

    Human Mutation

    Volume 35, Issue 10, October 2014, Pages: 1171–1174, Monika Ołdak, Aneta Ścieżyńska, Wojciech Młynarski, Maciej Borowiec, Ewelina Ruszkowska, Kamil Szulborski, Agnieszka Pollak, Joanna Kosińska, Małgorzata Mueller-Malesińska, Piotr Stawiński, Jacek P. Szaflik and Rafał Płoski

    Article first published online : 7 AUG 2014, DOI: 10.1002/humu.22620

  6. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1418–1426, Vilma-Lotta Lehtokari, Kirsi Kiiski, Sarah A. Sandaradura, Jocelyn Laporte, Pauliina Repo, Jennifer A. Frey, Kati Donner, Minttu Marttila, Carol Saunders, Peter G. Barth, Johan T. den Dunnen, Alan H. Beggs, Nigel F. Clarke, Kathryn N. North, Nigel G. Laing, Norma B. Romero, Thomas L. Winder, Katarina Pelin and Carina Wallgren-Pettersson

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22693

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    Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 497–504, Julia Falk, Magdalena Rohde, Mohamed M. Bekhite, Sophie Neugebauer, Peter Hemmerich, Michael Kiehntopf, Thomas Deufel, Christian A. Hübner and Christian Beetz

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22521

  8. Mutation Update for GNE Gene Variants Associated with GNE Myopathy

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 915–926, Frank V. Celeste, Thierry Vilboux, Carla Ciccone, John Karl de Dios, May Christine V. Malicdan, Petcharat Leoyklang, John C. McKew, William A. Gahl, Nuria Carrillo-Carrasco and Marjan Huizing

    Article first published online : 17 JUL 2014, DOI: 10.1002/humu.22583

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    Altered GPM6A/M6 Dosage Impairs Cognition and Causes Phenotypes Responsive to Cholesterol in Human and Drosophila

    Human Mutation

    Volume 35, Issue 12, December 2014, Pages: 1495–1505, Anne Gregor, Jamie M. Kramer, Monique van der Voet, Ina Schanze, Steffen Uebe, Rogier Donders, André Reis, Annette Schenck and Christiane Zweier

    Article first published online : 24 NOV 2014, DOI: 10.1002/humu.22697

  10. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 779–790, Minttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, Tuula A. Nyman, Christine Barnerias, Alan H. Beggs, Enrico Bertini, Özge Ceyhan-Birsoy, Pascal Cintas, Marion Gerard, Brigitte Gilbert-Dussardier, Jacob S. Hogue, Cheryl Longman, Bruno Eymard, Moshe Frydman, Peter B. Kang, Lars Klinge, Hanna Kolski, Hans Lochmüller, Laurent Magy, Véronique Manel, Michèle Mayer, Eugenio Mercuri, Kathryn N. North, Sylviane Peudenier-Robert, Helena Pihko, Frank J. Probst, Ricardo Reisin, Willie Stewart, Ana Lia Taratuto, Marianne de Visser, Ekkehard Wilichowski, John Winer, Kristen Nowak, Nigel G. Laing, Tom L. Winder, Nicole Monnier, Nigel F. Clarke, Katarina Pelin, Mikaela Grönholm and Carina Wallgren-Pettersson

    Article first published online : 1 MAY 2014, DOI: 10.1002/humu.22554

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    Genetic Variations and Diseases in UniProtKB/Swiss-Prot: The Ins and Outs of Expert Manual Curation

    Human Mutation

    Volume 35, Issue 8, August 2014, Pages: 927–935, Maria Livia Famiglietti, Anne Estreicher, Arnaud Gos, Jerven Bolleman, Sébastien Géhant, Lionel Breuza, Alan Bridge, Sylvain Poux, Nicole Redaschi, Lydie Bougueleret, Ioannis Xenarios and the UniProt Consortium

    Article first published online : 24 JUN 2014, DOI: 10.1002/humu.22594

  12. The ETFDH c.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 86–95, Rikke K. J. Olsen, Sabrina Brøner, Rugivan Sabaratnam, Thomas K. Doktor, Henriette S. Andersen, Gitte H. Bruun, Birthe Gahrn, Vibeke Stenbroen, Simon E. Olpin, Angus Dobbie, Niels Gregersen and Brage S. Andresen

    Article first published online : 28 OCT 2013, DOI: 10.1002/humu.22455

  13. NF1 Molecular Characterization and Neurofibromatosis Type I Genotype–Phenotype Correlation: The French Experience

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1510–1518, Audrey Sabbagh, Eric Pasmant, Apolline Imbard, Armelle Luscan, Magali Soares, Hélène Blanché, Ingrid Laurendeau, Salah Ferkal, Michel Vidaud, Stéphane Pinson, Christine Bellanné-Chantelot, Dominique Vidaud, the members of the NF France Network, Béatrice Parfait and Pierre Wolkenstein

    Article first published online : 26 AUG 2013, DOI: 10.1002/humu.22392

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    GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 842–846, Michael A. Gonzalez, Rafael F. Acosta Lebrigio, Derek Van Booven, Rick H. Ulloa, Eric Powell, Fiorella Speziani, Mustafa Tekin, Rebecca Schüle and Stephan Züchner

    Article first published online : 3 APR 2013, DOI: 10.1002/humu.22305

  15. Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 167–175, Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, Nathalie Lannoy, Frances Elmslie, Martina Bebin, Kira Dies, Catherine Thompson, Steven P. Sparagana, Peter Davies, Ans van den Ouweland, Dicky Halley and Mark Nellist

    Article first published online : 11 OCT 2012, DOI: 10.1002/humu.22202

    Corrected by:

    Errata: Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

    Vol. 34, Issue 2, 409–410, Article first published online: 7 JAN 2013

  16. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 237–247, Izak J. Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, Maja Wessels, Patrick Willems, Peter Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Dahlgaard Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt Robinson, Maja Linné, Patricia Martin, James McGrath, Winnie Pradel, Katrina E. Prescott, Bernd Roesler, Gorazd Rudolf, Ulrike Siebers-Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, Gerhard Wolff, William B. Dobyns and Deborah J. Morris-Rosendahl

    Article first published online : 17 OCT 2012, DOI: 10.1002/humu.22224

  17. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1357–1360, Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, for the NIH Intramural Sequencing Center, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques Jr, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck and Barrington G. Burnett

    Article first published online : 12 AUG 2013, DOI: 10.1002/humu.22378

  18. A Novel RAB33B Mutation in Smith–McCort Dysplasia

    Human Mutation

    Volume 34, Issue 2, February 2013, Pages: 283–286, Nina Dupuis, Sophie Lebon, Manoj Kumar, Séverine Drunat, Luitgard M. Graul-Neumann, Pierre Gressens and Vincent El Ghouzzi

    Article first published online : 8 NOV 2012, DOI: 10.1002/humu.22235

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    MAP4-Dependent Regulation of Microtubule Formation Affects Centrosome, Cilia, and Golgi Architecture as a Central Mechanism in Growth Regulation

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 87–97, Diana Zahnleiter, Nadine N. Hauer, Kristin Kessler, Steffen Uebe, Yuya Sugano, Stephan C.F. Neuhauss, Andreas Giessl, Arif B. Ekici, Holger Blessing, Heinrich Sticht, Helmuth-Günther Dörr, André Reis and Christian T. Thiel

    Article first published online : 28 NOV 2014, DOI: 10.1002/humu.22711

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    Mutations in COA6 cause Cytochrome c Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

    Human Mutation

    Volume 36, Issue 1, January 2015, Pages: 34–38, Fabian Baertling, Mariel A.M. van den Brand, Jozef L. Hertecant, Aisha Al-Shamsi, Lambert P. van den Heuvel, Felix Distelmaier, Ertan Mayatepek, Jan A. Smeitink, Leo G.J. Nijtmans and Richard J.T. Rodenburg

    Article first published online : 18 NOV 2014, DOI: 10.1002/humu.22715