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There are 8287079 results for: content related to: Best Practices for Evaluating Mutation Prediction Methods

  1. TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

    Human Mutation

    Volume 34, Issue 6, June 2013, Pages: 812–826, Serena Lattante, Guy A. Rouleau and Edor Kabashi

    Version of Record online : 29 APR 2013, DOI: 10.1002/humu.22319

  2. Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 151–164, Lucia Guidugli, Aura Carreira, Sandrine M. Caputo, Asa Ehlen, Alvaro Galli, Alvaro N.A. Monteiro, Susan L. Neuhausen, Thomas V.O. Hansen, Fergus J. Couch, Maaike P.G. Vreeswijk and ; on behalf of the ENIGMA consortium

    Version of Record online : 3 DEC 2013, DOI: 10.1002/humu.22478

  3. An Overview and Online Registry of Microvillus Inclusion Disease Patients and their MYO5B Mutations

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1597–1605, K. Joeri van der Velde, Herschel S. Dhekne, Morris A. Swertz, Serena Sirigu, Virginie Ropars, Petra C. Vinke, Trebor Rengaw, Peter C. van den Akker, Edmond H. H. M. Rings, Anne Houdusse and Sven C. D. van Ijzendoorn

    Version of Record online : 16 OCT 2013, DOI: 10.1002/humu.22440

  4. Analysis of Crossover Breakpoints Yields New Insights into the Nature of the Gene Conversion Events Associated with Large NF1 Deletions Mediated by Nonallelic Homologous Recombination

    Human Mutation

    Volume 35, Issue 2, February 2014, Pages: 215–226, Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N. Cooper and Hildegard Kehrer-Sawatzki

    Version of Record online : 2 DEC 2013, DOI: 10.1002/humu.22473

  5. Long-Standing Balancing Selection in the THBS4 Gene: Influence on Sex-Specific Brain Expression and Gray Matter Volumes in Alzheimer Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 743–753, Rachele Cagliani, Franca R. Guerini, Raquel Rubio-Acero, Francesca Baglio, Diego Forni, Cristina Agliardi, Ludovica Griffanti, Matteo Fumagalli, Uberto Pozzoli, Stefania Riva, Elena Calabrese, Martin Sikora, Ferran Casals, Giacomo P. Comi, Nereo Bresolin, Mario Cáceres, Mario Clerici and Manuela Sironi

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22301

  6. Patterns and Mutational Signatures of Tandem Base Substitutions Causing Human Inherited Disease

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1119–1130, Jian-Min Chen, Claude Férec and David N. Cooper

    Version of Record online : 20 MAY 2013, DOI: 10.1002/humu.22341

  7. Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 15–26, Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Magalhães Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cedric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Stéphane Richard, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, M. Leticia Ribeiro, Mary Frances McMullin, Holger Cario, on behalf of ECE-Consortium, Aurelie Chauveau, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de-Paillerets, Didem Altindirek, Felipe Lorenzo, Frederic Lambert, Harlev Dan, Sophie Gad-Lapiteau, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martin-Nuñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luis Relvas, Maria Leticia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben-Ami and Valérie Ugo

    Version of Record online : 22 OCT 2013, DOI: 10.1002/humu.22448

  8. Transduction-Specific ATLAS Reveals a Cohort of Highly Active L1 Retrotransposons in Human Populations

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 974–985, Catriona M. Macfarlane, Pamela Collier, Raheleh Rahbari, Christine R. Beck, John F. Wagstaff, Samantha Igoe, John V. Moran and Richard M. Badge

    Version of Record online : 23 APR 2013, DOI: 10.1002/humu.22327

  9. Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 669–685, Kevin Colclough, Christine Bellanne-Chantelot, Cecile Saint-Martin, Sarah E. Flanagan and Sian Ellard

    Version of Record online : 2 APR 2013, DOI: 10.1002/humu.22279

  10. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1329–1339, Esther van de Vosse, Margje H. Haverkamp, Noe Ramirez-Alejo, Mónica Martinez-Gallo, Lizbeth Blancas-Galicia, Ayşe Metin, Ben Zion Garty, Çağman Sun-Tan, Arnon Broides, Roelof A. de Paus, Özlem Keskin, Deniz Çağdaş, Ilhan Tezcan, Encarna Lopez-Ruzafa, Juan I. Aróstegui, Jacov Levy, Francisco J. Espinosa-Rosales, Özden Sanal, Leopoldo Santos-Argumedo, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Jaap T. van Dissel and Jacinta Bustamante

    Version of Record online : 8 AUG 2013, DOI: 10.1002/humu.22380

  11. You have full text access to this OnlineOpen article
    Prioritization of Genetic Variants in the microRNA Regulome as Functional Candidates in Genome-Wide Association Studies

    Human Mutation

    Volume 34, Issue 8, August 2013, Pages: 1049–1056, Brendan Bulik-Sullivan, Sara Selitsky and Praveen Sethupathy

    Version of Record online : 8 MAY 2013, DOI: 10.1002/humu.22337

  12. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22354

  13. Mitochondrial DNA Rearrangements in Health and Disease—A Comprehensive Study

    Human Mutation

    Volume 35, Issue 1, January 2014, Pages: 1–14, Joana Damas, David C. Samuels, João Carneiro, António Amorim and Filipe Pereira

    Version of Record online : 18 OCT 2013, DOI: 10.1002/humu.22452

  14. Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 927–936, Caroline Heintz, Richard G.H. Cotton and Nenad Blau

    Version of Record online : 1 MAY 2013, DOI: 10.1002/humu.22320

  15. Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1231–1241, Michael L. Nickerson, Kate M. Im, Kevin J. Misner, Wei Tan, Hong Lou, Bert Gold, David W. Wells, Hector C. Bravo, Karin M. Fredrikson, Timothy T. Harkins, Patrice Milos, Berton Zbar, W. Marston Linehan, Meredith Yeager, Thorkell Andresson, Michael Dean and G. Steven Bova

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22346

  16. 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

    Version of Record online : 8 MAY 2013, DOI: 10.1002/humu.22339

  17. In Vitro Correction of a Pseudoexon-Generating Deep Intronic Mutation in LGMD2A by Antisense Oligonucleotides and Modified Small Nuclear RNAs

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1387–1395, Lorea Blázquez, Ana Aiastui, Maria Goicoechea, Mafalda Martins de Araujo, Aurélie Avril, Cyriaque Beley, Luis García, Juan Valcárcel, Puri Fortes and Adolfo López de Munain

    Version of Record online : 7 AUG 2013, DOI: 10.1002/humu.22379

  18. Making Sense of Intratumor Genetic Heterogeneity: Altered Frequency of Androgen Receptor CAG Repeat Length Variants in Breast Cancer Tissues

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 610–618, Bruce Gottlieb, Carlos Alvarado, Chunlin Wang, Baback Gharizadeh, Farbod Babrzadeh, Brent Richards, Gerald Batist, Mark Basik, Lenore K. Beitel and Mark Trifiro

    Version of Record online : 8 MAR 2013, DOI: 10.1002/humu.22287

  19. You have full text access to this OnlineOpen article
    UBE2QL1 is Disrupted by a Constitutional Translocation Associated with Renal Tumor Predisposition and is a Novel Candidate Renal Tumor Suppressor Gene

    Human Mutation

    Volume 34, Issue 12, December 2013, Pages: 1650–1661, Naomi C. Wake, Christopher J. Ricketts, Mark R. Morris, Elena Prigmore, Susan M. Gribble, Anne-Bine Skytte, Michael Brown, Noel Clarke, Rosamonde E. Banks, Shirley Hodgson, Andrew S. Turnell, Eamonn R. Maher and Emma R. Woodward

    Version of Record online : 7 OCT 2013, DOI: 10.1002/humu.22433

  20. You have full text access to this OnlineOpen article
    Online Biomedical Resources for Malaria-Related Red Cell Disorders

    Human Mutation

    Volume 34, Issue 7, July 2013, Pages: 937–944, Frédéric B. Piel, Rosalind E. Howes, Oscar A. Nyangiri, Catherine L. Moyes, Thomas N. Williams, David J. Weatherall and Simon I. Hay

    Version of Record online : 8 MAY 2013, DOI: 10.1002/humu.22330