• Issue
    2009
    v-vii, 1-133
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Publisher's Note
Free Access

Accepted article preprints, “In This Issue” featured papers, and updated design for Human Mutation in 2009

  • Page: v
  • First Published: 20 January 2009

In This Issue
Free Access

MITOMASTER: A model for Locus-Specific Mutation Databases

Richard G.H. Cotton, 
  • Page: vii
  • First Published: 20 January 2009
In This Issue
Free Access

Steps toward restoring functional dystrophin expression

Michel Goossens, 
  • Page: vii
  • First Published: 20 January 2009
In This Issue
Free Access

Continental SNPs go public: New ancestry informative markers for follow-up association studies

Pui-Yan Kwok, 
  • Page: vii
  • First Published: 20 January 2009

Databases
Free Access

MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences†

Marty C. Brandon,  Eduardo Ruiz-Pesini,  Dan Mishmar,  Vincent Procaccio,  Marie T. Lott,  Kevin Cuong Nguyen,  Syawal Spolim,  Upen Patil,  Pierre Baldi,  Douglas C. Wallace, 
  • Pages: 1-6
  • First Published: 19 June 2008

Rapid Communication
Free Access

IDH1 mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors†

Fonnet E. Bleeker,  Simona Lamba,  Sieger Leenstra,  Dirk Troost,  Theo Hulsebos,  W. Peter Vandertop,  Milo Frattini,  Francesca Molinari,  Margaret Knowles,  Aniello Cerrato,  Monica Rodolfo,  Aldo Scarpa,  Lara Felicioni,  Fiamma Buttitta,  Sara Malatesta,  Antonio Marchetti,  Alberto Bardelli, 
  • Pages: 7-11
  • First Published: 31 December 2008

Research Article
Full Access

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk†

M. Mitui,  S.A. Nahas,  L.T. Du,  Z. Yang,  C.H. Lai,  K. Nakamura,  S. Arroyo,  S. Scott,  A. Purayidom,  P. Concannon,  M. Lavin,  R.A. Gatti, 
  • Pages: 12-21
  • First Published: 16 July 2008
Research Article
Full Access

Characterization of a complex Duchenne muscular dystrophy–causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping†

Heidi R. Madden,  Sue Fletcher,  Mark R. Davis,  Steve D. Wilton, 
  • Pages: 22-28
  • First Published: 20 June 2008
Research Article
Full Access

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations†

W. Edward Visser,  Jurgen Jansen,  Edith C.H. Friesema,  Monique H.A. Kester,  Edna Mancilla,  Johan Lundgren,  Marjo S. van der Knaap,  Roelineke J. Lunsing,  Oebele F. Brouwer,  Theo J. Visser, 
  • Pages: 29-38
  • First Published: 17 July 2008
Research Article
Full Access

Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif†

Nick M. Makridakis,  Lúcio Fábio Caldas Ferraz,  Juergen K.V. Reichardt, 
  • Pages: 39-48
  • First Published: 11 July 2008
Research Article
Full Access

Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglycerides†

Pei Chen,  Yuh-Shan Jou,  Cathy SJ Fann,  Jaw-Wen Chen,  Chia-Min Chung,  Chin-Yu Lin,  Sheng-Yeu Wu,  Mei-Jyh Kang,  Ying-Chuang Chen,  Yuh-Shiun Jong,  Huey-Ming Lo,  Chih-Sen Kang,  Chien-Chung Chen,  Huan-Cheng Chang,  Nai-Kuei Huang,  Yi-Lin Wu,  Wen-Harn Pan, 
  • Pages: 49-55
  • First Published: 22 July 2008
Research Article
Full Access

Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases†

Sabrina Mitchell,  Clint Ellingson,  Thomas Coyne,  Lynn Hall,  Meaghan Neill,  Natalie Christian,  Catherine Higham,  Steven F. Dobrowolski,  Mendel Tuchman,  Marshall Summar, 
  • Pages: 56-60
  • First Published: 29 July 2008
Research Article
Full Access

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation†

Vera M. Kalscheuer,  Luciana Musante,  Cheng Fang,  Kirsten Hoffmann,  Celine Fuchs,  Eloisa Carta,  Emma Deas,  Kanamarlapudi Venkateswarlu,  Corinna Menzel,  Reinhard Ullmann,  Niels Tommerup,  Leda Dalprà,  Andreas Tzschach,  Angelo Selicorni,  Bernhard Lüscher,  Hans-Hilger Ropers,  Kirsten Harvey,  Robert J. Harvey, 
  • Pages: 61-68
  • First Published: 09 July 2008
Research Article
Full Access

Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America†

Roman Kosoy,  Rami Nassir,  Chao Tian,  Phoebe A. White,  Lesley M. Butler,  Gabriel Silva,  Rick Kittles,  Marta E. Alarcon-Riquelme,  Peter K. Gregersen,  John W. Belmont,  Francisco M. De La Vega,  Michael F. Seldin, 
  • Pages: 69-78
  • First Published: 06 August 2008
Research Article
Full Access

Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women†

Zhibin Hu,  Jie Liang,  Zhanwei Wang,  Tian Tian,  Xiaoyi Zhou,  Jiaping Chen,  Ruifen Miao,  Yan Wang,  Xinru Wang,  Hongbing Shen, 
  • Pages: 79-84
  • First Published: 16 July 2008
Research Article
Full Access

Glial Cells Missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism†

Lucie Canaff,  Xiang Zhou,  Irina Mosesova,  David E.C. Cole,  Geoffrey N. Hendy, 
  • Pages: 85-92
  • First Published: 19 August 2008
Research Article
Full Access

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines†

Merel S. Ebberink,  Petra A.W. Mooyer,  Janet Koster,  Conny J.M. Dekker,  François J.M. Eyskens,  Carlo Dionisi-Vici,  Peter T. Clayton,  Peter G. Barth,  Ronald J.A. Wanders,  Hans R. Waterham, 
  • Pages: 93-98
  • First Published: 19 August 2008

Methods
Full Access

Computational prediction of the functional effects of amino acid substitutions in signal peptides using a model-based approach†

Lawrence S. Hon,  Yan Zhang,  Joshua S. Kaminker,  Zemin Zhang, 
  • Pages: 99-106
  • First Published: 20 June 2008
Methods
Free Access

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs†

Maaike P.G. Vreeswijk,  Jaennelle N. Kraan,  Heleen M. van der Klift,  Geraldine R. Vink,  Cees J. Cornelisse,  Juul T. Wijnen,  Egbert Bakker,  Christi J. van Asperen,  Peter Devilee, 
  • Pages: 107-114
  • First Published: 08 August 2008
Methods
Full Access

Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes†

Anne Hartmann,  Marian Thieme,  Lahiri K. Nanduri,  Thomas Stempfl,  Christoph Moehle,  Toomas Kivisild,  Peter J. Oefner, 
  • Pages: 115-122
  • First Published: 11 July 2008
Methods
Full Access

A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance†

Maria Adelaide Caligo,  Fabrizia Bonatti,  Lucia Guidugli,  Paolo Aretini,  Alvaro Galli, 
  • Pages: 123-133
  • First Published: 04 August 2008