• Issue
    2012
    v, 1501-1615, E2375-E2381
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The first human mitotic nonallelic homologous recombination hotspot associated with genetic disease

Jian-Min Chen, 
  • Page: v
  • First Published: 11 October 2012

Commentary
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Improving the rigor of mutation reports: Biologic parentage and de novo mutations†

Leslie Biesecker, 
  • Pages: 1501-1502
  • First Published: 19 June 2012

Special Article
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Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

George P. Patrinos,  David N. Cooper,  Erik van Mulligen,  Vassiliki Gkantouna,  Giannis Tzimas,  Zuotian Tatum,  Erik Schultes,  Marco Roos,  Barend Mons, 
  • Pages: 1503-1512
  • First Published: 26 June 2012
Special Article
Free Access

Human variome project country nodes: Documenting genetic information within a country†‡

George P. Patrinos,  Timothy D. Smith,  Heather Howard,  Fahd Al-Mulla,  Lotfi Chouchane,  Andreas Hadjisavvas,  Sherifa A. Hamed,  Xi-Tao Li,  Makia Marafie,  Rajkumar S. Ramesar,  Feliciano J. Ramos,  Thomy de Ravel,  Mona O. El-Ruby,  Tilak Ram Shrestha,  María-Jesús Sobrido,  Ghazi Tadmouri,  Martina Witsch-Baumgartner,  Bin Alwi Zilfalil,  Arleen D. Auerbach,  Kevin Carpenter,  Garry R. Cutting,  Vu Chi Dung,  Wayne Grody,  Julia Hasler,  Lynn Jorde,  Jim Kaput,  Milan Macek,  Yoichi Matsubara,  Carmancita Padilla,  Helen Robinson,  Augusto Rojas-Martinez,  Graham R. Taylor,  Mauno Vihinen,  Tom Weber,  John Burn,  Ming Qi,  Richard G. H. Cotton,  David Rimoin,  (International Confederation of Countries Advisory Council) , 
  • Pages: 1513-1519
  • First Published: 29 June 2012

Review
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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms†

Philippe M. Campeau,  James T. Lu,  Brian C. Dawson,  Ivo F. A. C. Fokkema,  Stephen P. Robertson,  Richard A. Gibbs,  Brendan H. Lee, 
  • Pages: 1520-1525
  • First Published: 19 June 2012
Review
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A guide for functional analysis of BRCA1 variants of uncertain significance†

Gaël A. Millot,  Marcelo A. Carvalho,  Sandrine M. Caputo,  Maaike P.G. Vreeswijk,  Melissa A. Brown,  Michelle Webb,  Etienne Rouleau,  Susan L. Neuhausen,  Thomas v. O. Hansen,  Alvaro Galli,  Rita D. Brandão,  Marinus J. Blok,  Aneliya Velkova,  Fergus J. Couch,  Alvaro N.A. Monteiro,  on behalf of the ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) Consortium Functional Assay Working Group , 
  • Pages: 1526-1537
  • First Published: 02 July 2012

Mutation Update
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Review and update of SPRED1 mutations causing legius syndrome†

Hilde Brems,  Eric Pasmant,  Rick Van Minkelen,  Katharina Wimmer,  Meena Upadhyaya,  Eric Legius,  Ludwine Messiaen, 
  • Pages: 1538-1546
  • First Published: 02 July 2012

Databases
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ABCMdb: A database for the comparative analysis of protein mutations in ABC transporters, and a potential framework for a general application†

Gergely Gyimesi,  Dávid Borsodi,  Hajnalka Sarankó,  Hedvig Tordai,  Balázs Sarkadi,  Tamás Hegedűs, 
  • Pages: 1547-1556
  • First Published: 12 June 2012

Research Article
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CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes†

Ayman El-Seedy,  Emmanuelle Girodon,  Caroline Norez,  Julie Pajaud,  Marie-Claude Pasquet,  Alix de Becdelièvre,  Thierry Bienvenu,  Marie des Georges,  Faïza Cabet,  Guy Lalau,  Eric Bieth,  Martine Blayau,  Frédéric Becq,  Alain Kitzis,  Pascale Fanen,  Véronique Ladeveze, 
  • Pages: 1557-1565
  • First Published: 07 June 2012
Research Article
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Oncogenic potential is related to activating effect of cancer single and double somatic mutations in receptor tyrosine kinases†

Kosuke Hashimoto,  Igor B. Rogozin,  Anna R. Panchenko, 
  • Pages: 1566-1575
  • First Published: 29 June 2012
Research Article
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Comprehensive functional assessment of MLH1 variants of unknown significance†

Ester Borràs,  Marta Pineda,  Angela Brieger,  Inga Hinrichsen,  Carolina Gómez,  Matilde Navarro,  Judit Balmaña,  Teresa Ramón y Cajal,  Asunción Torres,  Joan Brunet,  Ignacio Blanco,  Guido Plotz,  Conxi Lázaro,  Gabriel Capellá, 
  • Pages: 1576-1588
  • First Published: 26 June 2012

Research Article
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Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix†

Aileen M. Barnes,  Wayne A. Cabral,  MaryAnn Weis,  Elena Makareeva,  Edward L. Mertz,  Sergey Leikin,  David Eyre,  Carlos Trujillo,  Joan C. Marini, 
  • Pages: 1589-1598
  • First Published: 20 June 2012
Research Article
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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder†

Julia Vogt,  Tanja Mussotter,  Kathrin Bengesser,  Kathleen Claes,  Josef Högel,  Nadia Chuzhanova,  Chuanhua Fu,  Jenneke van den Ende,  Victor-Felix Mautner,  David N. Cooper,  Ludwine Messiaen,  Hildegard Kehrer-Sawatzki, 
  • Pages: 1599-1609
  • First Published: 26 July 2012

Methods
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Exome sequencing is an efficient tool for genetic screening of Charcot–Marie–Tooth Disease†

Byung-Ok Choi,  Soo Kyung Koo,  Mi-Hyun Park,  Hwanseok Rhee,  Song-Ju Yang,  Kyoung-Gyu Choi,  Sung-Chul Jung,  Han Su Kim,  Young Se Hyun,  Khriezhanuo Nakhro,  Hye Jin Lee,  Hae-Mi Woo,  Ki Wha Chung, 
  • Pages: 1610-1615
  • First Published: 21 June 2012

Database in Brief
Free Access

CNVD: Text mining-based copy number variation in disease database†

Fujun Qiu,  Yan Xu,  Kening Li,  Zihui Li,  Yufeng Liu,  Huizi DuanMu,  Shanzhen Zhang,  Zhenqi Li,  Zhiqiang Chang,  Yuanshuai Zhou,  Rui Zhang,  Shujuan Zhang,  Chunquan Li,  Yan Zhang,  Minzhai Liu,  Xia Li, 
  • Pages: E2375-E2381
  • First Published: 23 July 2012