The Human Gene Mutation Database: 2008 update
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* Corresponding author: David N Cooper cooperdn@cardiff.ac.uk
Genome Med 2009, 1:13 doi:10.1186/gm13
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BioMed Central: 11 citations
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Research
George Priya Doss C Journal of Biomedical Science 2012, 19:30 (16 March 2012) |
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Research article
Luca A Lotta, Mark Wang, Jin Yu, Ida Martinelli, Fuli Yu, Serena M Passamonti, Dario Consonni, Emanuela Pappalardo, Marzia Menegatti, Steven E Scherer, Lora L Lewis, Humeira Akbar, Yuanqing Wu, Matthew N Bainbridge, Donna M Muzny, Pier M Mannucci, Richard A Gibbs, Flora Peyvandi BMC Medical Genomics 2012, 5:7 (21 February 2012) |
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Method
Predicting the effects of frameshifting indels Jing Hu, Pauline C Ng Genome Biology 2012, 13:R9 (9 February 2012) SIFT Indel is a method for predicting the effects of frameshifting indels in coding regions
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Proceedings
Sheng-An Lee, Theresa Tsao, Ko-Chun Yang, Han Lin, Yu-Lun Kuo, Chien-Hsiang Hsu, Wen-Kuei Lee, Kuo-Chuan Huang, Cheng-Yan Kao BMC Bioinformatics 2011, 12(Suppl 13):S20 (30 November 2011) |
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Methodology article
Identification of genomic indels and structural variations using split reads Zhengdong D Zhang, Jiang Du, Hugo Lam, Alex Abyzov, Alexander E Urban, Michael Snyder, Mark Gerstein BMC Genomics 2011, 12:375 (25 July 2011) A new method for the identification of structural variations and indels based on split reads in short read sequencing allows discovery of the precise location and sequence of structural variants covering the whole size spectrum.
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Research
Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi, Catherine Vaurs-Barrière, David N Cooper, Mirella Filocamo Orphanet Journal of Rare Diseases 2011, 6:40 (16 June 2011) |
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Proceedings
The interplay between evolution, regulation and tissue specificity in the Human Hereditary Diseasome Shivashankar H Nagaraj, Aaron Ingham, Antonio Reverter BMC Genomics 2010, 11(Suppl 4):S23 (2 December 2010) |
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Research article
Makoto K Shimada, Yosuke Hayakawa, Jun-ichi Takeda, Takashi Gojobori, Tadashi Imanishi BMC Evolutionary Biology 2010, 10:122 (30 April 2010) |
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Proceedings
COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System Sungwoong Jho, Byoung-Chul Kim, Ho Ghang, Ji-Han Kim, Daeui Park, Hak-Min Kim, Soo-young Jung, Ki-young Yoo, Hee-Jin Kim, Sunghoon Lee, Jong Bhak BMC Genomics 2009, 10(Suppl 3):S35 (3 December 2009) |
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Review
microRNAs and genetic diseases Nicola Meola, Vincenzo Gennarino, Sandro Banfi PathoGenetics 2009, 2:7 (4 November 2009) |
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Research
Next generation sequence analysis for mitochondrial disorders Valeria Vasta, Sarah B Ng, Emily H Turner, Jay Shendure, Si Houn Hahn Genome Medicine 2009, 1:100 (23 October 2009) Early and accurate diagnosis of mitochondrial disorders is promised by a cost-effective screening method which can rapidly detect mutations in several hundred candidate genes.
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