User Publications
Xiao X, Guo X, Jia X, Li S, Wang P, Zhang Q
Molecular Vision 2011; 17:3271-8
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H
Hum Mutat. 2012, 33:963-72
Supercentenarian genomes give a few clues to extreme human longevity.
Sebastiani, P., Riva, A., Montano, M., Pham, P., Torkamani, A., Scherba, E., Benson, G., Milton, J., Baldwin, C., Andersen, S., Schork, N., Steinberg, M., & Perls, T.
Front Genet. 2011, 2:90
Lenartowicz M, Grzmil P, Shoukier M, Starzyński R, Marciniak M, Lipiński P
Metallomics. 2012, 4:197-204
Yan G, Zhang G, Fang X, Zhang Y, Li C, Ling F, Cooper DN, Li Q, Li Y, van Gool AJ, Du H, Chen J, Chen R, Zhang P, Huang Z, Thompson JR, Meng Y, Bai Y, Wang J, Zhuo M, Wang T, Huang Y, Wei L, Li J, Wang Z, Hu H, Yang P, Le L, Stenson PD, Li B, Liu X, Ball EV, An N, Huang Q, Zhang Y, Fan W, Zhang X, Li Y, Wang W, Katze MG, Su B, Nielsen R, Yang H, Wang J, Wang X, Wang J.
Nat Biotechnol. 2011, 29:1019-23
The functional spectrum of low-frequency coding variation.
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, Depristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R
Genome Biol. 2011 Sep 14;12(9):R84
Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K.
Fertil Steril. 2011, 96(4):851-855.e1
Wu Y, Weber JL, Vladutiu GD, Tarnopolsky MA.
Mol Genet Metab. 2011, 104:587-91
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N.
Am J Med Genet A 2011 Jul;155A(7):1616-22.
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L.
Mol Genet Metab. 2011, 104:289-94
An excess of G over C nucleotides in mutagenesis of human genetic diseases.
Xiao L, Sun W, Zhang J, Zhou Y, Chen L, Gao H, Sirois P, Li K.
Mol Biotechnol 2011 May;48(1):1-6
Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O.
Genome Res 2011 May;21(5):658-64
Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
Stiburkova B, Ichida K, Sebesta I.
Mol Genet Metab 2011 Apr;102(4):430-5
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF
J Med Genet. 2011 Mar;48(3):160-7
Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F
J Med Genet. 2011 Feb;48(2):105-16
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A, Balwani M, Kasapkara CS, Ezgü FS, Okur I, Tümer L, Cakmak A, Nazarenko I, Yu C, Clavero S, Bishop DF, Desnick RJ.J Inherit Metab Dis. 2011 Feb;34(1):225-31
Clinical utility gene card for: Meckel syndrome.
Salonen R, Kestilä M, Bergmann C.
Eur J Hum Genet. 2011
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS, Rio M, Faivre d’Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforêt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N.
J Med Genet. 2011 Jan;48(1):16-23
Clinical assessment incorporating a personal genome.
Ashley EA, Butte AJ, Wheeler MT, Chen R, Klein TE, Dewey FE, Dudley JT, Ormond KE, Pavlovic A, Morgan AA, Pushkarev D, Neff NF, Hudgins L, Gong L, Hodges LM, Berlin DS, Thorn CF, Sangkuhl K, Hebert JM, Woon M, Sagreiya H, Whaley R, Knowles JW, Chou MF, Thakuria JV, Rosenbaum AM, Zaranek AW, Church GM, Greely HT, Quake SR, Altman RB.
Lancet 2010 May 1;375(9725):1525-35
Sequencing and analysis of an Irish human genome.
Tong P, Prendergast JG, Lohan AJ, Farrington SM, Cronin S, Friel N, Bradley DG, Hardiman O, Evans A, Wilson JF, Loftus B.
Genome Biol. 2010;11(9):R91
Ryanodine receptors: structure, expression, molecular details, and function in calcium release.
Lanner JT, Georgiou DK, Joshi AD, Hamilton SL
Cold Spring Harb Perspect Biol. 2010 Nov;2(11):a003996
A map of human genome variation from population-scale sequencing.
1000 Genomes Project Consortium, Durbin RM, Abecasis GR, Altshuler DL, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA
Nature. 2010 Oct 28;467(7319):1061-73
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.
Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B. Hum Mutat. 2010 Sep;31(9):1033-42
The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
García-Castro M, García C, Reguero JR, Miar A, Rubín JM, Alvarez V, Morís C, Coto E.
Rev Esp Cardiol 2010 Jul;63(7):856-9
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.
Has C, Burger B, Volz A, Kohlhase J, Bruckner-Tuderman L, Itin P
Dermatology. 2010;221(4):309-12
Ancient human genome sequence of an extinct Palaeo-Eskimo.
Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MT, Wang Y, Raghavan M, Campos PF, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li Z, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre TL, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham TF, Ramsey CB, Hansen TV, Nielsen FC, Crawford MH, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E
Nature. 2010 Feb 11;463(7282):757-62
Network-based elucidation of human disease similarities reveals common functional modules enriched for pluripotent drug targets.
Suthram S, Dudley JT, Chiang AP, Chen R, Hastie TJ, Butte AJ
PLoS Comput Biol. 2010 Feb 5;6(2):e1000662
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies.
Aarsand AK, Boman H, Sandberg S
Clin Chem. 2009 Apr;55(4):795-803
Structural bioinformatics analysis of disease-related mutations.
Seong-Jin Park, Sangho Oh, Daeui Park and Jong Bhak
Genomics & Informatics 2008 6(3): 142-146
The diploid genome sequence of an individual human.
Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC
PLoS Biol. 2007 Sep 4;5(10):e254
BIOBASE Publications
A systematic survey of loss-of-function variants in human protein-coding genes.
MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang ZD, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld JA, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders GI, Suner MM, Hunt T, Barnes IH, Amid C, Carvalho-Silva DR, Bignell AH, Snow C, Yngvadottir B, Bumpstead S, Cooper DN, Xue Y, Romero IG; 1000 Genomes Project Consortium, Wang J, Li Y, Gibbs RA, McCarroll SA, Dermitzakis ET, Pritchard JK, Barrett JC, Harrow J, Hurles ME, Gerstein MB, Tyler-Smith C.
Science. 2012 Feb 17;335(6070):823-8
Loss of exon identity is a common mechanism of human inherited disease.
Timothy Sterne-Weiler, Jonathan Howard, Matthew Mort, David N. Cooper, Jeremy R. Sanford
Genome Res. 2011 21: 1563-1571 originally published online July 12, 2011
On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.
Cooper DN, Bacolla A, Férec C, Vasquez KM, Kehrer-Sawatzki H, Chen JM.
Hum Mutat. 2011 Oct;32(10):1075-99
Loss of exon identity is a common mechanism of human inherited disease.
Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR.
Genome Res. 2011 Oct;21(10):1563-71
Chromosomal distribution of disease genes in the human genome.
Cooper DN, Ball EV, Mort M.
Genet Test Mol Biomarkers. 2010 Aug;14(4):441-6
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD.
Hum Mutat. 2010 Jun;31(6):631-55
The Human Gene Mutation Database: 2008 update.
Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN.
Genome Med. 2009 Jan 22;1(1):13
The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.
Cooper DN, Stenson PD, Chuzhanova NA.
Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13