All publications in Pubmed:

Selected Publications

1. Cvejic A†*, Haer-Wigman L*, Stephens JC*, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, Fehrmann RS, Gray A, de Haas M, Haver VG, Jordan G, Karjalainen J, Kerstens HH, Kiddle G, Lloyd-Jones H, Needs M, Poole J, Soussan AA, Rendon A, Rieneck K, Sambrook JG, Schepers H, Silljé HH, Sipos B, Swinkels D, Tamuri AU, Verweij N, Watkins NA, Westra HJ, Stemple D, Franke L, Soranzo N, Stunnenberg HG, Goldman N, van der Harst P*, van der Schoot CE*, Ouwehand WH†*, Albers CA*† (2013) SMIM1 underlies the Vel blood group and influences red blood cell traits. Nature Genetics 45:542-45

2. Albers CA†, Newbury-Ecob R, Ouwehand WH, Ghevaert C. (2013) New insights into the genetic basis of TAR (thrombocytopenia absent radii) syndrome. Current Opinion in Genetics and Development 23:316-23

3. Paul DS*, Albers CA*, Rendon A*, Voss K, Stephens J, HaemGen Consortium, van der Harst P, Chambers JC, Soranzo N, Ouwehand WH*, Deloukas P*. (2013) Maps of open chromatin highlight cell type-specific patterns of regulatory sequence variation at hematological trait loci Genome Research 23:1130-41

4. Montgomery S*, Kvikstad E*, Goode D*, Albers CA, Zhang Z, Ananda G, Duret L, Sidow A, The 1000 Genomes Consortium, Gerstein M, Makova K, Marchini J, McVean G, Lunter G. (2013) Analysis of short insertion­deletion variation in 179 human genomes provide insight into their origin, dynamics and functional impact Genome Research 23:749-61

5. van der Harst P, Zhang W, Mateo Leach I, Rendon A, Verweij N, Sehmi J, Paul DS, Elling U, Allayee H, Li X, Radhakrishnan A, Tan ST, Voss K, Weichenberger CX, Albers CA, (160 others), Visscher PM, Vollenweider P, Wareham NJ, Wolffenbuttel BH, Boomsma DI, Beckmann JS, Dedoussis GV, Deloukas P, Ferreira MA, Sanna S, Uda M, Hicks AA, Penninger JM, Gieger C, Kooner JS, Ouwehand WH, Soranzo N, Chambers JC (2013) Seventy-five loci influencing the human red blood cell. Nature 492:369-75

6. 1000 Genomes Consortium (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65

7. Albers CA*†, Paul DS*, Schulze H*, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone B, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CAL, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R*, Ouwehand WH*, Ghevaert C*† (2012) Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nature Genetics 44:435-439

8. MacArthur DG, Balasubramanian S, Frankish A, Huang N, Morris J, Walter K, Jostins L, Habegger L, Pickrell JK, Montgomery SB, Albers CA, Zhang Z, Conrad DF, Lunter G, Zheng H, Ayub Q, DePristo MA, Banks E, Hu M, Handsaker RE, Rosenfeld J, Fromer M, Jin M, Mu XJ, Khurana E, Ye K, Kay M, Saunders HI, Suner M, Hunt T, Barnes I, 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 (2012) A systematic survey of loss-of-function variants in human protein-coding genes. Science 335:823-828

9. Albers CA*†, Cvejic A*, Favier R, Bouwmans EE, Alessi M, Bertone P, Jordan G, Kiddle G, Kostadima R, Read RJ, Sipos B, Sivapalaratnam S, Smethurst P, Stephens J, Voss K, Nurden A, Rendon A, Nurden P* & Ouwehand WH*† (2011) Exome sequencing identifies NBEAL2 as the causative gene for Gray Platelet Syndrome. Nature Genetics 43:735-37

10. Danecek P*, Auton A*, Abecasis G, Albers CA, Banks E, DePristo MA , Handsaker R, Lunter G, Marth G, Sherry ST, McVean G, Durbin R, and 1000 Genomes Project Analysis Group (2011) The Variant Call Format and VCFtools. Bioinformatics 27:2156-2158

11. 1000 Genomes Consortium (2010) A map of human genome variation from population-scale sequencing. Nature 467:1061-73.

12. Albers CA†, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R (2010) Dindel: Accurate Indel Calls from Short-Read Data Genome Research 21:961-73

13. Albers CA†, Stankovich J, Thomson T, Bahlo M, Kappen HJ (2008) Multipoint approximations of identity-by-descent probabilities for accurate linkage analysis of distantly-related individuals American Journal of Human Genetics 82:607-22

14. Albers CA†, Heskes T, Kappen HJ (2007) Haplotype inference in general pedigrees using the cluster variation method Genetics 177:1101-16

15. Albers CA†, Kappen HJ (2007) Modeling linkage disequilibrium in exact linkage computations: a comparison of first-order Markov approaches and the clustered-markers approach BMC Proceedings 1(Suppl 1):S159 Genetic Analysis Workshop 15: Gene Expression Analysis and Approaches to Detecting Multiple Functional Loci

16. Albers CA†, Leisink MAR, Kappen HJ (2006) The cluster variation method for efficient linkage analysis on extended pedigrees BMC Bioinformatics 7(Suppl 1):S1 NIPS workshop on New Problems and Methods in Computational Biology

17. Heskes T, Albers CA, Kappen HJ (2003) Approximate inference and constrained optimization Proceedings of Uncertainty in Artificial Intelligence 19 (UAI-2003) 313-20