Publikationer Lars Feuk

Publikationer i DiVA (Lars Feuk)

Publikationer i PubMed (Lars Feuk)


Ett urval av våra publikationer

  1. Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC#, Feuk L#. Mutations in HECW2 are associated with intellectual disability and epilepsy. Journal of Medical Genetics, 2016. # Equal contribution
     
  2. Zaghlool A, Halvardson J, Zhao JJ, Etemadikhah M, Kalushkova A, Konska K, Jernberg-Wiklund H, Thuresson AC, Feuk L. A role for chromatin-remodeling factor BAZ1A in neurodevelopment. Human Mutation 37, 964-75. 2016.
     
  3. Halvardson J, Zaghlool A, Feuk L. Exome RNA sequencing reveals rare and novel alternative transcripts. Nucleic Acids Research 1;41, e6. 2013.
     
  4. Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O. Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. American Journal Human Genetics 90, 518-523. 2012.
     
  5. Ameur A, Zaghlool A, Halvardson J, Wetterbom A, Gyllensten U, Cavelier L#, Feuk L#. Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nature Structural and Molecular Biology 18, 1435-40. 2011. # Equal contribution
     
  6. Johansson ACV and Feuk L. Characterization of copy number stable regions in the human genome. Human Mutation 32, 947-55. 2011.
     
  7. Pinto D, Darvishi K, Shi X, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, MacDonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. A comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nature Biotechnology 29,512–520. 2011.
     
  8. Pang AW, Macdonald JR, Pinto D, Wei J, Rafiq MA, Conrad D, Park H, Hurles M, Lee C, Venter JC, Kirkness E, Levy S, Feuk L#, Scherer SW#. Towards a comprehensive structural variation map of an individual human genome. Genome Biology, 11, R52. 2010. # Equal contribution
     
  9. Scherer SW, Lee C, Birney E, Altschuler D, Eichler EE, Carter NP, Hurles ME, Feuk L. Challenges and Standards in Integrating Surveys of Structural Variation. Nature Genetics, 39, S7-S15. 2007.
     
  10. Khaja R, Zhang J, MacDonald JR, He Y, Joseph-George AM, Wei J, Rafiq MA, Qian C, Shago M, Pantano L, Aburatani H, Jones K, Redon R, Hurles M, Armengol L, Estivill X, Mural RJ, Lee C, Scherer SW, Feuk L. Genome assembly comparison to identify structural variants in the human genome. Nature Genetics, 38, 1413-8. 2006.