List of Publications
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Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA.
A novel Refsum-like disorder that maps to chromosome 20.Fiskerstrand T,
Neurology. 2008 Nov 12. [Epub ahead of print][PDF]
Bemmo A, Benovoy D, Kwan T, Gaffney DJ, Jensen RV, Majewski J.,
Gene Expression and Isoform Variation Analysis using Affymetrix Exon Arrays.
BMC Genomics. 2008 Nov 7;9(1):529[PDF]
Gaffney DJ, Blekhman R, Majewski, Selective constraints in experimentally defined primate regulatory regions.
J. PLoS Genet. 2008 Aug 15;4(8):e1000157[PDF]
Benovoy D, Kwan T,Majewski J. , Effect of polymorphisms within probe-target sequences on
olignonucleotide microarray experiments.
Nucleic Acids Res. 2008 Aug;36(13):4417-23.[PDF]
Kwan T, Benovoy D, Dias C, Gurd S, Provencher C, Beaulieu P, Hudson TJ, Sladek R, Majewski J. Genome-wide analysis of transcript isoform variation in humans. Nat Genet. 2008 Feb;40(2):225-31. [PDF]
Coulombe-Huntington J, Majewski J. Intron loss and gain in Drosophila. Mol Biol Evol. 2007 Dec;24(12):2842-50. [PDF]
Kwan T, Benovoy D, Dias C, Gurd S, Serre D, Zuzan H, Clark TA, Schweitzer A, Staples MK, Wang H, Blume JE, Hudson TJ, Sladek R, Majewski J. Heritability of alternative splicing in the human genome.Genome Res. 2007 Aug;17(8):1210-8. [PDF]
Coulombe-Huntington J, Majewski J. Characterization of intron loss events in mammals. Genome Res. 2007 Jan;17(1):23-32. [PDF]
Hrebícek M, (and 10 co-authors) Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet. 2006 Nov;79(5):807-19. [PDF]
Qu HQ, Lawrence SG, Guo F, Majewski J, Polychronakos C. Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms. BMC Genomics. 2006 Aug 17;7:213. [PDF]
Vylet'al P (and 8 co-authors), Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006 Sep;70(6):1155-69. [PDF]
Hodanová K, Majewski J (and 9 co-authors), Kmoch S. Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int. 2005 Oct;68(4):1472-82. [PDF]
Francis PJ, Schultz DW, Gregory AM, Schain MB, Barra R, Majewski J, Ott J, Acott T, Weleber RG, Klein ML. Genetic and phenotypic heterogeneity in pattern dystrophy. Br J Ophthalmol. 2005 Sep;89(9):1115-9. [PDF]
Schultz DW, Weleber RG, Lawrence G, Barral S, Majewski J, Acott TS, Klein ML. HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective. Ophthalmic Genet. 2005 Jun;26(2):101-5. Review. [PDF]
Bredrup C, Knappskog PM, Majewski J, Rødahl E and Boman H.
(2005) Congenital Stromal Dystrophy of the Cornea Caused by a Mutation
in the Decorin Gene. Investigative Ophthalmology and Visual Science. In
press. [PDF]
Willie E and Majewski J. (2004) Evidence for codon bias selection at
the pre-mRNA level in eukaryotes. Trends in Genetics, 20(11):534-8. [PDF]
Kim H, Klein R, Majewski J, Ott J. (2004) Mammals have a higher rate of
alternative splicing than invertebrates. Nature Genetics, 36(9):915-6. [PDF]
Louie EA, Ott J, Majewski J (2003) Nucleotide frequency variation across human genes. Genome Research, 13(12):2594-601. [PDF]
Majewski J (2003) Dependence of Mutational Asymmetry on Gene-Expression
Levels in the Human Genome. American Journal of Human Genetics,
73(3):688-92. [PDF]
Majewski J, Schultz DW, Weleber RG, Schain MB, Edwards AO, Matise TC,
Acott TS, Ott J, Klein ML. (2003) Age-Related Macular Degeneration-a
Genome Scan in Extended Families. American Journal of Human Genetics,
73(3):540-50. [PDF]
Schultz DW, Klein ML, Humpert A, Majewski J, Schain M, Weleber RG, Ott
J, Acott TS. (2003) Lack of an association of apolipoprotein E gene
polymorphisms with familial age-related macular degeneration. Arch
Ophthalmol. 121(5):679-83 [PDF]
Stiburková, B., Majewski, J., et al. (2003) Familial Juvenile
Hyperuricemic Nephropathy (FJHN): Linkage analysis in 15 families,
physical and transcriptional characterisation of the FJHN critical
region on chromosome 16p11.2 and the analysis of 7 candidate genes.
European Journal of Human Genetics, 11(2):145-54 [PDF]
Knappskog, P.M., Majewski, J., Livneh, A., Torgeir, P., Nilsen, E.,
Bringsli, J.S., Ott, J., and Boman, H. (2003) The Cold-induced sweating
syndrome is caused by mutations in the CRLF1 gene. American Journal of
Human Genetics, 72(2):375-83 [PDF]
Majewski, J. and Ott, J. (2003) “Amino acid substitutions in the
human genome - evolutionary implications of single nucleotide
polymorphisms," Gene, 305(2):167-73 [PDF]
Majewski, J. and Ott, J. (2002) Distribution and Characterization of
Regulatory Elements in the Human Genome, Genome Research, 12:1827-1836 [PDF]
Majewski, J (2001) To type or not to type - the use of unaffected
siblings in non-parametric linkage analysis. Genetic Epidemiology,
21(supp 1): S522-S527 [PDF]
Gordon D, Hoh J, Finch SJ, Levenstein MA, Edington J, Li W, Majewski J,
Ott J (2001) "Two approaches for consolidating results from genome
scans of complex traits: selection methods and scan statistics",
Genetic Epidemiology, 21(supp 1):S396-S402 [PDF]
Majewski J, Li H, Ott J (2001), "The Ising model in physics and
statistical genetics", American Journal of Human Genetics,
69(4):853-862 [PDF]
Majewski J (2001) Sexual Isolation in bacteria. FEMS Microbiology Letters 199:161-169. [PDF]
Stiburkova, B, Majewski, J, Sebesta I, Zhang, WY, Ott, J, and Kmoch, S
(2000) Familial juvenile hyperuricemic nephropathy: Localization of the
gene on chromosome 16p11.2 - and evidence for genetic heterogeneity.
American Journal Of Human Genetics 66: 1989-1994. [PDF]
Majewski J and Ott J (2000) GT repeats are associated with
recombination on human chromosome 22. Genome Research 10: 1108-1114. [PDF]
Majewski J, Zawadzki P, Pickerill P, Cohan FM, Dowson, CG (2000)
Barriers to genetic exchange between bacterial species –
Streptococcus pneumoniae transformation. J. Bacteriology 182: 1016-23. [PDF]
Majewski J and Cohan FM (1999) DNA sequence similarity requirements for
interspecific recombination in Bacillus. Genetics 153: 1525-1533. [PDF]
Majewski J and Cohan FM (1999) Adapt globally, act locally - a model of
periodic selection in bacteria. Genetics 152:1459-1474. [PDF]
Majewski J and Cohan FM (1998) The effect of mismatch repair and
heteroduplex formation on sexual isolation in Bacillus. Genetics 148:
13-18. [PDF]
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