Recent Publications

1. A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas.

Nikolaev SI, Sotiriou SK, Pateras IS, Santoni F, Sougioultzis S, Edgren H, Almusa H, Robyr D, Guipponi M, Saarela J, Gorgoulis VG, Antonarakis SE, Halazonetis TD.

Cancer Res. 2012 Dec 1;72(23):6279-6289. PubMed PMID: 23204322.

 

2. Purifying selection in mammalian mitochondrial protein-coding genes is highly effective and congruent with evolution of nuclear genes.

Popadin KY, Nikolaev S, Junier T, Baranova M, Antonarakis SE.

Mol Biol Evol. 2012 Sep 14. [Epub ahead of print] PubMed PMID: 22983951.

 

3. Landscape of transcription in human cells.

Djebali S, Davis CA, Merkel A, Dobin A, Lassmann T, Mortazavi A, Tanzer A, Lagarde J, Lin W, Schlesinger F, Xue C, Marinov GK, Khatun J, Williams BA, Zaleski C, Rozowsky J, Röder M, Kokocinski F, Abdelhamid RF, Alioto T, Antoshechkin I, Baer MT, Bar NS, Batut P, Bell K, Bell I, Chakrabortty S, Chen X, Chrast J, Curado J, Derrien T, Drenkow J, Dumais E, Dumais J, Duttagupta R, Falconnet E, Fastuca M, Fejes-Toth K, Ferreira P, Foissac S, Fullwood MJ, Gao H, Gonzalez D, Gordon A, Gunawardena H, Howald C, Jha S, Johnson R, Kapranov P, King B, Kingswood C, Luo OJ, Park E, Persaud K, Preall JB, Ribeca P, Risk B, Robyr D, Sammeth M, Schaffer L, See LH, Shahab A, Skancke J, Suzuki AM, Takahashi H, Tilgner H, Trout D, Walters N, Wang H, Wrobel J, Yu Y, Ruan X, Hayashizaki Y, Harrow J, Gerstein M, Hubbard T, Reymond A, Antonarakis SE, Hannon G, Giddings MC, Ruan Y, Wold B, Carninci P, Guigó R, Gingeras TR.

Nature. 2012 Sep 6;489(7414):101-8. doi: 10.1038/nature11233. PubMed PMID: 22955620.

 

4. An integrated encyclopedia of DNA elements in the human genome.

ENCODE Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M.

Nature. 2012 Sep 6;489(7414):57-74. doi: 10.1038/nature11247. PubMed PMID: 22955616.

 

5. Extensive natural variation for cellular hydrogen peroxide release is genetically controlled.

Attar H, Bedard K, Migliavacca E, Gagnebin M, Dupré Y, Descombes P, Borel C, Deutsch S, Prokisch H, Meitinger T, Mehta D, Wichmann E, Delabar JM, Dermitzakis ET, Krause KH, Antonarakis SE.

PLoS One. 2012;7(8):e43566. Epub 2012 Aug 29. PubMed PMID: 22952707.

 

6. Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE.

Nature Genetics. 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026. PubMed PMID: 22197931.

 

7. Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Makrythanasis P, Gimelli S, Béna F, Dahoun S, Morris MA, Antonarakis SE, Bottani A. 

European Journal of Medical Genetics. 2012 Jan;55(1):63-6. Epub 2011 Nov 10. PubMed PMID: 22080113.

 

8. DNA methylation profiles of human active and inactive X chromosomes.

Sharp AJ, Stathaki E, Migliavacca E, Brahmachary M, Montgomery SB, Dupre Y, Antonarakis SE.

Genome Research. 2011 Oct;21(10):1592-600. Epub 2011 Aug 23. PubMed Central PMCID: PMC3202277; PubMed PMID: 21862626.

 

9. Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences.

Robyr D, Friedli M, Gehrig C, Arcangeli M, Marin M, Guipponi M, Farinelli L, Barde I, Verp S, Trono D, Antonarakis SE.

PLoS One. 2011 Mar 7;6(3):e17634. PubMed Central PMCID: PMC3049788; PubMed PMID: 21408183.