2013 Publications PDF Print E-mail

- Released selective pressure on a structural domain gives new insights on the functional relaxation of mitochondrial aspartyl-tRNA synthetase.

Schwenzer H, Scheper GC, Zorn N, Moulinier L, Gaudry A, Leize E, Martin F, Florentz C, Poch O, Sissler M.

Biochimie, 2013 Oct 8. doi:pii: S0300-9084(13)00348-9

- PARSEC: PAtteRn SEarch and Contextualization.

Allot A, Anno YN, Poidevin L, Ripp R, Poch O, Lecompte O.

Bioinformatics. 2013; 29(20):2643-44

- The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C.

Hum. Mol. Genet., 2013 Sep 22.

- Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H.

Med. Genet., 2013 Sep 11.

- Detection and characterisation of mutations responsible for allele-specific protein thermostabilities at the Mn-Superoxide Dismutase gene in the deep-sea hydrothermal vent polychaete Alvinella pompejana.

Bruneaux M, Mary J, Verheye M, Lecompte O, Poch O, Jollivet D, Tanguy A.

J. Mol. Evol. 2013; 76(5):295-310

- Knowledge discovery in variant databases using inductive logic programming Bioinform.

Nguyen H, Luu TD, Poch O, Thompson JD.

Biol. Insights. 2013; 7:119-31.

- Seven New Loci Associated with Age-Related Macular degeneration.

AMD Gene Consortium.

Nat. Genet. 2013; 45(4):433-9

- Functional insights into the core-TFIIH from a comparative survey.

Bedez F, Linard B, Brochet X, Ripp R, Thompson JD, Moras D, Lecompte O, Poch O.

Genomics.2013; 101:178-186.

- Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuillé M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B; Congenital Stationary Night Blindness Consortium, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I.

Am J Hum Genet. 2013 Jan 10;92(1):67-75.