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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier A. Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 47:1260-3.


Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations.

Chaoui A. Kavo A, Baral V, Watanabe Y, Lecerf L, Colley A, Mendoza-Londono R, Pingault V, Bondurand N.

Hum Mol Genet. 2015 24:4933-4.


Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Alby C. Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh- Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa- Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier- Daire V, Attié-Bitach T, Thomas S.

Am J Hum Genet. 2015 97:311-8.


mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.

Steffann J. Monnot S, Bonnefont JP.

Clin Genet. 2015 88(5):416-24


Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Gérard X. Perrault I, Munnich A, Kaplan J, Rozet JM.

Mol Ther Nucleic Acids. 2015 4:e250.


Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Fares-Taie L. Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM.

Am J Hum Genet. 2015 96(4):631-9.


Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

Bizet AA. Becker-Heck A, Ryan R, Weber K, Filhol E, Krug P, Halbritter J, Delous M, Lasbennes MC, Linghu B, Oakeley EJ, Zarhrate M, Nitschké P, Garfa-Traore M, Serluca F, Yang F, Bouwmeester T, Pinson L, Cassuto E, Dubot P, Elshakhs NA, Sahel JA, Salomon R, Drummond IA, Gubler MC, Antignac C, Chibout S, Szustakowski JD, Hildebrandt F, Lorentzen E, Sailer AW, Benmerah A, Saint-Mezard P, Saunier S.

Nat Commun. 2015 6:8666.


TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Roberson EC. Dowdle WE, Ozanturk A, Garcia- Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié- Bitach T, Hildebrandt F, Leroux MR, Reiter JF.

J Cell Biol. 2015 209(1):129-42.


Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Akizu N. Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel- Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG.

Nat Genet. 2015 47(5):528-34.


An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Le Guen T. Touzot F, Andre-Schmutz I, Lagresle-Peyrou C, France B, Kermasson L, Lambert N, Picard C, Nitschke P, Carpentier W, Bole-Feysot C, Lim A, Cavazzana M, Callebaut I, Soulier J, Jabado N, Fischer A, de Villartay JP, Revy P.

J Allergy Clin Immunol 2015 136(6):1619-26.


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