LYONNET Stanislas : UMR_S1163 : Embryology and genetics of malformations

Unit : INSERM UMR_S1163 IHU Imagine - Institut des Maladies Génétiques - Université Paris Descartes

IHU Imagine - Institut des Maladies Génétiques
Hôpital Necker Enfants Malades
Equipe "Embryologie et génétique des malformations congénitales"
149, rue de Sèvres
75743 PARIS cedex 15

Speciality : Department DGNRV

Director of the unit : Alain FISCHER

Principal investigator :

LYONNET Stanislas
Email : stanilas.lyonnetSPAMFILTER@inserm.fr Phone number: +33 (0)1 44 49 51 36 / +33 (0)06 08 66 74 80

Composition of research team :

  • LYONNET Stanislas  (PU-PH, HDR)
  • AMIEL Jeanne (PU-PH, HDR)
  • ATTIE-BITACH Tania  (PU-PH, HDR) 
  • BAHI-BUISSON Nadia (MCU-PH, HDR)
  • PINGAULT Véronique (MCU-PH, HDR)
  • CLERGET-DARPOUX Françoise (DRE, Emerite)
  • THOMAS Sophie (CR1-INSERM)
  • GORDON Chris (Post-doc)
  • MARLIN Sandrine (PH-TP, HDR)
  • VEKEMANS Michel (PU-PH, HDR)
  • BONNET Damien (PU-PH, HDR)
  • DE PONTUAL Loic (PU-PH, HDR)
  • PELET Anna (IR INSERM)

5 Recent publications of the research team :

Cartault F, Munier P, Benko E, Desguerre I, Hanein S, Boddaert N, Bandiera S, Vellayoudom J, Krejbich-Trotot P, Bintner M, Hoarau JJ, Girard M, Génin E, de Lonlay P, Fourmaintraux A, Naville M, Rodriguez D, Feingold J, Renouil M, Munnich A, Westhof E, Fähling M, Lyonnet S, Henrion-Caude A. (2012) Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy. Proc Natl Acad Sci U S A. Mar 27;109(13):4980-5.

Putoux A*, Thomas S*, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. (2011). KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. Jun;43(6):601-6

de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, Van Haeringen A, Geneviève D, Goldenberg A, Oufadem M, Manouvrier S, Munnich A, Vidigal JA, Vekemans M, Lyonnet S, Henrion-Caude A, Ventura A, Amiel J. (2011). Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet. Sep 4;43(10):1026-30.

Valente EM*, Logan CV*, Mougou-Zerelli S*, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA*, Attié-Bitach T*, Gleeson JG*. (2010). Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. Jul;42(7):619-25.

Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon C, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees M, Picard A, Temple I, Thomas P, Vazquez MP, Vekemans M, RoestCrollius H, Hastie N, Munnich A, Etchevers H, Pelet A, Farlie P, Fitzpatrick D, Lyonnet S. (2009). Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009 Mar;41(3):359-64.