Mes recherches visent à comprendre les causes génétiques et les mécanismes du développement à l’origine des troubles cranio-faciaux, cardiaques et du neurodéveloppement. En étroite collaboration avec des cliniciens prenant en charge des patients atteints de maladies rares à l’hôpital Necker-Enfants malades, mon équipe utilise des techniques de séquençage du génome entier afin d’identifier de nouvelles causes de maladies. Nous avons recours à des modèles in vitro et in vivo (poisson-zèbre, souris), générés à l’aide d’outils d’édition du génome CRISPR/Cas9, pour étudier la pathogénicité et les conséquences développementales des variants identifiés chez les patients.

Amiel lab home page: https://www.institutimagine.org/fr/jeanne-amiel-et-laurence-legeai-mallet-75

ORCID ID: https://orcid.org/0000-0002-9300-8399

Selected publications:

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, ..., Lyonnet S, Busa T, Graziano C, Amiel J, Gordon CT.

Am J Hum Genet. 2025 Apr 3;112(4):829-845.

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, ..., Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT.

Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2317601121.

Biallelic truncating variants in VGLL2 cause syngnathia in humans.

Agostini V, Tessier A, Djaziri N, Khonsari RH, Galliani E, ..., Tuncbilek G, Picard A, Konas E, Amiel J, Gordon CT.

J Med Genet. 2023 Nov;60(11):1084-1091.

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding.

Kurihara Y, Ekimoto T, Gordon CT, Uchijima Y, Sugiyama R, ..., Asai R, Pingault V, Ikeguchi M, Amiel J, Kurihara H.

J Clin Invest. 2023 Feb 15;133(4):e151536.

Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, ..., Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT.

Hum Mol Genet. 2023 Jan 13;32(3):353-356.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, ..., Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT.

Am J Hum Genet. 2021 Jun 3;108(6):1138-1150.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, ..., Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT.

Genet Med. 2020 Jul;22(7):1215-1226.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, ..., Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.

Brain. 2020 Jan 1;143(1):55-68.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon CT, Xue S, Yigit G, Filali H, Chen K, ..., Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.

Nat Genet. 2017 Feb;49(2):249-255.

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, ..., Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.

Nat Genet. 2015 Nov;47(11):1260-3.

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.

Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares AL, ..., Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.

Am J Hum Genet. 2015 Apr 2;96(4):519-31.

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, ..., Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J.

Am J Hum Genet. 2013 Dec 5;93(6):1118-25.