List of Publications

Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, di Donato N

Nature Reviews Neurology. 2020 Nov 7;16(11):618–35.

Denommé-Pichon A-S, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C ë C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant É, Delan, Isidor B, Pone J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel A-L, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze J-F, Sorlin A, Faivre L, Thauvin-Robinet C

European journal of human genetics : EJHG. 2021 Nov 15;

essiaen C, Racine C, Khatim A, Soussand L, Odent S, Lacombe D, Manouvrier S, Edery P, Sigaudy S, Geneviève D, Thauvin-Robinet C, Pasquier L, Petit F, Rossi M, Willems M, Attié-Bitach T, Roux-Levy P-H, Demougeot L, Slama L ben, Landais P, AnDDI-Rares network, Jannot A-S, Binquet C, Sandrin A, Verloes A, Faivre L

Orphanet journal of rare diseases. 2021;16(1):345.

Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomäus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan E-S, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Lüttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Löhner K, Rump P, Dias K-R, Evans C-A, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan E-C, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp H-J

Nature communications. 2020;11(1):5797.

Roux-Levy P-H, Bournez M, Masurel A, Jean N, Chancenotte S, Bordes M, Debomy F, Minot D, Schmitt E, Vinault S, Gautier E, Lacombe D, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Cornaton J, Gallard J, Héron D, Rastel C, Huet F, Thauvin-Robinet C, Verloes A, Binquet C, Tauber M, Lejeune C, Faivre L

European journal of medical genetics. 2020 Dec;63(12):104064.

Suard C, Flori A, Paoli F, Loundou A, Fouilloux V, Sigaudy S, Michel F, Antomarchi J, Moceri P, Paquis-Flucklinger V, D’Ercole C, Bretelle F

PloS one. 2020;15(10):e0239476.

Davies RW, Fiksinski AM, Breetvelt EJ, Williams NM, Hooper SR, Monfeuga T, Bassett AS, Owen MJ, Gur RE, Morrow BE, McDonald-McGinn DM, Swillen A, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, van Amelsvoort T, Arango C, Armando M, Campbell LE, Cubells JF, Eliez S, Garcia-Minaur S, Gothelf D, Kates WR, Murphy KC, Murphy CM, Murphy DG, Philip N, Repetto GM, Shashi V, Simon TJ, Suñer DH, Vicari S, Scherer SW, International 22q11.2 Brain and Behavior Consortium, Bearden CE, Vorstman JAS

Nature medicine. 2020;26(12):1912–8.

Hübner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, Begemann M, Elbracht M, Eggermann T

The Journal of clinical endocrinology and metabolism. 2020;105(7).

Lesinskienė S, Rojaka D, Praninskienė R, Morkūnienė A, Matulevičienė A, Utkus A

Journal of medical case reports. 2020 Oct 1;14(1):173.

Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH

Journal of medical genetics. 2020;57(10):660–3.