List of Publications
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TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K, Kwiatkowski DJ
Genetics in Medicine. 2020 Sep;22(9):1489–97.
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What we learn about bipolar disorder from large‐scale neuroimaging: Findings and future directions from the ENIGMA Bipolar Disorder Working Group
Ching CRK, Hibar DP, Gurholt TP, Nunes A, Thomopoulos SI, Abé C, Agartz I, Brouwer RM, Cannon DM, Zwarte SMC, Eyler LT, Favre P, Hajek T, Haukvik UK, Houenou J, Landén M, Lett TA, McDonald C, Nabulsi L, Patel Y, Pauling ME, Paus T, Radua J, Soeiro‐de‐Souza MG, Tronchin G, Haren NEM, Vieta E, Walter H, Zeng L, Alda M, Almeida J, Alnæs D, Alonso‐Lana S, Altimus C, Bauer M, Baune BT, Bearden CE, Bellani M, Benedetti F, Berk M, Bilderbeck AC, Blumberg HP, Bøen E, Bollettini I, Mar Bonnin C, Brambilla P, Canales‐Rodríguez EJ, Caseras X, Dandash O, Dannlowski U, Delvecchio G, Díaz‐Zuluaga AM, Dima D, Duchesnay É, Elvsåshagen T, Fears SC, Frangou S, Fullerton JM, Glahn DC, Goikolea JM, Green MJ, Grotegerd D, Gruber O, Haarman BCM, Henry C, Howells FM, Ives‐Deliperi V, Jansen A, Kircher TTJ, Knöchel C, Kramer B, Lafer B, López‐Jaramillo C, Machado‐Vieira R, MacIntosh BJ, Melloni EMT, Mitchell PB, Nenadic I, Nery F, Nugent AC, Oertel V, Ophoff RA, Ota M, Overs BJ, Pham DL, Phillips ML, Pineda‐Zapata JA, Poletti S, Polosan M, Pomarol‐Clotet E, Pouchon A, Quidé Y, Rive MM, Roberts G, Ruhe HG, Salvador R, Sarró S, Satterthwaite TD, Schene AH, Sim K, Soares JC, Stäblein M, Stein DJ, Tamnes CK, Thomaidis G v., Upegui CV, Veltman DJ, Wessa M, Westlye LT, Whalley HC, Wolf DH, Wu M, Yatham LN, Zarate CA, Thompson PM, Andreassen OA
Human Brain Mapping. 2022 Jan 29;43(1):56–82.
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International consensus recommendations on the diagnostic work-up for malformations of cortical development
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.
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
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;
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
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.
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Germline AGO2 mutations impair RNA interference and human neurological development.
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.
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Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome
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.
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Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France
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.
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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome
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.
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HMGA2 Variants in Silver-Russell Syndrome: Homozygous and Heterozygous Occurrence
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).