List of Publications
-
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;
-
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.
-
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.
-
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.
-
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.
-
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.
-
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).
-
Juvenile Huntington’s disease: two case reports and a review of the literature
Lesinskienė S, Rojaka D, Praninskienė R, Morkūnienė A, Matulevičienė A, Utkus A
Journal of medical case reports. 2020 Oct 1;14(1):173.
-
Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes
Potuijt JWP, Hoogeboom J, de Graaff E, van Nieuwenhoven CA, Galjaard RJH
Journal of medical genetics. 2020;57(10):660–3.
-
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH
Journal of medical genetics. 2021;58(6):362–8.