List of Publications
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A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome
Delvallée C, Nicaise S, Antin M, Leuvrey A, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze J, Génin E, Redon R, Demurger F, Devriendt K, Mathieu‐Dramard M, Poitou‐Bernert C, Odent S, Katsanis N, Mandel J, Davis EE, Dollfus H, Muller J
Clinical Genetics. 2021 Feb 14;99(2):318–24
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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne M, Demory H, Moutal A, Vuillaume M-L, Blesson S, Thépault R-A, Marouillat S, Halewa J, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon A-S, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier F
American journal of human genetics. 2021;108(5):951–61
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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
van Gils J, Magdinier F, Fergelot P, Lacombe D
Genes. 2021 Jun 24;12(7):968
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A
Genetics in Medicine. 2021 Aug;23(8):1474–83
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk P-S, Khung S, Sigaudy S, Delezoide A-L, Goldenberg A, Jacquemont M-L, Lambert L, Layet V, Lyonnet S, Munnich A, van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison M-H, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau J-L, Tawk M, Gut I, Gitiaux C, Melki J
Journal of Medical Genetics. 2021 Apr 5;jmedgenet-2020-107595
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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
Angelini C, Trimouille A, Arveiler B, Espil-Taris C, Ichinose N, Lasseaux E, Tourdias T, Lacombe D
European Journal of Medical Genetics. 2021 Apr;64(4):104188
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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C
Human Genetics. 2021 Jun 21;140(6):933–44
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw‐Hautier J, Chassaing N, Lacombe D, Morice‐Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, van Kien PK, Chiaverini C, Giuliano F, Alessandri J, Mathieu‐Dramard M, Morin G, Bursztejn A, Mignot C, Doummar D, di Rocco F, Cornaton J, Nicolas C, Gautier E, Luu M, Bardou M, Sorlin A, Philippe C, Edery P, Rossi M, Carmignac V, Thauvin‐Robinet C, Vabres P, Faivre L
Clinical Genetics. 2021 May 20;99(5):650–61
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Dopachrome tautomerase variants in patients with oculocutaneous albinism
Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B
Genetics in Medicine. 2021 Mar;23(3):479–87
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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