List of Publications
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky–Pudlak syndrome
Pennamen P, Tingaud‐Sequeira A, Michaud V, Morice‐Picard F, Plaisant C, Vincent‐Delorme C, Giuliano F, Azarnoush S, Capri Y, Marçon C, Lacombe D, Lasseaux E, Arveiler B
Pigment Cell & Melanoma Research. 2021 Jan 3;34(1):132–5
-
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier‐Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin‐Robinet C, Faivre L, Perrin L, Verloes A
Clinical Genetics. 2021 Apr 5;99(4):519–28
-
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, al Khouri M, Alembik Y, Baruteau J, Arnoux J-B, Brassier A, Brehin A-C, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S
Journal of medical genetics. 2021 Mar 18