List of Publications
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Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel A-L, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H, Délot EC, Démurger F, Denommé-Pichon A-S, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM
The American Journal of Human Genetics. 2021 Feb;108(2):346–56
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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