List of Publications
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Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau A-C, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel A-L, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L
Clinical genetics. 2021;99(3):407–17
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Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype
Cospain A, Schaefer E, Faoucher M, Dubourg C, Carré W, Bizaoui V, Assoumani J, van Maldergem L, Piton A, Gérard B, Tran Mau-Them F, Bruel A-L, Faivre L, Demurger F, Pasquier L, Odent S, Fradin M, Lavillaureix A
Clinical genetics. 2021;99(5):732–9
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Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants
Moortgat S, Manfroid I, Pendeville H, Freeman S, Bourdouxhe J, Benoit V, Merhi A, Philippe C, Faivre L, Maystadt I
Human mutation. 2021;42(7):827–34
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Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani F al, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel A-L, Callier P, Marle N, Denomme-Pichon A-S, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A
Genetics in medicine : official journal of the American College of Medical Genetics. 2021;23(10):1901–11
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The added value of the electrocardiogram in Noonan syndrome
Vos E, Leenders E, Werkman SR, Udink Ten Cate FEA, Draaisma JMT
Cardiology in the young. 2021 Aug 12;1–8
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Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome
Masnada S, Pichiecchio A, Formica M, Arrigoni F, Borrelli P, Accorsi P, Bonanni P, Borgatti R, Bernardina BD, Danieli A, Darra F, Deconinck N, de Giorgis V, Dulac O, Gataullina S, Giordano L, Guerrini R, la Briola F, Mastrangelo M, Montomoli M, Mortilla M, Osanni E, Parisi P, Perucca E, Pinelli L, Romaniello R, Severino M, Vigevano F, Vignoli A, Bahi-Buisson N, Cavallin M, Accogli A, Burgeois M, Capra V, Chaves-Vischer V, Chiapparini L, Colafati G, D’Arrigo S, Desguerre I, Doco-Fenzy M, d’Orsi G, Epitashvili N, Fazzi E, Ferretti A, Fiorini E, Fradin M, Fusco C, Granata T, Johannesen KM, Lebon S, Loget P, Moller RS, Montanaro D, Orcesi S, Quelin C, Rebessi E, Romeo A, Solazzi R, Spagnoli C, Uebler C, Zara F, Arzimanoglou A, Veggiotti P, Aicardi Syndrome International Study Group.
Neurology. 2021;96(9):e1319–33
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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