Publications

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Filters: Author is Posey, Jennifer E and Keyword is Haploinsufficiency  [Clear All Filters]
2021
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 NWaill, Alkuraya FS, Zahrani FAl, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FTran, Duffourd Y, Garret P, Bruel A-L, Callier P, Marle N, Denommé-Pichon A-S, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genet Med. 2021 ;23(10):1901-1911.
2023
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Mau-Them FTran, Wentzensen IM, Au KSing, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LWalentin, Brasch-Andersen C, Juul TMaxel, It FEl, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MDoco, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.