Publications

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Journal Article
Bosch DGM, F Boonstra N, Kinoshita T, Jhangiani S, de Ligt J, Cremers FPM, Lupski JR, Murakami Y, de Vries BBA. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015 ;23(12):1689-93.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan C-C, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MImran, Fasham J, Harlalka GV, Michaelides M, Moore AT, Akdemir ZHande Coba, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MAsif, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, S Riazuddin A, Crosby AH, J Hejtmancik F. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet. 2018 ;14(8):e1007504.
Bosch DGM, F Boonstra N, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FPM, de Vries BBA. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 ;24(5):660-5.
Bosch DGM, F Boonstra N, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LELM, Spruijt L, Blokland EAW, Chen C-A, Lewis RA, Tsai SY, Gibbs RA, Tsai M-J, Lupski JR, Zoghbi HY, Cremers FPM, de Vries BBA, Schaaf CP. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, Hollander AI den, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FPM, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet J-M. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. PLoS One. 2013 ;8(1):e51622.