Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

Bằng Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Được phát hành 2012

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Bằng Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M., Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M.
Xuất bản năm Neurology (2016)

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Bằng Mensah, Martin A., Hestand, Matthew S., Larmuseau, Maarten H. D., Isrie, Mala, Vanderheyden, Nancy, Declercq, Matthias, Souche, Erika L., Van Houdt, Jeroen, Stoeva, Radka, Van Esch, Hilde, Devriendt, Koen, Voet, Thierry, Decorte, Ronny, Robinson, Peter N., Vermeesch, Joris R.
Xuất bản năm PLoS Genet (2014)

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Bằng Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Xuất bản năm Am J Hum Genet (2015)

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Bằng Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Xuất bản năm J Med Genet (2016)