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

Por Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Publicado em 2012

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

Por 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.
Publicado no Neurology (2016)

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

Por 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.
Publicado no PLoS Genet (2014)

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

Por 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
Publicado no Am J Hum Genet (2015)

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

Por 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
Publicado no J Med Genet (2016)