Mala Isrie

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 94 citations · Full text

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

Mala Isrie, Martin W. Breuss, Guoling Tian et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

Gain-of-function <i>FHF1</i> mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

Aleksandra Siekierska, Mala Isrie, Yue Liu et al. · Neurology · 2016 · 79 citations · Full text

Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants

Mala Isrie, Guido Froyen, Koenraad Devriendt et al. · European Journal of Medical Genetics · 2012 · 63 citations

Mendelian Disorder, Cytogenetics, Genetic Disorder +7

Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes

Susanne Roosing, Marta Romani, Mala Isrie et al. · Journal of Medical Genetics · 2016 · 63 citations · Full text