Mala Misra-Isrie

VU University of Amsterdam - Amsterdam / Netherlands

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 4703006

Vrije Universiteit Amsterdam

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Mala Misra-Isrie's MOST POPULAR ARTICLES

1-) Phenotypes and genotypes in individuals with SMC1A variantsS Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ...American Journal of Medical Genetics Part A 173 (8), 2108-2125, 2017772017

2-) Assessing the landscape of STXBP1-related disorders in 534 individualsJ Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ...Brain 145 (5), 1668-1683, 2022

3-) Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze TypeM Isrie, M Breuss, G Tian, AH Hansen, F Cristofoli, J Morandell, ...The American Journal of Human Genetics 97 (6), 790-800, 2015

4-) Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophyA Siekierska, M Isrie, Y Liu, C Scheldeman, N Vanthillo, L Lagae, ...Neurology 86 (23), 2162-2170, 2016772016

5-) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesS Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ...Journal of medical genetics 53 (9), 608-615, 2016712016

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