Mala Misra-Isrie
Mala Misra-Isrie
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Phenotypes and genotypes in individuals with SMC1A variants
S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ...
American Journal of Medical Genetics Part A 173 (8), 2108-2125, 2017
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
M Isrie, M Breuss, G Tian, AH Hansen, F Cristofoli, J Morandell, ...
The American Journal of Human Genetics 97 (6), 790-800, 2015
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
A Siekierska, M Isrie, Y Liu, C Scheldeman, N Vanthillo, L Lagae, ...
Neurology 86 (23), 2162-2170, 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
S Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ...
Journal of medical genetics 53 (9), 608-615, 2016
Assessing the landscape of STXBP1-related disorders in 534 individuals
J Xian, S Parthasarathy, SM Ruggiero, G Balagura, E Fitch, K Helbig, ...
Brain 145 (5), 1668-1683, 2022
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
M Isrie, Y Hendriks, N Gielissen, EA Sistermans, MH Willemsen, ...
European journal of human genetics 20 (2), 131-133, 2012
Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants
M Isrie, G Froyen, K Devriendt, T De Ravel, JP Fryns, JR Vermeesch, ...
European journal of medical genetics 55 (11), 577-585, 2012
Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams–Oliver syndrome and ARHGAP31 mutations
M Isrie, W Wuyts, H Van Esch, K Devriendt
American Journal of Medical Genetics Part A 164 (6), 1576-1579, 2014
Pseudoautosomal region 1 length polymorphism in the human population
MA Mensah, MS Hestand, MHD Larmuseau, M Isrie, N Vanderheyden, ...
PLoS genetics 10 (11), e1004578, 2014
Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities
M Isrie, MZ Esteki, H Peeters, T Voet, J Van Houdt, W Van Paesschen, ...
European journal of medical genetics 58 (4), 205-210, 2015
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
M Isrie, VM Kalscheuer, M Holvoet, N Fieremans, H Van Esch, ...
European journal of medical genetics 56 (7), 379-382, 2013
STXBP1 syndrome is characterized by inhibition-dominated dynamics of resting-state EEG
SJ Houtman, HCA Lammertse, AA van Berkel, G Balagura, E Gardella, ...
Frontiers in Physiology 12, 2293, 2021
Pathogenic neurofibromatosis type 1 (NF1) RNA splicing resolved by targeted RNAseq
R Koster, RD Brandão, D Tserpelis, CEP van Roozendaal, ...
NPJ Genomic Medicine 6 (1), 95, 2021
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
K Rooney, L van der Laan, S Trajkova, S Haghshenas, R Relator, ...
Genetics in Medicine 25 (8), 100871, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
M Aerden, AS Denommé-Pichon, D Bonneau, AL Bruel, J Delanne, ...
European Journal of Human Genetics 31 (4), 461-468, 2023
Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
L van der Laan, K Rooney, M Alders, R Relator, H McConkey, J Kerkhof, ...
International Journal of Molecular Sciences 23 (22), 13664, 2022
Reduced MUNC18-1 Levels, Synaptic Proteome Changes, and Altered Network Activity in STXBP1-Related Disorder Patient Neurons
AA van Berkel, HCA Lammertse, M Öttl, F Koopmans, M Misra-Isrie, ...
Biological psychiatry global open science 4 (1), 284-298, 2024
ATR-X syndrome in two siblings with a novel mutation (c. 6718C> T mutation in exon 31)
S Thakur, M Ishrie, R Saxena, S Danda, R Linda, A Viswabandya, ...
Indian Journal of Medical Research 134 (4), 483-486, 2011
Myotonic dystrophy presenting as severely dilated cardiomyopathy with out-of-hospital cardiac arrest
M Isrie, L Wong, JM van Hagen, AC Houweling
Netherlands Heart Journal 27, 54-55, 2019
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
N Maia, N Ibarluzea, M Misra‐Isrie, DC Koboldt, I Marques, G Soares, ...
American Journal of Medical Genetics Part A 191 (1), 135-143, 2023
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