| 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 | 106 | 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 | 83 | 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 | 73 | 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 | 67 | 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 | 60 | 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 | 57 | 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 | 37 | 2012 |
| 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 | 31 | 2014 |
| 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 | 30 | 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 | 17 | 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 | 17 | 2013 |
| 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 | 16 | 2021 |
| 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 | 14 | 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 | 9 | 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 | 7 | 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 | 7 | 2022 |
| 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 | 4 | 2011 |
| 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 | 3 | 2024 |
| 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 | 1 | 2023 |
| 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 | 1 | 2019 |
Alejandro SifrimLaboratory of Multi-omic Integrative Bioinformatics - Center of Human Genetics - KU LeuvenVerified email at kuleuven.be
