| Concurrent whole-genome haplotyping and copy-number profiling of single cells MZ Esteki, E Dimitriadou, L Mateiu, C Melotte, N Van der Aa, P Kumar, ... The American Journal of Human Genetics 96 (6), 894-912, 2015 | 169 | 2015 |
| Single-cell paired-end genome sequencing reveals structural variation per cell cycle T Voet, P Kumar, P Van Loo, SL Cooke, J Marshall, ML Lin, ... Nucleic acids research 41 (12), 6119-6138, 2013 | 169 | 2013 |
| A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease J Verheijen, T Van den Bossche, J van der Zee, S Engelborghs, ... Acta neuropathologica 132 (2), 213-224, 2016 | 103 | 2016 |
| Frequency and pattern of heteroplasmy in the complete human mitochondrial genome A Ramos, C Santos, L Mateiu, MM Gonzalez, L Alvarez, L Azevedo, ... PloS one 8 (10), e74636, 2013 | 93 | 2013 |
| Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains N Van der Aa, J Cheng, L Mateiu, MZ Esteki, P Kumar, E Dimitriadou, ... Nucleic acids research 41 (6), e66-e66, 2013 | 72 | 2013 |
| Nuclear insertions of mitochondrial origin: database updating and usefulness in cancer studies A Ramos, E Barbena, L Mateiu, M del Mar Gonzalez, Q Mairal, M Lima, ... Mitochondrion 11 (6), 946-953, 2011 | 56 | 2011 |
| Inferring complex DNA substitution processes on phylogenies using uniformization and data augmentation L Mateiu, B Rannala Systematic biology 55 (2), 259-269, 2006 | 43 | 2006 |
| Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease T Geuens, V De Winter, N Rajan, T Achsel, L Mateiu, L Almeida-Souza, ... Acta neuropathologica communications 5, 1-15, 2017 | 36 | 2017 |
| Validated primer set that prevents nuclear DNA sequences of mitochondrial origin co‐amplification: A revision based on the New Human Genome Reference Sequence (GRCh37) A Ramos, C Santos, E Barbena, L Mateiu, L Alvarez, R Nogués, MP Aluja Electrophoresis 32 (6‐7), 782-783, 2011 | 34 | 2011 |
| Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction J Van Lent, P Verstraelen, B Asselbergh, E Adriaenssens, L Mateiu, ... Brain 144 (8), 2471-2485, 2021 | 30 | 2021 |
| The role of endothelial autocrine NRG1/ERBB4 signaling in cardiac remodeling L Dugaucquier, E Feyen, L Mateiu, TAM Bruyns, GW De Keulenaer, ... American Journal of Physiology-Heart and Circulatory Physiology 319 (2 …, 2020 | 28 | 2020 |
| Bayesian inference of errors in ancient DNA caused by postmortem degradation LM Mateiu, BH Rannala Molecular Biology and Evolution 25 (7), 1503-1511, 2008 | 28 | 2008 |
| Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy S Bervoets, N Wei, ML Erfurth, S Yusein-Myashkova, B Ermanoska, ... Nature communications 10 (1), 5045, 2019 | 27 | 2019 |
| Charcot–Marie–Tooth disease type 2G redefined by a novel mutation in LRSAM1 K Peeters, P Palaima, AL Pelayo‐Negro, A García, E Gallardo, ... Annals of Neurology 80 (6), 823-833, 2016 | 18 | 2016 |
| Cardiac endothelial cell transcriptome in neonatal, adult, and remodeling hearts Z Vermeulen, L Mateiu, L Dugaucquier, GW De Keulenaer, VFM Segers Physiological genomics 51 (6), 186-196, 2019 | 11 | 2019 |
| Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations C Pottier, L Mateiu, MC Baker, M DeJesus-Hernandez, C Teixeira Vicente, ... Brain 145 (7), 2472-2485, 2022 | 9 | 2022 |
| An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling G Hendrickx, E Boudin, L Mateiu, TA Yorgan, E Steenackers, M Kneissel, ... Calcified Tissue International 114 (2), 171-181, 2024 | 1 | 2024 |
| Identification of a DLG3 stop mutation in the MRX20 family J Huyghebaert, L Mateiu, E Elinck, KE Van Rossem, B Christiaenssen, ... European Journal of Human Genetics, 1-7, 2024 | 1 | 2024 |
| Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder M Meuwissen, A Verstraeten, E Ranza, J Iwaszkiewicz, M Bastiaansen, ... Genetics in Medicine 24 (7), 1583-1591, 2022 | 1 | 2022 |
| Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome CP D’Incal, DJ Annear, E Elinck, JJ van der Smagt, M Alders, ... European Journal of Human Genetics, 1-9, 2024 | | 2024 |
Masoud Zamani EstekiAssociate professor @MaastrichtUMC+ & @Maastricht UniversityVerified email at mumc.nl
