| A germline chromothripsis event stably segregating in 11 individuals through three generations B Bertelsen, L Nazaryan-Petersen, W Sun, MM Mehrjouy, G Xie, W Chen, ... Genetics in Medicine 18 (5), 494-500, 2016 | 39 | 2016 |
| Shaping the landscape of the Escherichia coli chromosome: replication-transcription encounters in cells with an ectopic replication origin D Ivanova, T Taylor, SL Smith, JU Dimude, AL Upton, MM Mehrjouy, ... Nucleic acids research 43 (16), 7865-7877, 2015 | 37 | 2015 |
| Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing C Aristidou, C Koufaris, A Theodosiou, M Bak, MM Mehrjouy, F Behjati, ... PloS one 12 (1), e0169935, 2017 | 25 | 2017 |
| Risks and recommendations in prenatally detected de novo balanced chromosomal rearrangements from assessment of long-term outcomes C Halgren, NM Nielsen, L Nazaryan-Petersen, A Silahtaroglu, RL Collins, ... The American Journal of Human Genetics 102 (6), 1090-1103, 2018 | 19 | 2018 |
| Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly Z Slamova, L Nazaryan‐Petersen, MM Mehrjouy, J Drabova, ... Human mutation 39 (5), 709-716, 2018 | 17 | 2018 |
| Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy G Rudolf, G Lesca, MM Mehrjouy, A Labalme, M Salmi, I Bache, ... European Journal of Human Genetics 24 (12), 1761-1770, 2016 | 15 | 2016 |
| De novo unbalanced translocations have a complex history/aetiology MC Bonaglia, NE Kurtas, E Errichiello, S Bertuzzo, S Beri, MM Mehrjouy, ... Human Genetics 137 (10), 817-829, 2018 | 12 | 2018 |
| Partial USH2A deletions contribute to Usher syndrome in Denmark S Dad, ND Rendtorff, E Kann, A Albrechtsen, MM Mehrjouy, M Bak, ... European Journal of Human Genetics 23 (12), 1646-1651, 2015 | 12 | 2015 |
| Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases C Aristidou, A Theodosiou, M Bak, MM Mehrjouy, E Constantinou, ... PloS one 13 (10), e0205298, 2018 | 11 | 2018 |
| Regulatory variants of FOXG1 in the context of its topological domain organisation MM Mehrjouy, ACS Fonseca, N Ehmke, G Paskulin, A Novelli, ... European Journal of Human Genetics 26 (2), 186-196, 2018 | 11 | 2018 |
| Prenatal screening for aneuploidies using QF-PCR and karyotyping: A comprehensive study in Iranian population P Rostami, S Valizadegan, M Ghalandary, MM Mehrjouy, GE Nia, ... Archives of Iranian medicine 18 (5), 0-0, 2015 | 10 | 2015 |
| Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement C Aristidou, A Theodosiou, A Ketoni, M Bak, MM Mehrjouy, N Tommerup, ... Molecular Cytogenetics 11 (1), 1-8, 2018 | 7 | 2018 |
| Breakpoint mapping and haplotype analysis of translocation t (1; 12)(q43; q21. 1) in two apparently independent families with vascular phenotypes TM Luukkonen, MM Mehrjouy, M Pöyhönen, AK Anttonen, P Lahermo, ... Molecular genetics & genomic medicine 6 (1), 56-68, 2018 | 5 | 2018 |
| Haploinsufficiency of ARHGAP42 is associated with hypertension AS Fjorder, MB Rasmussen, MM Mehrjouy, L Nazaryan-Petersen, ... European Journal of Human Genetics 27 (8), 1296-1303, 2019 | 4 | 2019 |
| Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing JM Łopacińska-Jørgensen, JN Pedersen, M Bak, MM Mehrjouy, ... Scientific reports 7 (1), 1-10, 2017 | 3 | 2017 |
| Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome L Nazaryan‐Petersen, IR Oliveira, MM Mehrjouy, JMM Mendez, M Bak, ... Human mutation 40 (8), 1057-1062, 2019 | 2 | 2019 |
| A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome I Bache, K Wadt, MM Mehrjouy, M Rossing, O Østrup, A Byrjalsen, ... Blood cancer journal 10 (3), 1-4, 2020 | 1 | 2020 |
| Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes A Byrjalsen, TVO Hansen, UK Stoltze, MM Mehrjouy, NM Barnkob, ... PLoS genetics 16 (12), e1009231, 2020 | | 2020 |
| Nationwide Germline Whole Genome Sequencing of 198 Consecutive Pediatric Cancer Patients Reveals a High Incidence of Cancer Prone Syndromes A Byrjalsen, T Hansen, U Stoltze, M Mehrjouy, N Barnkob, L Hjalgrim, ... Pediatric Blood & Cancer 67 (Suppl. 4), S323, 2020 | | 2020 |
| Multigenic involvement of the semaphorin-plexin pathway in Moebius syndrome by a germline chromothriptic rearrangement L Nazaryan-Petersen, I Rodrigues de Oliveira, MM Mehrjouy, JM Mendez, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1481-1481, 2019 | | 2019 |
