Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes A Byrjalsen, TVO Hansen, UK Stoltze, MM Mehrjouy, NM Barnkob, ... PLoS genetics 16 (12), e1009231, 2020 | 80 | 2020 |
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 | 60 | 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 | 60 | 2015 |
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 | 48 | 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 | 44 | 2016 |
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 | 43 | 2017 |
De novo unbalanced translocations have a complex history/aetiology MC Bonaglia, NE Kurtas, E Errichiello, S Bertuzzo, S Beri, MM Mehrjouy, ... Human Genetics 137, 817-829, 2018 | 24 | 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 | 23 | 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 | 21 | 2018 |
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 | 19 | 2018 |
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, 1-8, 2018 | 16 | 2018 |
Prenatal screening for aneuploidies using QF-PCR and karyotyping: A comprehensive study in Iranian population ALIR SHAHRIARI, S Valizadegan, M Ghalandary, MM Mehrjouy, ... ARCHIVES OF IRANIAN MEDICINE 18 (5), 296-303, 2015 | 16 | 2015 |
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 | 14 | 2019 |
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 | 13 | 2015 |
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 | 9 | 2018 |
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 | 6 | 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), 17893, 2017 | 5 | 2017 |
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders C Lowther, MM Mehrjouy, RL Collins, MC Bak, O Dudchenko, H Brand, ... medRxiv, 2022.02. 15.22270795, 2022 | 4 | 2022 |
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), 27, 2020 | 4 | 2020 |
Rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families A Fatima, U Abdullah, M Farooq, Y Mang, MM Mehrjouy, M Asif, Z Ali, ... Genes 12 (12), 1899, 2021 | 2 | 2021 |