|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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