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Mana M Mehrjouy
Mana M Mehrjouy
Mehrjouy MM
Verified email at sund.ku.dk
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Year
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
792020
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
592016
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
592015
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
482018
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
432017
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
422016
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
232018
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
232018
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
212018
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
192018
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
162018
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
152015
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
142019
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
132015
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
92018
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
62019
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
52017
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
42022
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
42020
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
22021
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