Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

por Aristidou, Constantia, Theodosiou, Athina, Ketoni, Andria, Bak, Mads, Mehrjouy, Mana M., Tommerup, Niels, Sismani, Carolina
Publicado 2018

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families

por Fatima, Ambrin, Abdullah, Uzma, Farooq, Muhammad, Mang, Yuan, Mehrjouy, Mana M., Asif, Maria, Ali, Zafar, Tommerup, Niels, Baig, Shahid M.
Publicado 2021

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

por Aristidou, Constantia, Koufaris, Costas, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Behjati, Farkhondeh, Tanteles, George, Christophidou-Anastasiadou, Violetta, Tommerup, Niels, Sismani, Carolina
Publicado 2017

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

por Luukkonen, Tiia Maria, Mehrjouy, Mana M., Pöyhönen, Minna, Anttonen, Anna‐Kaisa, Lahermo, Päivi, Ellonen, Pekka, Paulin, Lars, Tommerup, Niels, Palotie, Aarno, Varilo, Teppo
Publicado 2017

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

por Byrjalsen, Anna, Stoltze, Ulrik, Mehrjouy, Mana, Frederiksen, Jane Hübertz, Bak, Mads, Birkedal, Ulf, Hasle, Henrik, Gerdes, Anne‐Marie, Schmiegelow, Kjeld, Wadt, Karin, Hansen, Thomas van Overeem
Publicado 2023

Shaping the landscape of the Escherichia coli chromosome: replication-transcription encounters in cells with an ectopic replication origin

por Ivanova, Darja, Taylor, Toni, Smith, Sarah L., Dimude, Juachi U., Upton, Amy L., Mehrjouy, Mana M., Skovgaard, Ole, Sherratt, David J., Retkute, Renata, Rudolph, Christian J.
Publicado 2015

A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

por Bache, Iben, Wadt, Karin, Mehrjouy, Mana M., Rossing, Maria, Østrup, Olga, Byrjalsen, Anna, Tommerup, Niels, Metzner, Marlen, Vyas, Paresh, Schmiegelow, Kjeld, Lausen, Birgitte, Andersen, Mette K.
Publicado 2020

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

por Aristidou, Constantia, Theodosiou, Athina, Bak, Mads, Mehrjouy, Mana M., Constantinou, Efthymia, Alexandrou, Angelos, Papaevripidou, Ioannis, Christophidou-Anastasiadou, Violetta, Skordis, Nicos, Kitsiou-Tzeli, Sophia, Tommerup, Niels, Sismani, Carolina
Publicado 2018

Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing

por Łopacińska-Jørgensen, Joanna M., Pedersen, Jonas N., Bak, Mads, Mehrjouy, Mana M., Sørensen, Kristian T., Østergaard, Peter F., Bilenberg, Brian, Kristensen, Anders, Taboryski, Rafael J., Flyvbjerg, Henrik, Marie, Rodolphe, Tommerup, Niels, Silahtaroglu, Asli
Publicado 2017

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

por Byrjalsen, Anna, Hansen, Thomas V. O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne–Marie, Schmiegelow, Kjeld, Wadt, Karin
Publicado 2020