MLGA—a rapid and cost-efficient assay for gene copy-number analysis

por Isaksson, Magnus, Stenberg, Johan, Dahl, Fredrik, Thuresson, Ann-Charlotte, Bondeson, Marie-Louise, Nilsson, Mats
Publicado 2007

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

por Körberg, Izabella, Nowinski, Daniel, Bondeson, Marie-Louise, Melin, Malin, Kölby, Lars, Stattin, Eva-Lena
Publicado 2020

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

por Johansson, Josefin, Lidéus, Sarah, Höijer, Ida, Ameur, Adam, Gudmundsson, Sanna, Annerén, Göran, Bondeson, Marie-Louise, Wilbe, Maria
Publicado 2023

Mutation in NRAS in familial Noonan syndrome – case report and review of the literature

por Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise
Publicado 2015

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

por Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise
Publicado 2017

Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 gen...

por Olsson, K. Sigvard, Wålinder, Olof, Jansson, Ulf, Wilbe, Maria, Bondeson, Marie-Louise, Stattin, Eva-Lena, Raha-Chowdhury, Ruma, Williams, Roger
Publicado 2017

Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing

por Höijer, Ida, Tsai, Yu‐Chih, Clark, Tyson A., Kotturi, Paul, Dahl, Niklas, Stattin, Eva‐Lena, Bondeson, Marie‐Louise, Feuk, Lars, Gyllensten, Ulf, Ameur, Adam
Publicado 2018

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

por Gudmundsson, Sanna, Wilbe, Maria, Ekvall, Sara, Ameur, Adam, Cahill, Nicola, Alexandrov, Ludmil B., Virtanen, Marie, Hellström Pigg, Maritta, Vahlquist, Anders, Törmä, Hans, Bondeson, Marie-Louise
Publicado 2017

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

por Gudmundsson, Sanna, Wilbe, Maria, Filipek-Górniok, Beata, Molin, Anna-Maja, Ekvall, Sara, Johansson, Josefin, Allalou, Amin, Gylje, Hans, Kalscheuer, Vera M., Ledin, Johan, Annerén, Göran, Bondeson, Marie-Louise
Publicado 2019

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

por Johansson, Josefin, Frykholm, Carina, Ericson, Katharina, Kazamia, Kalliopi, Lindberg, Amanda, Mulaiese, Nancy, Falck, Geir, Gustafsson, Per‐Erik, Lidéus, Sarah, Gudmundsson, Sanna, Ameur, Adam, Bondeson, Marie‐Louise, Wilbe, Maria
Publicado 2022

Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

por Höijer, Ida, Johansson, Josefin, Gudmundsson, Sanna, Chin, Chen-Shan, Bunikis, Ignas, Häggqvist, Susana, Emmanouilidou, Anastasia, Wilbe, Maria, den Hoed, Marcel, Bondeson, Marie-Louise, Feuk, Lars, Gyllensten, Ulf, Ameur, Adam
Publicado 2020

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

por Flex, Elisabetta, Jaiswal, Mamta, Pantaleoni, Francesca, Martinelli, Simone, Strullu, Marion, Fansa, Eyad K., Caye, Aurélie, De Luca, Alessandro, Lepri, Francesca, Dvorsky, Radovan, Pannone, Luca, Paolacci, Stefano, Zhang, Si-Cai, Fodale, Valentina, Bocchinfuso, Gianfranco, Rossi, Cesare, Burkitt-Wright, Emma M.M., Farrotti, Andrea, Stellacci, Emilia, Cecchetti, Serena, Ferese, Rosangela, Bottero, Lisabianca, Castro, Silvana, Fenneteau, Odile, Brethon, Benoît, Sanchez, Massimo, Roberts, Amy E., Yntema, Helger G., Van Der Burgt, Ineke, Cianci, Paola, Bondeson, Marie-Louise, Cristina Digilio, Maria, Zampino, Giuseppe, Kerr, Bronwyn, Aoki, Yoko, Loh, Mignon L., Palleschi, Antonio, Di Schiavi, Elia, Carè, Alessandra, Selicorni, Angelo, Dallapiccola, Bruno, Cirstea, Ion C., Stella, Lorenzo, Zenker, Martin, Gelb, Bruce D., Cavé, Hélène, Ahmadian, Mohammad R., Tartaglia, Marco
Publicado 2014