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 novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3

por Thuresson, Ann‐Charlotte, Croft, Brittany, Hailer, Yasmin D., Liminga, Gunnar, Arvidsson, Carl‐Göran, Harley, Vincent R., Stattin, Eva‐Lena
Publicado 2021

Reduced cell surface levels of GPI‐linked markers in a new case with PIGG loss of function

por Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado 2017

A Role for the Chromatin‐Remodeling Factor BAZ1A in Neurodevelopment

por Zaghlool, Ammar, Halvardson, Jonatan, Zhao, Jin J., Etemadikhah, Mitra, Kalushkova, Antonia, Konska, Katarzyna, Jernberg‐Wiklund, Helena, Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado 2016

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability

por Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars
Publicado 2018

Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder

por Ramos, Jillian, Proven, Melissa, Halvardson, Jonatan, Hagelskamp, Felix, Kuchinskaya, Ekaterina, Phelan, Benjamin, Bell, Ryan, Kellner, Stefanie M., Feuk, Lars, Thuresson, Ann-Charlotte, Fu, Dragony
Publicado 2020

Mutations in HECW2 are associated with intellectual disability and epilepsy

por Halvardson, Jonatan, Zhao, Jin J, Zaghlool, Ammar, Wentzel, Christian, Georgii-Hemming, Patrik, Månsson, Else, Ederth Sävmarker, Helena, Brandberg, Göran, Soussi Zander, Cecilia, Thuresson, Ann-Charlotte, Feuk, Lars
Publicado 2016

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

por Zhao, Jin J., Halvardson, Jonatan, Zander, Cecilia S., Zaghlool, Ammar, Georgii‐Hemming, Patrik, Månsson, Else, Brandberg, Göran, Sävmarker, Helena E., Frykholm, Carina, Kuchinskaya, Ekaterina, Thuresson, Ann‐Charlotte, Feuk, Lars
Publicado 2017

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

por Linhares, Natália Duarte, Freire, Maíra Cristina Menezes, Cardenas, Raony Guimarães Corrêa do Carmo Lisboa, Pena, Heloisa Barbosa, Lachlan, Katherine, Dallapiccola, Bruno, Bacino, Carlos, Delobel, Bruno, James, Paul, Thuresson, Ann-Charlotte, Annerén, Göran, Pena, Sérgio D. J.
Publicado 2016

P506: CLINICAL VALIDATION OF THE NORDIC GUIDELINES FOR GERMLINE TESTING IN MYELOID NEOPLASMS: RESULTS FROM A MULTI-CENTER PROSPECTIVE COHORT STUDY

por Tesi, Bianca, Eriksson, Anna, Baskin, Berivan, Lazarevic, Vladimir, Deneberg, Stefan, Höglund, Martin, Fogelstrand, Linda, Ungerstedt, Johanna, Pandzic, Tatjana, Tobiasson, Magnus, Gravdahl Garelius, Hege, Kuchinskaya, Ekaterina, Persson, Fredrik, Ågerstam, Helena, Uggla, Bertil, Hallböök, Helene, Fioretos, Thoas, Thuresson, Ann-Charlotte, Lehmann, Sören, Ladenvall, Claes, Barbany, Gisela, Vennström, Lovisa, Ejerblad, Elisabeth, Cavelier, Lucia, Cammenga, Jörg, Jädersten, Martin, Hellström Lindberg, Eva, Baliakas, Panagiotis
Publicado 2023