Exome RNA sequencing reveals rare and novel alternative transcripts

di Halvardson, Jonatan, Zaghlool, Ammar, Feuk, Lars
Pubblicazione 2013

Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues

di Zaghlool, Ammar, Ameur, Adam, Nyberg, Linnea, Halvardson, Jonatan, Grabherr, Manfred, Cavelier, Lucia, Feuk, Lars
Pubblicazione 2013

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

di Lindholm Carlström, Eva, Halvardson, Jonatan, Etemadikhah, Mitra, Wetterberg, Lennart, Gustavson, Karl-Henrik, Feuk, Lars
Pubblicato in BMC Med Genomics (2019)

Spatial sexual dimorphism of X and Y homolog gene expression in the human central nervous system during early male development

di Johansson, Martin M., Lundin, Elin, Qian, Xiaoyan, Mirzazadeh, Mohammadreza, Halvardson, Jonatan, Darj, Elisabeth, Feuk, Lars, Nilsson, Mats, Jazin, Elena
Pubblicato in Biol Sex Differ (2016)

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

di Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii‐Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann‐Charlotte, Feuk, Lars
Pubblicato in Hum Mutat (2017)

A Role for the Chromatin‐Remodeling Factor BAZ1A in Neurodevelopment

di Zaghlool, Ammar, Halvardson, Jonatan, Zhao, Jin J., Etemadikhah, Mitra, Kalushkova, Antonia, Konska, Katarzyna, Jernberg‐Wiklund, Helena, Thuresson, Ann‐Charlotte, Feuk, Lars
Pubblicato in Hum Mutat (2016)

Novel Y-Chromosome Long Non-Coding RNAs Expressed in Human Male CNS During Early Development

di Johansson, Martin M., Pottmeier, Philipp, Suciu, Pascalina, Ahmad, Tauseef, Zaghlool, Ammar, Halvardson, Jonatan, Darj, Elisabeth, Feuk, Lars, Peuckert, Christiane, Jazin, Elena
Pubblicato in Front Genet (2019)

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy

di Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly
Pubblicazione 2014

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

di Thuresson, Ann‐Charlotte, Soussi Zander, Cecilia, Zhao, Jin J., Halvardson, Jonatan, Maqbool, Khurram, Månsson, Else, Stenninger, Eric, Holmlund, Ulrika, Öhrner, Ylva, Feuk, Lars
Pubblicato in Clin Genet (2018)

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

di Ramos, Jillian, Proven, Melissa, Halvardson, Jonatan, Hagelskamp, Felix, Kuchinskaya, Ekaterina, Phelan, Benjamin, Bell, Ryan, Kellner, Stefanie M., Feuk, Lars, Thuresson, Ann-Charlotte, Fu, Dragony
Pubblicato in RNA (2020)

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

di Spiegel, Ronen, Pines, Ophry, Ta-Shma, Asaf, Burak, Efrat, Shaag, Avraham, Halvardson, Jonatan, Edvardson, Shimon, Mahajna, Muhammad, Zenvirt, Shamir, Saada, Ann, Shalev, Stavit, Feuk, Lars, Elpeleg, Orly
Pubblicazione 2012

Mutations in HECW2 are associated with intellectual disability and epilepsy

di 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
Pubblicato in J Med Genet (2016)

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

di 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
Pubblicato in Am J Med Genet B Neuropsychiatr Genet (2017)

Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

di Mattisson, Jonas, Danielsson, Marcus, Hammond, Maria, Davies, Hanna, Gallant, Caroline J., Nordlund, Jessica, Raine, Amanda, Edén, Malin, Kilander, Lena, Ingelsson, Martin, Dumanski, Jan P., Halvardson, Jonatan, Forsberg, Lars A.
Pubblicato in Sci Rep (2021)

Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals

di Danielsson, Marcus, Halvardson, Jonatan, Davies, Hanna, Torabi Moghadam, Behrooz, Mattisson, Jonas, Rychlicka-Buniowska, Edyta, Jaszczyński, Janusz, Heintz, Julia, Lannfelt, Lars, Giedraitis, Vilmantas, Ingelsson, Martin, Dumanski, Jan P., Forsberg, Lars A.
Pubblicato in Eur J Hum Genet (2019)

Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

di Dumanski, Jan P., Halvardson, Jonatan, Davies, Hanna, Rychlicka-Buniowska, Edyta, Mattisson, Jonas, Moghadam, Behrooz Torabi, Nagy, Noemi, Węglarczyk, Kazimierz, Bukowska-Strakova, Karolina, Danielsson, Marcus, Olszewski, Paweł, Piotrowski, Arkadiusz, Oerton, Erin, Ambicka, Aleksandra, Przewoźnik, Marcin, Bełch, Łukasz, Grodzicki, Tomasz, Chłosta, Piotr L., Imreh, Stefan, Giedraitis, Vilmantas, Kilander, Lena, Nordlund, Jessica, Ameur, Adam, Gyllensten, Ulf, Johansson, Åsa, Józkowicz, Alicja, Siedlar, Maciej, Klich-Rączka, Alicja, Jaszczyński, Janusz, Enroth, Stefan, Baran, Jarosław, Ingelsson, Martin, Perry, John R. B., Ryś, Janusz, Forsberg, Lars A.
Pubblicato in Cell Mol Life Sci (2021)

Genetic predisposition to mosaic Y chromosome loss in blood

di Thompson, Deborah J., Genovese, Giulio, Halvardson, Jonatan, Ulirsch, Jacob C., Wright, Daniel J., Terao, Chikashi, Davidsson, Olafur B., Day, Felix R., Sulem, Patrick, Jiang, Yunxuan, Danielsson, Marcus, Davies, Hanna, Dennis, Joe, Dunlop, Malcolm G., Easton, Douglas F., Fisher, Victoria A., Zink, Florian, Houlston, Richard S., Ingelsson, Martin, Kar, Siddhartha, Kerrison, Nicola D., Kinnersley, Ben, Kristjansson, Ragnar P., Law, Philip J., Li, Rong, Loveday, Chey, Mattisson, Jonas, McCarroll, Steven A., Murakami, Yoshinori, Murray, Anna, Olszewski, Pawel, Rychlicka-Buniowska, Edyta, Scott, Robert A., Thorsteinsdottir, Unnur, Tomlinson, Ian, Torabi Moghadam, Behrooz, Turnbull, Clare, Wareham, Nicholas J., Gudbjartsson, Daniel F., Kamatani, Yoichiro, Hoffmann, Eva R., Jackson, Steve P., Stefansson, Kari, Auton, Adam, Ong, Ken K., Machiela, Mitchell J., Loh, Po-Ru, Dumanski, Jan P., Chanock, Stephen J., Forsberg, Lars A., Perry, John R. B.
Pubblicato in Nature (2019)