Screening for Familial Thoracic Aortic Aneurysms with Aortic Imaging Does Not Detect All Potential Carriers of the Disease

by Hannuksela, Matias, Stattin, Eva-Lena, Johansson, Bengt, Carlberg, Bo
Published in Aorta (Stamford) (2015)

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

by Körberg, Izabella, Nowinski, Daniel, Bondeson, Marie-Louise, Melin, Malin, Kölby, Lars, Stattin, Eva-Lena
Published in BMC Med Genet (2020)

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

by Hannuksela, Matias, Stattin, Eva-Lena, Klar, Joakim, Ameur, Adam, Johansson, Bengt, Sörensen, Karen, Carlberg, Bo
Published in BMC Med Genet (2016)

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

by Clewemar, Pantelis, Hailer, Nils P., Hailer, Yasmin, Klar, Joakim, Kindmark, Andreas, Ljunggren, Östen, Stattin, Eva‐Lena
Published in Mol Genet Genomic Med (2019)

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

by Winbo, Annika, Stattin, Eva-Lena, Nordin, Charlotte, Diamant, Ulla-Britt, Persson, Johan, Jensen, Steen M, Rydberg, Annika
Published 2014

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis

by Winbo, Annika, Stattin, Eva-Lena, Westin, Ida Maria, Norberg, Anna, Persson, Johan, Jensen, Steen M., Rydberg, Annika
Published in BMC Med Genet (2017)

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

by Hooper, Sean D, Johansson, Anna CV, Tellgren-Roth, Christian, Stattin, Eva-Lena, Dahl, Niklas, Cavelier, Lucia, Feuk, Lars
Published 2012

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

by Thuresson, Ann‐Charlotte, Croft, Brittany, Hailer, Yasmin D., Liminga, Gunnar, Arvidsson, Carl‐Göran, Harley, Vincent R., Stattin, Eva‐Lena
Published in Clin Genet (2021)

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

by Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise
Published in Prenat Diagn (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...

by Olsson, K. Sigvard, Wålinder, Olof, Jansson, Ulf, Wilbe, Maria, Bondeson, Marie-Louise, Stattin, Eva-Lena, Raha-Chowdhury, Ruma, Williams, Roger
Published in Hereditas (2017)

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study

by Sundblom, Jimmy, Niemelä, Valter, Ghazarian, Maria, Strand, Ann-Sofi, Bergdahl, Ingvar A., Jansson, Jan-Håkan, Söderberg, Stefan, Stattin, Eva-Lena
Published in Sci Rep (2020)

Genetic screening in sudden cardiac death in the young can save future lives

by Stattin, Eva-Lena, Westin, Ida Maria, Cederquist, Kristina, Jonasson, Jenni, Jonsson, Björn-Anders, Mörner, Stellan, Norberg, Anna, Krantz, Peter, Wisten, Aase
Published in Int J Legal Med (2015)

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

by Höijer, Ida, Tsai, Yu‐Chih, Clark, Tyson A., Kotturi, Paul, Dahl, Niklas, Stattin, Eva‐Lena, Bondeson, Marie‐Louise, Feuk, Lars, Gyllensten, Ulf, Ameur, Adam
Published in Hum Mutat (2018)

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

by Stattin, Eva-Lena, Boström, Ida Maria, Winbo, Annika, Cederquist, Kristina, Jonasson, Jenni, Jonsson, Björn-Anders, Diamant, Ulla-Britt, Jensen, Steen M, Rydberg, Annika, Norberg, Anna
Published 2012

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

by Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann
Published in Clin Genet (2019)

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

by Stattin, Eva-Lena, Wiklund, Fredrik, Lindblom, Karin, Önnerfjord, Patrik, Jonsson, Björn-Anders, Tegner, Yelverton, Sasaki, Takako, Struglics, André, Lohmander, Stefan, Dahl, Niklas, Heinegård, Dick, Aspberg, Anders
Published 2010

Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Respon...

by Xu, Maojia, Stattin, Eva-Lena, Shaw, Georgina, Heinegård, Dick, Sullivan, Gareth, Wilmut, Ian, Colman, Alan, Önnerfjord, Patrik, Khabut, Areej, Aspberg, Anders, Dockery, Peter, Hardingham, Timothy, Murphy, Mary, Barry, Frank
Published in Stem Cells Transl Med (2016)

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

by Mansouri, Mahmoud Reza, Schuster, Jens, Badhai, Jitendra, Stattin, Eva-Lena, Lösel, Ralf, Wehling, Martin, Carlsson, Birgit, Hovatta, Outi, Karlström, Per Olof, Golovleva, Irina, Toniolo, Daniela, Bione, Silvia, Peluso, John, Dahl, Niklas
Published 2008

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

by Renard, Marjolijn, Callewaert, Bert, Baetens, Machteld, Campens, Laurence, MacDermot, Kay, Fryns, Jean-Pierre, Bonduelle, Maryse, Dietz, Hal, Gaspar, Isabel Mendes, Cavaco, Diogo, Stattin, Eva-Lena, Schrander-Stumpel, Constance, Coucke, Paul, Loeys, Bart, De Paepe, Anne, De Backer, Julie
Published 2011

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

by Stattin, Eva-Lena, Henning, Petra, Klar, Joakim, McDermott, Emma, Stecksen-Blicks, Christina, Sandström, Per-Erik, Kellgren, Therese G., Rydén, Patrik, Hallmans, Göran, Lönnerholm, Torsten, Ameur, Adam, Helfrich, Miep H., Coxon, Fraser P., Dahl, Niklas, Wikström, Johan, Lerner, Ulf H.
Published in Sci Rep (2017)