Evalena Stattin

A novel combination of genomic loci in ITGB2, COL5A1 and VEGFA associated with anterior cruciate ligament rupture susceptibility: insights from Australian, Polish, Swedish, and South African cohorts

Dlamini, Senanile B.; Saunders, Colleen J.; Cieszczyk, Pawel; Ficek, Krzysztof et al.

Part of Biology of Sport, p. 3-20, 2026

• DOI for A novel combination of genomic loci in ITGB2, COL5A1 and VEGFA associated with anterior cruciate ligament rupture susceptibility: insights from Australian, Polish, Swedish, and South African cohorts
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Sudden Arrhythmic Death Syndrome in the Young: Risk Factors are Identifiable Prior to Sudden Cardiac Arrest

Frisk Torell, Matilda; Svennblad, Bodil; Wisten, Aase; Börjesson, Erik et al.

Part of American Journal of Cardiology, p. 193-199, 2025

• DOI for Sudden Arrhythmic Death Syndrome in the Young: Risk Factors are Identifiable Prior to Sudden Cardiac Arrest
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The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach

van Roey, Victor L.; Ombashi, Saranda; Mathijssen, Irene M.J.; Munkhammar, Åsa A. et al.

Part of The Journal of Craniofacial Surgery, p. 2712-2716, 2025

• DOI for The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria; Höijer, Ida; Corcoran, Pádraic; Lysenkova, Mariya et al.

Part of Nature Genetics, p. 2287-2294, 2024

• DOI for Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

ten Berk de Boer, Esmee; Ameur, Adam; Bunikis, Ignas; Ek, Marlene et al.

Part of Scientific Reports, 2024

• DOI for Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
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A novel combination of genomic loci in ITGB2, COL5A1 and VEGFA associated with anterior cruciate ligament rupture susceptibility: insights from Australian, Polish, Swedish, and South African cohorts

Dlamini, Senanile B.; Saunders, Colleen J.; Cieszczyk, Pawel; Ficek, Krzysztof et al.

Part of Biology of Sport, p. 3-20, 2026

• DOI for A novel combination of genomic loci in ITGB2, COL5A1 and VEGFA associated with anterior cruciate ligament rupture susceptibility: insights from Australian, Polish, Swedish, and South African cohorts
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Sudden Arrhythmic Death Syndrome in the Young: Risk Factors are Identifiable Prior to Sudden Cardiac Arrest

Frisk Torell, Matilda; Svennblad, Bodil; Wisten, Aase; Börjesson, Erik et al.

Part of American Journal of Cardiology, p. 193-199, 2025

• DOI for Sudden Arrhythmic Death Syndrome in the Young: Risk Factors are Identifiable Prior to Sudden Cardiac Arrest
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The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach

van Roey, Victor L.; Ombashi, Saranda; Mathijssen, Irene M.J.; Munkhammar, Åsa A. et al.

Part of The Journal of Craniofacial Surgery, p. 2712-2716, 2025

• DOI for The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach
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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Delgado-Vega, Angelica Maria; Höijer, Ida; Corcoran, Pádraic; Lysenkova, Mariya et al.

Part of Nature Genetics, p. 2287-2294, 2024

• DOI for Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

ten Berk de Boer, Esmee; Ameur, Adam; Bunikis, Ignas; Ek, Marlene et al.

Part of Scientific Reports, 2024

• DOI for Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation
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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan

Stattin, Evalena; Lindblom, Karin; Struglics, Andre; Önnerfjord, Patrik et al.

Part of Scientific Reports, 2022

• DOI for Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan
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Family History and Warning Symptoms Precede Sudden Cardiac Death in Arrhythmogenic Right Ventricular Cardiomyopathy (From A Nationwide Study in Sweden)

Delgado-Vega, Angelica Maria; Kommata, Varvara; Svennblad, Bodil; Wisten, Aase et al.

Part of American Journal of Cardiology, p. 124-130, 2022

• DOI for Family History and Warning Symptoms Precede Sudden Cardiac Death in Arrhythmogenic Right Ventricular Cardiomyopathy (From A Nationwide Study in Sweden)
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Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs

Stattin, Evalena; Hagström, Emil; Dahl, Niklas; Strömsöe, Anneli et al.

Part of BMJ Open, 2022

• DOI for Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000-2010: a complete nationwide cohort of SCDs
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Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis

Eisfeldt, Jesper; Schuy, Jakob; Stattin, Eva-Lena; Kvarnung, Malin et al.

Part of International Journal of Molecular Sciences, 2022

• DOI for Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis
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Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury

Feldmann, Daneil C.; Rahim, Masouda; Suijkerbuijk, Mathijs A. M.; Laguette, Mary-Jessica N. et al.

Part of Journal of Orthopaedic Research, p. 1604-1612, 2022

• DOI for Investigation of multiple populations highlight VEGFA polymorphisms to modulate anterior cruciate ligament injury

Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy: A nationwide study among the young in Sweden

Börjesson, Erik; Svennblad, Bodil; Wisten, Aase; Börjesson, Mats et al.

Part of PLOS ONE, 2022

• DOI for Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy: A nationwide study among the young in Sweden
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Genetic and functional insights into CDA-I prevalence and pathogenesis

Olijnik, Aude-Anais; Roy, Noemi B. A.; Scott, Caroline; Marsh, Joseph A. et al.

Part of Journal of Medical Genetics, p. 185-195, 2021

• DOI for Genetic and functional insights into CDA-I prevalence and pathogenesis

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

Thuresson, Ann-Charlotte; Croft, Brittany; Hailer, Yasmin D.; Liminga, Gunnar et al.

Part of Clinical Genetics, p. 325-329, 2021

• DOI for A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3
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Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

Lennartsson, Otto; Lodefalk, Maria; Wehtje, Henrik; Stattin, Evalena et al.

Part of Frontiers in Endocrinology, 2021

• DOI for Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome
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Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Synurome

Baderkhan, Hassan; Wanhainen, Anders; Stenborg, Anna; Stattin, Evalena et al.

Part of European Journal of Vascular and Endovascular Surgery, p. 326-331, 2021

• DOI for Celiprolol Treatment in Patients with Vascular Ehlers-Danlos Synurome
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A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Baranowska Körberg, Izabella; Nowinski, Daniel; Bondeson, Marie-Louise; Melin, Malin et al.

Part of BMC Medical Genetics, 2020

• DOI for A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report
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High frequency of intermediary alleles in the HTT gene in Northern Sweden: The Swedish Huntingtin Alleles and Phenotype (SHAPE) study

Sundblom, Jimmy; Niemelä, Valter; Ghazarian, Maria; Strand, Ann-Sofi et al.

Part of Scientific Reports, 2020

• DOI for High frequency of intermediary alleles in the HTT gene in Northern Sweden: The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
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The Apoptosis Pathway and CASP8 Variants Conferring Risk for Acute and Overuse Musculoskeletal Injuries

Seale, Kirsten; Burger, Marilize; Posthumus, Michael; Hager, Charlotte K. et al.

Part of Journal of Orthopaedic Research, p. 680-688, 2020

• DOI for The Apoptosis Pathway and CASP8 Variants Conferring Risk for Acute and Overuse Musculoskeletal Injuries

Functional polymorphisms within the inflammatory pathway regulate expression of extracellular matrix components in a genetic risk dependent model for anterior cruciate ligament injuries

Suijkerbuijk, Mathijs A. M.; Ponzetti, Marco; Rahim, Masouda; Posthumus, Michael et al.

Part of Journal of Science and Medicine in Sport, p. 1219-1225, 2019

• DOI for Functional polymorphisms within the inflammatory pathway regulate expression of extracellular matrix components in a genetic risk dependent model for anterior cruciate ligament injuries

Exercise related sudden cardiac death (SCD) in the young - Pre-mortal characterization of a Swedish nationwide cohort, showing a decline in SCD among athletes

Wisten, Aase; Borjesson, Mats; Krantz, Peter; Stattin, Evalena

Part of Resuscitation, p. 99-105, 2019

• DOI for Exercise related sudden cardiac death (SCD) in the young - Pre-mortal characterization of a Swedish nationwide cohort, showing a decline in SCD among athletes

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

Clewemar, Pantelis; Hailer, Nils P.; Hailer, Yasmin; Klar, Joakim et al.

Part of Molecular Genetics & Genomic Medicine, 2019

• DOI for Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments
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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa et al.

Part of Clinical Genetics, p. 607-614, 2019

• DOI for Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

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

Frisk, Sofia; Taylan, Fulya; Blaszczyk, Izabela; Nennesmo, Inger et al.

Part of Clinical Genetics, p. 118-125, 2019

• DOI for Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease

Stattin, Eva-Lena; Johansson, Josefin; Gudmundsson, Sanna; Ameur, Adam et al.

Part of American Journal of Medical Genetics. Part A, p. 1405-1410, 2018

• DOI for A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin crease

Unravelling the mystery behind sudden death in the young - a wake-up call for nationwide autopsy-based approach: authors' reply.

Wisten, Aase; Kranz, Peter; Stattin, Evalena

Part of Europace, 2018

• DOI for Unravelling the mystery behind sudden death in the young - a wake-up call for nationwide autopsy-based approach: authors' reply.

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni, Alexandra; Segerlund, Emma; Hallgrimsdottir, Sigrun; Nilsson, Ola et al.

Part of Hormone Research in Paediatrics, p. 424-424, 2018

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G > T mutation in SNX10 gene

Xu, Maojia; Stattin, Evalena; Murphy, Mary; Barry, Frank

Part of Stem Cell Research, p. 51-54, 2017

• DOI for Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G > T mutation in SNX10 gene
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A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

Part of Prenatal Diagnosis, p. 1146-1154, 2017

• DOI for A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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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 genes

Olsson, K. Sigvard; Wålinder, Olof; Jansson, Ulf; Wilbe, Maria et al.

Part of Hereditas, 2017

• DOI for 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 genes
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Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study

Wisten, Aase; Krantz, Peter; Stattin, Evalena

Part of Europace, p. 1327-1334, 2017

• DOI for Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study

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

Winbo, Annika; Stattin, Evalena; Westin, Ida Maria; Norberg, Anna et al.

Part of BMC Medical Genetics, 2017

• DOI for 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
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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.

Stattin, Evalena; Henning, Petra; Klar, Joakim; McDermott, Emma et al.

Part of Scientific Reports, 2017

• DOI for SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
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Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Gkourogianni, Alexandra; Andrew, Melissa; Tyzinski, Leah; Crocker, Melissa et al.

Part of Journal of Clinical Endocrinology and Metabolism, p. 460-469, 2017

• DOI for Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Moutton, Sebastien; Fergelot, Patricia; Naudion, Sophie; Cordier, Marie-Pierre et al.

Part of Journal of Human Genetics, p. 693-699, 2016

• DOI for Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

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

Hannuksela, Matias; Stattin, Eva-Lena; Klar, Joakim; Ameur, Adam et al.

Part of BMC Medical Genetics, 2016

• DOI for A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description
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Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Wang, Zheng; Iida, Aritoshi; Miyake, Noriko; Nishiguchi, Koji M et al.

Part of PLOS ONE, 2016

• DOI for Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly

Xu, Maojia; Stattin, Eva-Lena; Shaw, Georgina; Heinegard, Dick et al.

Part of Stem Cells Translational Medicine, p. 1171-1181, 2016

• DOI for Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly

Disease Modelling with Mesenchymal Stromal Cells and Induced Pluripotent Cells Reveals an ER Stress Related Cellular Pathology in Patients with Familial Osteochondritis Dissecans

Xu, M.; Stattin, Evalena; Shaw, G.; Heinegard, D. et al.

Part of Tissue Engineering. Part A, 2016

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

Gazdagh, Gabriella; Hunt, David; Gonzalez, Anna Maria Cueto; Rodriguez, Monserrat Pons et al.

Part of American Journal of Medical Genetics. Part A, p. 1722-1740, 2023

• DOI for Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature
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