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- Ann Nordgren
Ann Nordgren
Professor/överläkare
Avdelningen för Laboratoriemedicin-
Leveraging the T2T assembly to resolve rare and pathogenic inversions in reference genome
gaps
Kristine Bilgrav Saether, Jesper Eisfeldt, Jesse D. Bengtsson, Ming Yin Lun, Christopher M. Grochowski, Medhat Mahmoud, Hsiao-Tuan Chao, Jill A. Rosenfeld, Pengfei Liu, Marlene Ek, Jakob Schuy, Adam Ameur, Hongzheng Dai, James Paul Hwang, Fritz J. Sedlazeck, Weimin Bi, Ronit Marom, Josephine Wincent, Ann Nordgren, Claudia M. B. Carvalho, Anna Lindstrand
GENOME RESEARCH - 2024 -
Identification of biallelic <i>POLA2</i> variants in two families with an autosomal recessive telomere biology
disorder
Malin Kvarnung, Maria Pettersson, Pattra Chun-on, Maryam Rafati, Lisa J. Mcreynolds, Anna Norberg, Pedro Luis Moura, Ida Pesonen, Roza Chaireti, Boa Gronros Soderholm, Julia Burlin, Jenny Ryden, Eva Hellstroem Lindberg, Neelam Giri, Sharon A. Savage, Suneet Agarwal, Ann Nordgren, Bianca Tesi
EUROPEAN JOURNAL OF HUMAN GENETICS - 2024 -
Structural Variants in <i>COL1A1</i> and <i>COL1A2</i> in Osteogenesis
Imperfecta
Dominyka Batkovskyte, Diana Swolin-Eide, Anna Hammarsjo, Kristine Bilgrav Saether, Sofia Thunström, Johanna Lundin, Jesper Eisfeldt, Anna Lindstrand, Ann Nordgren, Eva Astrom, Giedre Grigelioniene
AMERICAN JOURNAL OF MEDICAL GENETICS PART A - 2024 -
Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the
literature
Carolina Maya-Gonzalez, Angelica Maria Delgado-Vega, Fulya Taylan, Kristina Lagerstedt Robinson, Lina Hansson, Niklas Pal, Henrik Fagman, Florian Puls, Sandra Wessman, Jakob Stenman, Kleopatra Georgantzi, Susanne Fransson, Teresita Diaz De Stahl, Torben Ek, Ruth H. Palmer, Bianca Tesi, Per Kogner, Tommy Martinsson, Ann Nordgren
AMERICAN JOURNAL OF MEDICAL GENETICS PART A - 2024 -
Cancer risk in individuals with polydactyly: a Swedish population-based cohort
study
Alexandra Wachtmeister, Giorgio Tettamanti, Ida Nordgren, Christina Norrby, Tobias Laurell, Yunxia Lu, Anna Skarin Nordenvall, Ann Nordgren
BRITISH JOURNAL OF CANCER - 2024 -
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network
International
Elizabeth Emma Palmer, Helene Cederroth, Mikk Cederroth, Angelica Maria Delgado-Vega, Natalie Roberts, Fulya Taylan, Ann Nordgren, Lorenzo D. Botto
NPJ GENOMIC MEDICINE - 2024 -
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish
study.
Bianca Tesi, Kristina Lagerstedt Robinson, Frida Abel, Teresita Díaz de Ståhl, Sara Orrsjö, Anna Poluha, Maria Hellberg, Sandra Wessman, Sofie Samuelsson, Tony Frisk, Hartmut Vogt, Karin Henning, Magnus Sabel, Torben Ek, Niklas Pal, Per Nyman, Geraldine Giraud, Joakim Wille, Cornelis Jan Pronk, Ulrika Norén-Nyström, Magnus Borssén, Maria Fili, Gustav Stålhammar, Nikolas Herold, Giorgio Tettamanti, Carolina Maya-Gonzalez, Linda Arvidsson, Anna Rosén, Katja Ekholm, Ekaterina Kuchinskaya, Anna-Lotta Hallbeck, Margareta Nordling, Pia Palmebäck, Per Kogner, Gunilla Kanter Smoler, Päivi Lähteenmäki, Susanne Fransson, Tommy Martinsson, Alia Shamik, Fredrik Mertens, Richard Rosenquist, Valtteri Wirta, Emma Tham, Pernilla Grillner, Johanna Sandgren, Gustaf Ljungman, David Gisselsson, Fulya Taylan, Ann Nordgren
The Lancet regional health. Europe - 2024 -
Symptoms of autism in Williams syndrome: a transdiagnostic
approach
Charlotte Willfors, Jacqueline Borg, Johan Lundin Kleberg, Astrid Hallman, Marcus Van Der Poll, Karl Lundin Remnelius, Hanna Bjorlin Avdic, Sven Bolte, Ann Nordgren
SCIENTIFIC REPORTS - 2024 -
Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain
interactions
J. Johansson, S. Lideus, C. Frykholm, C. Gunnarsson, F. Mihalic, S. Gudmundsson, S. Ekvall, A. M. Molin, M. Pham, M. Vihinen, K. Lagerstedt-Robinson, Ann Nordgren, P. Jemth, A. Ameur, G. Anneren, M. Wilbe, M. L. Bondeson
European Journal of Human Genetics - 2024 -
Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With
Cancer.
Elisabeth Wadensten, Sandra Wessman, Frida Abel, Teresita Diaz De Ståhl, Bianca Tesi, Christina Orsmark Pietras, Linda Arvidsson, Fulya Taylan, Susanne Fransson, Hartmut Vogt, Anna Poluha, Sailendra Pradhananga, Maria Hellberg, Kristina Lagerstedt-Robinson, Praveen Raj Somarajan, Sofie Samuelsson, Sara Orrsjö, Khurram Maqbool, Karin Henning, Tobias Strid, Torben Ek, Henrik Fagman, Thomas Olsson Bontell, Tommy Martinsson, Florian Puls, Per Kogner, Valtteri Wirta, Cornelis Jan Pronk, Joakim Wille, Richard Rosenquist, Monica Nistér, Fredrik Mertens, Magnus Sabel, Ulrika Norén-Nyström, Pernilla Grillner, Ann Nordgren, Gustaf Ljungman, Johanna Sandgren, David Gisselsson
JCO Precision Oncology (JCO PO) - 2023 -
Precision medicine in rare diseases: What is
next?
B. Tesi, C. Boileau, K. M. Boycott, G. Canaud, M. Caulfield, D. Choukair, S. Hill, M. Spielmann, A. Wedell, V. Wirta, Ann Nordgren, A. Lindstrand
Journal of Internal Medicine - 2023 -
International Undiagnosed Diseases Programs (UDPs): components and
outcomes
E. Curic, L. Ewans, R. Pysar, F. Taylan, L. D. Botto, Ann Nordgren, W. Gahl, E. E. Palmer
Orphanet Journal of Rare Diseases - 2023 -
Reduced effects of social feedback on learning in Turner
syndrome
H. B. Avdic, C. Strannegård, H. Engberg, C. Willfors, I. Nordgren, L. Frisén, A. L. Hirschberg, M. Guath, Ann Nordgren, J. L. Kleberg
Scientific Reports - 2023 -
Social feedback enhances learning in Williams
syndrome.
Johan Lundin Kleberg, Charlotte Willfors, Hanna Björlin Avdic, Deborah Riby, Martyna A Galazka, Mona Guath, Ann Nordgren, Claes Strannegård
Scientific reports - 2023 -
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of
eL13
P. Jacob, H. Lindelöf, C. F. Rustad, V. R. Sutton, S. Moosa, P. Udupa, A. Hammarsjö, G. S. Bhavani, D. Batkovskyte, K. Tveten, A. Dalal, E. Horemuzova, Ann Nordgren, E. Tham, H. T. Shah, E. Merckoll, L. Orellana, G. Nishimura, K. M. Girisha, G. Grigelioniene
NPJ GENOMIC MEDICINE - 2023 -
No transfer of arousal from other’s eyes in Williams
syndrome
Johan Lundin Kleberg, Astrid E.Z. Hallman, Deborah M. Riby, Martyna A Galazka, Sven Bölte, Charlotte Willfors, Christine Fawcett, Ann Nordgren
Scientific Reports - 2023 -
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related
Disorders
D. Batkovskyte, F. McKenzie, F. Taylan, P. O. Simsek-Kiper, S. M. Nikkel, H. Ohashi, R. E. Stevenson, T. Ha, D. P. Cavalcanti, H. Miyahara, S. A. Skinner, M. A. Aguirre, Z. Akcoeren, G. E. Utine, T. Chiu, K. Shimizu, A. Hammarsjoe, K. Boduroglu, H. W. Moore, R. J. Louie, P. Arts, A. N. Merrihew, M. Babic, M. R. Jackson, N. Papadogiannakis, A. Lindstrand, Ann Nordgren, C. P. Barnett, H. S. Scott, Andrei S. Chagin, G. Nishimura, G. Grigelioniene
Journal of Bone and Mineral Research - 2023 -
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting
relaxation
C. Maya-Gonzalez, S. Wessman, K. Lagerstedt-Robinson, F. Taylan, B. Tesi, E. Kuchinskaya, W. G. McCluggage, A. Poluha, S. Holm, R. Nergardh, T. D. De Stahl, C. Hoybye, G. Tettamanti, A. M. Delgado-Vega, A. S. Nordenvall, Ann Nordgren
Frontiers in medicine - 2023 -
Precision medicine and rare diseases in pediatric
urology
Ann Nordgren, A. Lindstrand, H. Y. Wu, M. Fossum
Journal of Pediatric Urology - 2023 -
Evidence of seasonal variation of childhood acute lymphoblastic leukemia in
Sweden
Gleb Bychkov, Benedicte Bang, Nikas Engsner, Mats Heyman, Anna Skarin Nordenvall, Giorgio Tettamanti, Emeli Ponten, Jan Albert, Rebecka Jörnsten, Claes Strannegård, Ann Nordgren
2023 -
Implementing precision medicine in a regionally organized healthcare system in
Sweden.
Thoas Fioretos, Valtteri Wirta, Lucia Cavelier, Eva Berglund, Mikaela Friedman, Michael Akhras, Johan Botling, Hans Ehrencrona, Lars Engstrand, Gisela Helenius, Therese Fagerqvist, David Gisselsson, Sofia Gruvberger-Saal, Ulf Gyllensten, Markus Heidenblad, Kina Höglund, Bo Jacobsson, Maria Johansson, Åsa Johansson, Maria Johansson Soller, Maréne Landström, Pär Larsson, Lars-Åke Levin, Anna Lindstrand, Lovisa Lovmar, Anna Lyander, Malin Melin, Ann Nordgren, Gunnel Nordmark, Paula Mölling, Lars Palmqvist, Richard Palmqvist, Dirk Repsilber, Per Sikora, Bianca Stenmark, Peter Söderkvist, Henrik Stranneheim, Tobias Strid, Craig E Wheelock, Mia Wadelius, Anna Wedell, Anders Edsjö, Richard Rosenquist
Nature medicine - 2022 -
Ecosystem Models Based on Artificial
Intelligence
Claes Strannegård, Niklas Engsner, Jesper Eisfeldt, John Endler, Amanda Hansson, Rasmus Lindgren, Petter Mostad, Simon Olsson, Irene Perini, Heather Reese, Fulya Taylan, Simon Ulfsbäcker, Ann Nordgren
Proceedings of the Swedish AI Society, SAIS-22 - 2022