Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Published in Nature medicine (01.04.2019)
Published in Nature medicine (01.04.2019)
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Journal Article
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Chen, Yin-Huai, Grigelioniene, Giedre, Newton, Phillip T, Gullander, Jacob, Elfving, Maria, Hammarsjö, Anna, Batkovskyte, Dominyka, Alsaif, Hessa S, Kurdi, Wesam I Y, Abdulwahab, Firdous, Shanmugasundaram, Veerabahu, Devey, Luke, Bacrot, Séverine, Brodszki, Jana, Huber, Celine, Hamel, Ben, Gisselsson, David, Papadogiannakis, Nikos, Jedrycha, Katarina, Gürtl-Lackner, Barbara, Chagin, Andrei S, Nishimura, Gen, Aschenbrenner, Dominik, Alkuraya, Fowzan S, Laurence, Arian, Cormier-Daire, Valérie, Uhlig, Holm H
Published in The Journal of experimental medicine (02.03.2020)
Published in The Journal of experimental medicine (02.03.2020)
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Journal Article
Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
Leal, Gabriela Ferraz, Nishimura, Gen, Voss, Ulrika, Bertola, Débora Romeo, Åström, Eva, Svensson, Johan, Yamamoto, Guilherme Lopes, Hammarsjö, Anna, Horemuzova, Eva, Papadogiannakis, Nikos, Iwarsson, Erik, Grigelioniene, Giedre, Tham, Emma
Published in Journal of bone and mineral research (01.04.2018)
Published in Journal of bone and mineral research (01.04.2018)
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Journal Article
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Garza Flores, Alexandra, Nordgren, Ida, Pettersson, Maria, Dias-Santagata, Dora, Nilsson, Daniel, Hammarsjö, Anna, Lindstrand, Anna, Batkovskyte, Dominyka, Wiggs, Janey, Walton, David S, Goldenberg, Paula, Eisfeldt, Jesper, Lin, Angela E, Lachman, Ralph S, Nishimura, Gen, Grigelioniene, Giedre
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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Journal Article
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
Ek, Marlene, Nilsson, Daniel, Engvall, Martin, Malmgren, Helena, Thonberg, Håkan, Pettersson, Maria, Anderlid, Britt-Marie, Hammarsjö, Anna, Helgadottir, Hafdis T, Arnardottir, Snjolaug, Naess, Karin, Nennesmo, Inger, Paucar, Martin, Hjartarson, Helgi Thor, Press, Rayomand, Solders, Göran, Sejersen, Thomas, Lindstrand, Anna, Kvarnung, Malin
Published in Frontiers in neurology (2023)
Published in Frontiers in neurology (2023)
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Journal Article
Case Report: Whole genome sequencing identifies CCDC88C as a novel JAK2 fusion partner in pediatric T-cell acute lymphoblastic leukemia
Krstic, Aleksandra, Rezayee, Fatemah, Saft, Leonie, Hammarsjö, Anna, Svenberg, Petter, Barbany, Gisela
Published in Frontiers in pediatrics (10.01.2023)
Published in Frontiers in pediatrics (10.01.2023)
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Journal Article
Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Jacob, Prince, Lindelöf, Hillevi, Rustad, Cecilie F., Sutton, Vernon Reid, Moosa, Shahida, Udupa, Prajna, Hammarsjö, Anna, Bhavani, Gandham SriLakshmi, Batkovskyte, Dominyka, Tveten, Kristian, Dalal, Ashwin, Horemuzova, Eva, Nordgren, Ann, Tham, Emma, Shah, Hitesh, Merckoll, Else, Orellana, Laura, Nishimura, Gen, Girisha, Katta M., Grigelioniene, Giedre
Published in Npj genomic medicine (22.11.2023)
Published in Npj genomic medicine (22.11.2023)
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Journal Article
Skeletal ciliopathies: a pattern recognition approach
Handa, Atsuhiko, Voss, Ulrika, Hammarsjö, Anna, Grigelioniene, Giedre, Nishimura, Gen
Published in Japanese journal of radiology (01.03.2020)
Published in Japanese journal of radiology (01.03.2020)
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Journal Article
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders
Runheim, Hannes, Pettersson, Maria, Hammarsjö, Anna, Nordgren, Ann, Henriksson, Martin, Lindstrand, Anna, Levin, Lars-Åke, Soller, Maria Johansson
Published in Scientific reports (27.04.2023)
Published in Scientific reports (27.04.2023)
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Journal Article
Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome
Batkovskyte, Dominyka, Komatsu, Maya, Hammarsjö, Anna, Pooh, Ritsuko, Shimokawa, Osamu, Ikegawa, Shiro, Grigelioniene, Giedre, Nishimura, Gen, Yamada, Takahiro
Published in Clinical genetics (01.01.2024)
Published in Clinical genetics (01.01.2024)
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Journal Article
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability
Lindstrand, Anna, Eisfeldt, Jesper, Pettersson, Maria, Carvalho, Claudia M B, Kvarnung, Malin, Grigelioniene, Giedre, Anderlid, Britt-Marie, Bjerin, Olof, Gustavsson, Peter, Hammarsjö, Anna, Georgii-Hemming, Patrik, Iwarsson, Erik, Johansson-Soller, Maria, Lagerstedt-Robinson, Kristina, Lieden, Agne, Magnusson, Måns, Martin, Marcel, Malmgren, Helena, Nordenskjöld, Magnus, Norling, Ameli, Sahlin, Ellika, Stranneheim, Henrik, Tham, Emma, Wincent, Josephine, Ygberg, Sofia, Wedell, Anna, Wirta, Valtteri, Nordgren, Ann, Lundin, Johanna, Nilsson, Daniel
Published in Genome medicine (07.11.2019)
Published in Genome medicine (07.11.2019)
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Journal Article
Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up
Lindelöf, Hillevi, Horemuzova, Eva, Voss, Ulrika, Nordgren, Ann, Grigelioniene, Giedre, Hammarsjö, Anna
Published in Frontiers in endocrinology (Lausanne) (13.06.2022)
Published in Frontiers in endocrinology (Lausanne) (13.06.2022)
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Journal Article
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Batkovskyte, Dominyka, Swolin-Eide, Diana, Hammarsjö, Anna, Sæther, Kristine Bilgrav, Thunström, Sofia, Lundin, Johanna, Eisfeldt, Jesper, Lindstrand, Anna, Nordgren, Ann, Åström, Eva, Grigelioniene, Giedre
Published in American journal of medical genetics. Part A (08.11.2024)
Published in American journal of medical genetics. Part A (08.11.2024)
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Journal Article
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect
Gregersen, Pernille Axél, Hammarsjö, Anna, Graversen, Lise, Brix, Nis, Lindelöf, Hillevi, Jensen, Uffe Birk, Farholt, Stense, Rubak, Sune, Bjerre, Jesper, Piticchio, Serena G, Terkelsen, Thorkild, Nishimura, Gen, Hellfritzsch, Michel Bach, Grigelioniene, Giedre
Published in Clinical genetics (06.09.2024)
Published in Clinical genetics (06.09.2024)
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Journal Article
Vitamin D Induces the Antimicrobial Protein hCAP18 in Human Skin
Weber, Günther, Heilborn, Johan D., Chamorro Jimenez, Clara I., Hammarsjö, Anna, Törmä, Hans, Ståhle, Mona
Published in Journal of investigative dermatology (01.05.2005)
Published in Journal of investigative dermatology (01.05.2005)
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Journal Article
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M, Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E, Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S, Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, Grigelioniene, Giedre
Published in Journal of human genetics (01.10.2021)
Published in Journal of human genetics (01.10.2021)
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Journal Article
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
Young, Cameron, Batkovskyte, Dominyka, Kitamura, Miyuki, Shvedova, Maria, Mihara, Yutaro, Akiba, Jun, Zhou, Wen, Hammarsjö, Anna, Nishimura, Gen, Yatsuga, Shuichi, Grigelioniene, Giedre, Kobayashi, Tatsuya
Published in HGG advances (12.01.2023)
Published in HGG advances (12.01.2023)
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Journal Article
Alu‐Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Pettersson, Maria, Vaz, Raquel, Hammarsjö, Anna, Eisfeldt, Jesper, Carvalho, Claudia M.B., Hofmeister, Wolfgang, Tham, Emma, Horemuzova, Eva, Voss, Ulrika, Nishimura, Gen, Klintberg, Bo, Nordgren, Ann, Nilsson, Daniel, Grigelioniene, Giedre, Lindstrand, Anna
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
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Journal Article
GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment
Engman, Mikael, Varghese, Suby, Lagerstedt Robinson, Kristina, Malmgren, Helena, Hammarsjö, Anna, Byström, Birgitta, Lalitkumar, Parameswaran Grace L, Gemzell-Danielsson, Kristina
Published in PloS one (04.12.2013)
Published in PloS one (04.12.2013)
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