The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia
Paulsson, Kajsa, Lilljebjörn, Henrik, Biloglav, Andrea, Olsson, Linda, Rissler, Marianne, Castor, Anders, Barbany, Gisela, Fogelstrand, Linda, Nordgren, Ann, Sjögren, Helene, Fioretos, Thoas, Johansson, Bertil
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
Get full text
Journal Article
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)
Get full text
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)
Get full text
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)
Get full text
Journal Article
Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
Zollino, Marcella, Zweier, Christiane, Van Balkom, Ingrid D., Sweetser, David A., Alaimo, Joseph, Bijlsma, Emilia K., Cody, Jannine, Elsea, Sarah H., Giurgea, Irina, Macchiaiolo, Marina, Smigiel, Robert, Thibert, Ronald L., Benoist, Ingrid, Clayton‐Smith, Jill, De Winter, Channa F., Deckers, Stijn, Gandhi, Anusha, Huisman, Sylvia, Kempink, Dagmar, Kruisinga, Frea, Lamacchia, Vittoria, Marangi, Giuseppe, Menke, Leonie, Mulder, Paul, Nordgren, Ann, Renieri, Alessandra, Routledge, Sue, Saunders, Carol J., Stembalska, Agnieszka, Van Balkom, Hans, Whalen, Sandra, Hennekam, Raoul C.
Published in Clinical genetics (01.04.2019)
Published in Clinical genetics (01.04.2019)
Get full text
Journal Article
Symptoms of autism in Williams syndrome: a transdiagnostic approach
Willfors, Charlotte, Borg, Jacqueline, Kleberg, Johan Lundin, Hallman, Astrid, Van Der Poll, Marcus, Lundin Remnélius, Karl, Björlin Avdic, Hanna, Bölte, Sven, Nordgren, Ann
Published in Scientific reports (30.07.2024)
Published in Scientific reports (30.07.2024)
Get full text
Journal Article
International Undiagnosed Diseases Programs (UDPs): components and outcomes
Curic, Ela, Ewans, Lisa, Pysar, Ryan, Taylan, Fulya, Botto, Lorenzo D, Nordgren, Ann, Gahl, William, Palmer, Elizabeth Emma
Published in Orphanet journal of rare diseases (09.11.2023)
Published in Orphanet journal of rare diseases (09.11.2023)
Get full text
Journal Article
Reduced effects of social feedback on learning in Turner syndrome
Björlin Avdic, Hanna, Strannegård, Claes, Engberg, Hedvig, Willfors, Charlotte, Nordgren, Ida, Frisén, Louise, Hirschberg, Angelica Lindén, Guath, Mona, Nordgren, Ann, Kleberg, Johan Lundin
Published in Scientific reports (22.09.2023)
Published in Scientific reports (22.09.2023)
Get full text
Journal Article
Whole‐Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson, Daniel, Pettersson, Maria, Gustavsson, Peter, Förster, Alisa, Hofmeister, Wolfgang, Wincent, Josephine, Zachariadis, Vasilios, Anderlid, Britt‐Marie, Nordgren, Ann, Mäkitie, Outi, Wirta, Valtteri, Käller, Max, Vezzi, Francesco, Lupski, James R, Nordenskjöld, Magnus, Syk Lundberg, Elisabeth, Carvalho, Claudia M. B., Lindstrand, Anna
Published in Human mutation (01.02.2017)
Published in Human mutation (01.02.2017)
Get full text
Journal Article
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen, Lusine, Eisfeldt, Jesper, Pettersson, Maria, Lundin, Johanna, Nilsson, Daniel, Wincent, Josephine, Lieden, Agne, Lovmar, Lovisa, Ottosson, Jesper, Gacic, Jelena, Mäkitie, Outi, Nordgren, Ann, Vezzi, Francesco, Wirta, Valtteri, Käller, Max, Hjortshøj, Tina Duelund, Jespersgaard, Cathrine, Houssari, Rayan, Pignata, Laura, Bak, Mads, Tommerup, Niels, Lundberg, Elisabeth Syk, Tümer, Zeynep, Lindstrand, Anna
Published in PLoS genetics (12.11.2018)
Published in PLoS genetics (12.11.2018)
Get full text
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)
Get full text
Journal Article
Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Smith, Michael, Alexander, Elizabeth, Marcinkute, Ruta, Dan, Dorica, Rawson, Myfanwy, Banka, Siddharth, Gavin, Jason, Mina, Hany, Hennessy, Con, Riccardi, Florence, Radio, Francesca Clementina, Havlovicova, Marketa, Cassina, Matteo, Emandi, Adela Chirita, Fradin, Melanie, Gompertz, Lianne, Nordgren, Ann, Traberg, Rasa, Rossi, Massimiliano, Trimouille, Aurelién, Sowmyalakshmi, Rasika, Dallapiccola, Bruno, Renieri, Alessandra, Faivre, Laurence, Kerr, Bronwyn, Verloes, Alain, Clayton-Smith, Jill, Douzgou, Sofia
Published in Orphanet journal of rare diseases (25.04.2020)
Published in Orphanet journal of rare diseases (25.04.2020)
Get full text
Journal Article
Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability
Kvarnung, Malin, Taylan, Fulya, Nilsson, Daniel, Anderlid, Britt‐Marie, Malmgren, Helena, Lagerstedt‐Robinson, Kristina, Holmberg, Eva, Burstedt, Magnus, Nordenskjöld, Magnus, Nordgren, Ann, Lundberg, Elisabeth S.
Published in Clinical genetics (01.12.2018)
Published in Clinical genetics (01.12.2018)
Get full text
Journal Article
Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
Nag, Heidi Elisabeth, Nordgren, Ann, Anderlid, Britt-Marie, Nærland, Terje
Published in Molecular autism (08.01.2018)
Published in Molecular autism (08.01.2018)
Get full text
Journal Article
High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing
Tran, Anh Nhi, Taylan, Fulya, Zachariadis, Vasilios, Ivanov Öfverholm, Ingegerd, Lindstrand, Anna, Vezzi, Francesco, Lötstedt, Britta, Nordenskjöld, Magnus, Nordgren, Ann, Nilsson, Daniel, Barbany, Gisela
Published in PloS one (12.03.2018)
Published in PloS one (12.03.2018)
Get full text
Journal Article
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International
Palmer, Elizabeth Emma, Cederroth, Helene, Cederroth, Mikk, Delgado-Vega, Angelica Maria, Roberts, Natalie, Taylan, Fulya, Nordgren, Ann, Botto, Lorenzo D.
Published in Npj genomic medicine (05.07.2024)
Published in Npj genomic medicine (05.07.2024)
Get full text
Journal Article