Ann Nordgren
Ann Nordgren
Professor, Senior Consultant Clinical genetics, Karolinska
Verified email at ki.se
TitleCited byYear
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus
S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ...
Nature 478 (7367), 97, 2011
3442011
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ...
Nature genetics 46 (4), 380, 2014
1662014
Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping
S Kytölä, J Rummukainen, A Nordgren, R Karhu, F Farnebo, J Isola, ...
Genes, Chromosomes and Cancer 28 (3), 308-317, 2000
1412000
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, B Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515, 2017
1362017
Limitations of chromosome classification by multicolor karyotyping
C Lee, D Gisselsson, C Jin, A Nordgren, DO Ferguson, E Blennow, ...
The American Journal of Human Genetics 68 (4), 1043-1047, 2001
1012001
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
M Kvarnung, D Nilsson, A Lindstrand, GC Korenke, SCC Chiang, ...
Journal of medical genetics 50 (8), 521-528, 2013
952013
Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G‐banding: Implications for treatment stratification of childhood acute lymphoblastic …
A Nordgren, M Heyman, S Sahlén, J Schoumans, S Söderhäll, ...
European journal of haematology 68 (1), 31-41, 2002
742002
Outcome of ETV6/RUNX1‐positive childhood acute lymphoblastic leukaemia in the NOPHO‐ALL‐1992 protocol: frequent late relapses but good overall survival
E Forestier, M Heyman, MK Andersen, K Autio, E Blennow, G Borgström, ...
British journal of haematology 140 (6), 665-672, 2008
702008
The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia
K Paulsson, H Lilljebjörn, A Biloglav, L Olsson, M Rissler, A Castor, ...
Nature genetics 47 (6), 672, 2015
692015
Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO‐93‐AML trial between 1993 and 2001
E Forestier, S Heim, E Blennow, G Borgström, G Holmgren, K Heinonen, ...
British journal of haematology 121 (4), 566-577, 2003
682003
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
A Bremer, MB Giacobini, M Eriksson, P Gustavsson, V Nordin, E Fernell, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011
662011
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study
P Makrythanasis, BW Van Bon, M Steehouwer, B Rodríguez‐Santiago, ...
Clinical genetics 84 (6), 539-545, 2013
622013
Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia
EF Thelander, K Ichimura, M Corcoran, G Barbany, A Nordgren, ...
Leukemia & lymphoma 49 (3), 477-487, 2008
592008
Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridization and morphology.
P Bernell, B Jacobsson, A Nordgren, R Hast
Leukemia 10 (4), 662-668, 1996
591996
Characterisation of dic (9; 20)(p11–13; q11) in childhood B‐cell precursor acute lymphoblastic leukaemia by tiling resolution array‐based comparative genomic hybridisation …
J Schoumans, B Johansson, M Corcoran, E Kuchinskaya, I Golovleva, ...
British journal of haematology 135 (4), 492-499, 2006
572006
The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
G Vandeweyer, C Helsmoortel, A Van Dijck, AT Vulto‐van Silfhout, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014
542014
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway
R Acuna-Hidalgo, D Schanze, A Kariminejad, A Nordgren, ...
The American Journal of Human Genetics 95 (3), 285-293, 2014
492014
Molecular and clinical characterization of patients with overlapping 10p deletions
A Lindstrand, H Malmgren, A Verri, E Benetti, M Eriksson, A Nordgren, ...
American journal of medical genetics Part A 152 (5), 1233-1243, 2010
482010
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
E Tham, A Lindstrand, A Santani, H Malmgren, A Nesbitt, HA Dubbs, ...
The American Journal of Human Genetics 96 (3), 507-513, 2015
472015
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations
J Davidsson, K Paulsson, D Lindgren, H Lilljebjörn, T Chaplin, E Forestier, ...
Leukemia 24 (5), 924, 2010
472010
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