Ann Nordgren
Ann Nordgren
Professor, Senior Consultant Clinical genetics, Karolinska
Verified email at
Cited by
Cited by
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), 97-102, 2011
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ...
Nature genetics 49 (4), 515-526, 2017
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), 380-384, 2014
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), 672-676, 2015
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
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
MR Geisheker, G Heymann, T Wang, BP Coe, TN Turner, HAF Stessman, ...
Nature neuroscience 20 (8), 1043-1051, 2017
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
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
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
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
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
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ...
American journal of medical genetics Part A 170 (12), 3069-3082, 2016
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
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement
I Kapferer-Seebacher, M Pepin, R Werner, TJ Aitman, A Nordgren, ...
The American Journal of Human Genetics 99 (5), 1005-1014, 2016
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
CW Ockeloen, MH Willemsen, S De Munnik, BWM Van Bon, N De Leeuw, ...
European Journal of Human Genetics 23 (9), 1176-1185, 2015
Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
A Van Dijck, AT Vulto-van Silfhout, E Cappuyns, IM van der Werf, ...
Biological psychiatry 85 (4), 287-297, 2019
De novo loss-of-function mutations in USP9X cause a female-specific recognizable syndrome with developmental delay and congenital malformations
MRF Reijnders, V Zachariadis, B Latour, L Jolly, GM Mancini, R Pfundt, ...
The American Journal of Human Genetics 98 (2), 373-381, 2016
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
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
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
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