Ann Nordgren
Adjunct Professor | Docent
E-mail: ann.nordgren@ki.se
Telephone: +46852486509
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
About me
- Ann Nordgren presently serve as Adjunct Professor of Clinical Genetics at
Karolinska Institutet and senior consultant and Project Manager at the
Karolinska Center for Rare Diseases (KCRD) at Clinical genetics, Karolinska
University hospital. Currently, Ann Nordgren is a Swedish board certified
specialist in Clinical Genetics since 2002. Her clinical work is mainly
focused on genetic counceling, syndrome diagnostics and childhood cancer
diagnostics using detailed phenotyping as well as molecular, cytogenetic and
massive parallell sequencing techniques. In 2012 Ann Nordgren started a
clinical and research multidisciplinary expert team for syndrome
diagnostics. and this team is now going to be part of the
international Undiagnosed Diseases Program (UDP). She is also leading a
national collaborative work to create a national quality registry for rare
diseases. Ann Nordgren has a 6-year research position financed by the
Swedish Childhood Cancer foundation.
Her position as researcher and project leader of KCRD has led to fruitful
collaborations with patients, patient organisations, politicians, European
Commission, The National Board of Health and Welfare, healthcare
professionals, orphan drug industry. She is a board member of Ågrenska and
a deputie in the Nordic Network for Rare Diseases, commissioned by the Nordic
Council as well as board member of Ågrenska AB, Sällsyntafonden, the
Swedish Pediatric Genetics Association, and the International Conference of
Rare Diseases and Orphan Drugs (ICORD). She is also a member of the IRDIRC
Diagnostics Scientific Committee and member of the Undiagnosed Diseases
Network (UDNI), member of the research grant prioritization committee at The
Swedish Cancer Society and the Swedish coordinator of a European Reference
Network (ERN) for Congenital malformations and Intellectual Disability as
well as national coordinator for the Nordic childhood cancer etiology
group.
Research
- Her research is directed at identifying novel human disease genes, especially
genes that predispose to rare intellectual disability and malformation
syndromes, overgrowth and cancer. She studies clinical phenotypes in
different syndromes and looks for constitutional genetic aberrations in
patients with syndromes and cancer and in families with more than one
affected first or second degree relative who developed cancer in childhood.
She performs genetic studies as well as careful clinical phenotyping and
registry-based studies. This approach has been very rewarding and in her
recent activity her research team has identified a number of novel syndromes
and disease-causing genes
Articles
- Article: NATURE GENETICS. 2024;56(11):2287-2294
- Journal article: COGNITIVE SYSTEMS RESEARCH. 2024;86:101235
- Article: THE LANCET REGIONAL HEALTH. EUROPE. 2024;39:100881
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(3):333-341
- Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
- Article: NPJ PRECISION ONCOLOGY. 2023;7(1):131
- Article: NPJ GENOMIC MEDICINE. 2023;8(1):39
- Article: SCIENTIFIC REPORTS. 2023;13(1):18397
- Article: SCIENTIFIC REPORTS. 2023;13(1):15858
- Article: GENETICS IN MEDICINE. 2023;25(8):100856
- Article: JAMA NETWORK OPEN. 2023;6(7):e2325482
- Article: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS. 2023;53(7):2786-2797
- Article: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
- Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039
- Article: COGNITIVE NEUROPSYCHIATRY. 2023;28(3):207-225
- Article: SCIENTIFIC REPORTS. 2023;13(1):6904
- Journal article: JU OPEN PLUS. 2023;1(3)
- Article: JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY. 2023;29(3):306-315
- Journal article: PATHOLOGY. 2023;55:s19-s20
- Article: SCIENTIFIC REPORTS. 2023;13(1):164
- Article: FRONTIERS IN MEDICINE. 2023;10:1172565
- Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
- Article: BLOOD ADVANCES. 2022;6(7):2275-2289
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
- Article: NPJ GENOMIC MEDICINE. 2022;7(1):11
- Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
- Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
- Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908
- Article: FRONTIERS IN MOLECULAR NEUROSCIENCE. 2022;15:988993
- Article: JOURNAL OF PEDIATRICS. 2021;239:200-205.e2
- Article: ORPHANET JOURNAL OF RARE DISEASES. 2021;16(1):472
- Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
- Article: LAKARTIDNINGEN. 2021;118:21015
- Article: GENOME MEDICINE. 2021;13(1):63
- Article: GENOME MEDICINE. 2021;13(1):40
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2021;185(2):517-527
- Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
- Article: NEUROLOGY: GENETICS. 2020;6(6):e526
- Article: NATURE COMMUNICATIONS. 2020;11(1):4932
- Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2020;117(33):20127-20138
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2020;182(5):1177-1189
- Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):103
- Article: CELL DEATH AND DISEASE. 2020;11(4):238
- Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):80
- Article: LEUKEMIA AND LYMPHOMA. 2020;61(3):604-613
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084
- Article: CELL DEATH AND DISEASE. 2020;11(1):52
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(1):e1013
- Article: BLOOD ADVANCES. 2019;3(18):2722-2731
- Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
- Article: CLINICAL GENETICS. 2019;96(2):118-125
- Article: NATURE MEDICINE. 2019;25(4):583-590
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
- Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
- Article: FRONTIERS IN GENETICS. 2019;10:896
- Article: CLINICAL EPIDEMIOLOGY. 2019;11:793-800
- Article: CLINICAL GENETICS. 2018;94(6):528-537
- Journal article: CLINICAL CASE REPORTS. 2018;6(11):2103-2110
- Article: PLOS GENETICS. 2018;14(11):e1007780
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567
- Article: HUMAN MUTATION. 2018;39(10):1456-1467
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2018;21(1):1-11
- Article: PLOS ONE. 2018;13(3):e0193928
- Article: MOLECULAR AUTISM. 2018;9:1
- Article: SCIENTIFIC REPORTS. 2017;7(1):15585
- Article: GENETICS IN MEDICINE. 2017;19(8):900-908
- Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(5):1396-1399
- Article: NATURE GENETICS. 2017;49(4):515-526
- Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506
- Article: HUMAN GENETICS. 2017;136(2):179-192
- Article: TRANSLATIONAL PSYCHIATRY. 2017;7(1):e1014
- Article: CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH. 2017;11:57
- Article: ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY. 2017;1031:39-54
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(12):3069-3082
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
- Article: LEUKEMIA AND LYMPHOMA. 2016;57(9):2161-2170
- Article: CANCER EPIDEMIOLOGY. 2016;41:57-62
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):363-372
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):373-381
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
- Article: NEUROLOGY: GENETICS. 2016;2(1):e49
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
- Article: CLINICAL GENETICS. 2016;89(1):99-103
- Journal article: JAMA PSYCHIATRY. 2016;73(1):20-30
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2015;170(6):847-858
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185
- Article: NATURE GENETICS. 2015;47(6):672-676
- Journal article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(5):784-796
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
- Article: CLINICAL GENETICS. 2015;87(3):273-278
- Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133
- Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;83(5):361-364
- Article: CLINICAL EPIGENETICS. 2015;7(1):11
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART C: SEMINARS IN MEDICAL GENETICS. 2014;166(3):315-326
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(7):1635-1641
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2014;17(3):164-176
- Article: JOURNAL OF HEMATOLOGY AND ONCOLOGY. 2014;7:32
- Article: NATURE GENETICS. 2014;46(4):380-384
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(2):425-431
- Article: PLOS ONE. 2014;9(1):e85313
- Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
- Article: CLINICAL GENETICS. 2013;84(6):539-545
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161(10):2554-2558
- Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1284-1290
- Article: HUMAN MUTATION. 2012;33(7):1063-1066
- Article: GENES CHROMOSOMES AND CANCER. 2012;51(2):196-206
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;155(2):235-243
- Article: NATURE. 2011;478(7367):97-U111
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(5):615-622
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART B: NEUROPSYCHIATRIC GENETICS. 2011;156B(2):115-124
- Article: CURRENT GENOMICS. 2010;11(6):409-419
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(9):2277-2286
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2010;152A(5):1233-1243
- Article: CLINICAL GENETICS. 2010;77(2):145-154
- Article: HAEMATOLOGICA. 2009;94(9):1301-1306
- Article: GENES CHROMOSOMES AND CANCER. 2009;48(9):795-805
- Article: JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY. 2009;31(9):696-701
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2009;149A(8):1706-1711
- Article: PEDIATRIC HEMATOLOGY AND ONCOLOGY. 2009;26(1):48-56
- Article: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2009;47(12):1467-1469
- Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2008;81(3):218-225
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(5):572-577
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(6):665-672
- Article: LEUKEMIA AND LYMPHOMA. 2008;49(3):477-487
- Article: BRITISH JOURNAL OF CANCER. 2007;97(7):992-994
- Article: HUMAN MOLECULAR GENETICS. 2007;16(14):1773-1782
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2006;135(4):492-499
- Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):447-448
- Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2005;74(6):466-480
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(2):260-263
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2003;121(4):566-577
- Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2002;68(1):31-41
- Article: BRITISH JOURNAL OF HAEMATOLOGY. 2001;114(4):786-793
- Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2001;66(5):297-304
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;68(4):1043-1047
- Article: GENES CHROMOSOMES AND CANCER. 2000;28(3):308-317
- Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2000;5(5):485-492
- Article: HEMATOLOGY JOURNAL. 2000;1(2):95-101
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 1997;73(3):351-355
- Article: LEUKEMIA. 1996;10(4):662-668
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All other publications
- Preprint: MEDRXIV. 2024;MEDRXIV
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:528-529
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:545-546
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:52
- Review: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):348
- Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
- Preprint: PSYARXIV. 2023
- Preprint: MEDRXIV. 2023
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:524-525
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:326-327
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:395-396
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:512-513
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
- Letter: NATURE MEDICINE. 2022;28(10):1980-1982
- Conference publication: 2022;00:1-9
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):558-559
- Conference publication: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2021;65(9):811
- Preprint: PSYARXIV. 2020
- Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):462-463
- Editorial comment: NATURE GENETICS. 2020;52(1):21-26
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
- Conference publication: 2019
- Editorial comment: STEM CELL RESEARCH. 2019;39:101518
- Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357
- Review: CLINICAL GENETICS. 2019;95(4):462-478
- Letter: CLINICAL CHEMISTRY. 2019;65(2):345-347
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
- Conference publication: MOLECULAR CYTOGENETICS. 2019;12
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:548-549
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:644-645
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
- Preprint: BIORXIV. 2017
- Review: LAKARTIDNINGEN. 2017;114:ELYP
- Corrigendum: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(3):367
- Letter: HAEMATOLOGICA. 2016;101(1):e20-e23
- Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2016;170(1):266-269
- Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1270
- Letter: CLINICAL GENETICS. 2015;87(5):496-498
- Conference publication: BLOOD. 2014;124(21):1085
- Conference publication: BLOOD. 2014;124(21):490
- Conference publication: HAEMATOLOGICA. 2014;99:9
- Letter: LEUKEMIA AND LYMPHOMA. 2013;54(12):2742-2744
- Letter: LEUKEMIA. 2013;27(9):1936-1939
- Conference publication: CHROMOSOME RESEARCH. 2013;21:S16
- Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491
- Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
- Review: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;84(1):17-25
- Conference publication: CHROMOSOME RESEARCH. 2009;17:80-81
- Letter: LEUKEMIA. 2009;23(1):209-212
- Review: GENES CHROMOSOMES AND CANCER. 2008;47(2):149-158
- Review: GENES CHROMOSOMES AND CANCER. 2007;46(5):440-450
- Conference publication: CELLULAR ONCOLOGY (DORDRECHT). 2007;29(2):118-119
- Review: LEUKEMIA AND LYMPHOMA. 2003;44(12):2039-2053
- Thesis / dissertation: 2001
- Meeting abstract: PEDIATRIC RESEARCH. 1999;45(4):144A
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Grants
- Swedish Research Council1 January 2024 - 31 December 2026
- Swedish Research Council1 December 2021 - 31 December 2025
- Swedish Research Council1 January 2021 - 31 December 2023
- Constitutional genetic aberrations behind childhood cancer predispositionSwedish Cancer Society1 January 2019
- Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.Swedish Research Council1 January 2019 - 31 December 2021
- Swedish Research Council1 January 2019 - 31 December 2021
- Barncancerfonden1 January 2019 - 31 December 2019
- The importance of innate genetic factors for childhood cancerSwedish Cancer Society1 January 2017
- Swedish Research Council1 January 2016 - 31 December 2018
- Swedish Research Council1 January 2012 - 31 December 2014
Employments
- Adjunct Professor, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2019-2027
Degrees and Education
- Docent, Karolinska Institutet, 2010
- Doctor Of Philosophy, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2001
Supervisor
- Hillevi Lindelöf, 2020
- Emeli Pontén, 2018
- Emelie Ponten, 2017
- Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved, https://openarchive.ki.se/articles/thesis/Genetic_studies_of_rare_skeletal_disorders_to_solve_the_unsolved/26903353?file=48945721
- Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis, https://openarchive.ki.se/articles/thesis/Genetic_causes_and_underlying_disease_mechanisms_in_early-onset_osteoporosis/26919550?file=48964903
- Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
- Carolina Maya Gonzalez
- Benedicte Bang
- Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases