Ann Nordgren
Adjunct Professor
| Docent
E-mail: ann.nordgren@ki.se
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
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(3):333-341
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Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
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Article: NPJ PRECISION ONCOLOGY. 2023;7(1):131
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Article: NPJ GENOMIC MEDICINE. 2023;8(1):39
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Article: SCIENTIFIC REPORTS. 2023;13(1):18397
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Article: SCIENTIFIC REPORTS. 2023;13(1):15858
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Article: GENETICS IN MEDICINE. 2023;25(8):100856
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Article: JAMA NETWORK OPEN. 2023;6(7):e2325482
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Article: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS. 2023;53(7):2786-2797
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Article: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
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Article: JCO PRECISION ONCOLOGY. 2023;7:e2300039
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Article: COGNITIVE NEUROPSYCHIATRY. 2023;28(3):207-225
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Article: SCIENTIFIC REPORTS. 2023;13(1):6904
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Article: SCIENTIFIC REPORTS. 2023;13(1):164
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Article: FRONTIERS IN MEDICINE. 2023;10:1172565
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Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
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Article: BLOOD ADVANCES. 2022;6(7):2275-2289
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
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Article: NPJ GENOMIC MEDICINE. 2022;7(1):11
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Article: JOURNAL OF MEDICAL GENETICS. 2022;59(2):141-146
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Article: FRONTIERS IN MOLECULAR NEUROSCIENCE. 2022;15:988993
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Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:862908
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Article: JOURNAL OF PEDIATRICS. 2021;239:200-205.e2
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Article: ORPHANET JOURNAL OF RARE DISEASES. 2021;16(1):472
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Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
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Article: LAKARTIDNINGEN. 2021;118:21015
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Article: GENOME MEDICINE. 2021;13(1):63
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Article: GENOME MEDICINE. 2021;13(1):40
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(2):517-527
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Article: NEUROLOGY-GENETICS. 2020;6(6):e526
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Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
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Article: NATURE COMMUNICATIONS. 2020;11(1):4932
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Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2020;117(33):20127-20138
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1177-1189
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Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):103
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Article: CELL DEATH & DISEASE. 2020;11(4):238
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Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):80
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Article: LEUKEMIA & LYMPHOMA. 2020;61(3):604-613
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(2):e1084
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Article: CELL DEATH & DISEASE. 2020;11(1):52
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(1):e1013
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Article: BLOOD ADVANCES. 2019;3(18):2722-2731
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Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
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Article: CLINICAL GENETICS. 2019;96(2):118-125
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Article: NATURE MEDICINE. 2019;25(4):583-590
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
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Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
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Article: FRONTIERS IN GENETICS. 2019;10:896
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Article: CLINICAL EPIDEMIOLOGY. 2019;11:793-800
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Article: CLINICAL GENETICS. 2018;94(6):528-537
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Article: PLOS GENETICS. 2018;14(11):e1007780
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2018;103(4):553-567
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Article: HUMAN MUTATION. 2018;39(10):1456-1467
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Article: TWIN RESEARCH AND HUMAN GENETICS. 2018;21(1):1-11
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Article: PLOS ONE. 2018;13(3):e0193928
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Article: MOLECULAR AUTISM. 2018;9:1
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Article: SCIENTIFIC REPORTS. 2017;7(1):15585
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Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
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Article: GENETICS IN MEDICINE. 2017;19(8):900-908
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399
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Article: NATURE GENETICS. 2017;49(4):515-526
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Article: JOURNAL OF HUMAN GENETICS. 2017;62(4):503-506
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Article: HUMAN GENETICS. 2017;136(2):179-192
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Article: TRANSLATIONAL PSYCHIATRY. 2017;7(1):e1014
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Article: CELL BIOLOGY AND TRANSLATIONAL MEDICINE, VOL 14: STEM CELLS IN LINEAGE SPECIFIC DIFFERENTIATION AND DISEASE. 2017;1031:39-54
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Article: CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH. 2017;11:57
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170(12):3069-3082
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
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Article: LEUKEMIA & LYMPHOMA. 2016;57(9):2161-2170
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Article: CANCER EPIDEMIOLOGY. 2016;41:57-62
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):363-372
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;98(2):373-381
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
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Article: NEUROLOGY-GENETICS. 2016;2(1):e49
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2016;4(1):39-45
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Article: CLINICAL GENETICS. 2016;89(1):99-103
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2015;170(6):847-858
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2015;23(9):1176-1185
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Article: NATURE GENETICS. 2015;47(6):672-676
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
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Article: CLINICAL GENETICS. 2015;87(3):273-278
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Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2015;58(3):129-133
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Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;83(5):361-364
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Article: CLINICAL EPIGENETICS. 2015;7(1):11
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;95(3):285-293
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 2014;166C(3):315-326
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(7):1635-1641
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Article: TWIN RESEARCH AND HUMAN GENETICS. 2014;17(3):164-176
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Article: JOURNAL OF HEMATOLOGY & ONCOLOGY. 2014;7:32
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Article: NATURE GENETICS. 2014;46(4):380-384
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014;164A(2):425-431
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Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
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Article: PLOS ONE. 2014;9(1):e85313
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Article: CLINICAL GENETICS. 2013;84(6):539-545
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(10):2554-2558
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2013;21(10):1085-1092
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Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013;161A(6):1284-1290
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Article: HUMAN MUTATION. 2012;33(7):1063-1066
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Article: GENES CHROMOSOMES & CANCER. 2012;51(2):196-206
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;155(2):235-243
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Article: NATURE. 2011;478(7367):97-U111
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2011;156(2):115-124
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;152(5):615-622
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Article: CURRENT GENOMICS. 2010;11(6):409-419
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(9):2277-2286
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(5):1233-1243
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Article: CLINICAL GENETICS. 2010;77(2):145-154
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Article: GENES CHROMOSOMES & CANCER. 2009;48(9):795-805
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Article: HAEMATOLOGICA. 2009;94(9):1301-1306
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Article: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2009;31(9):696-701
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009;149A(8):1706-1711
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Article: PEDIATRIC HEMATOLOGY AND ONCOLOGY. 2009;26(1):48-56
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Article: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2009;47(12):1467-1469
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Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2008;81(3):218-225
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Article: LEUKEMIA & LYMPHOMA. 2008;49(3):477-487
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(5):572-577
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2008;140(6):665-672
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Article: BRITISH JOURNAL OF CANCER. 2007;97(7):992-994
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Article: HUMAN MOLECULAR GENETICS. 2007;16(14):1773-1782
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2007;15(2):143-149
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2006;135(4):492-499
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Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2005;74(6):466-480
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(2):260-263
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2003;121(4):566-577
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Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2002;68(1):31-41
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Article: BRITISH JOURNAL OF HAEMATOLOGY. 2001;114(4):786-793
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Article: EUROPEAN JOURNAL OF HAEMATOLOGY. 2001;66(5):297-304
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2001;68(4):1043-1047
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Article: GENES CHROMOSOMES & CANCER. 2000;28(3):308-317
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Article: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 2000;5(5):485-492
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Article: HEMATOLOGY JOURNAL. 2000;1(2):95-101
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 1997;73(3):351-355
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Article: LEUKEMIA. 1996;10(4):662-668
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All other publications
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Review: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):348
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Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
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Letter: NATURE MEDICINE. 2022;28(10):1980-1982
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Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
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Editorial comment: NATURE GENETICS. 2020;52(1):21-26
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Editorial comment: STEM CELL RESEARCH. 2019;39:101518
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Review: CLINICAL GENETICS. 2019;95(4):462-478
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Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2019;185(2):354-357
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Letter: CLINICAL CHEMISTRY. 2019;65(2):345-347
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Other: CLINICAL CASE REPORTS. 2018;6(11):2103-2110
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Review: LAKARTIDNINGEN. 2017;114:ELYP
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Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2016;170A(1):266-269
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Letter: HAEMATOLOGICA. 2016;101(1):e20-e23
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Letter: CLINICAL GENETICS. 2015;87(5):496-498
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Letter: LEUKEMIA & LYMPHOMA. 2013;54(12):2742-2744
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Letter: LEUKEMIA. 2013;27(9):1936-1939
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Letter: BRITISH JOURNAL OF HAEMATOLOGY. 2012;159(4):488-491
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Review: LAKARTIDNINGEN. 2010;107(17):1144-1149
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Review: EUROPEAN JOURNAL OF HAEMATOLOGY. 2010;84(1):17-25
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Letter: LEUKEMIA. 2009;23(1):209-212
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Review: GENES CHROMOSOMES & CANCER. 2008;47(2):149-158
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Review: GENES CHROMOSOMES & CANCER. 2007;46(5):440-450
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Review: LEUKEMIA & LYMPHOMA. 2003;44(12):2039-2053
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Meeting abstract: PEDIATRIC RESEARCH. 1999;45(4):144A
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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
- Emeli Pontén, 2018
- Benedicte Bang
- Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases