Anna Lindstrand
Adjungerad Professor
| Docent
E-postadress: anna.lindstrand@ki.se
Telefon: +46852482722
Besöksadress: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Om mig
- Jag arbetar som kliniskt aktiv forskare på KI/KS och leder en forskargrupp som arbetar med translationell forskning i frontlinjen med fokus på underliggande cellulära mekanismer hos de patienter med sällsynta genetiska sjukdomar jag träffar i mitt arbete som specialistläkare i klinisk genetik. Med ny genteknik som exom- och helgenom- sekvensering kan vi snabbt kartlägga genetiken hos patienterna och identifiera misstänkta sjukdomsgener. För att stärka kopplingen mellan genetisk förändring och kliniska symtom utförs sedan funktionella studier i patientprov, cellinjer samt i zebrafisk. Våra fynd förs sedan tillbaka till vården i form av ny information om geners funktion och som genetisk rådgivning till den specifika familjen.
Forskargruppsledare för gruppen Sällsynta diagnoser, Institutionen för molekylär medicin och kirurgi
Forskningsbeskrivning
- Se den engelska sidan för mer information
Artiklar
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Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024
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Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
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Article: BMC OPHTHALMOLOGY. 2023;23(1):394
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Article: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
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Article: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
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Article: SCIENTIFIC REPORTS. 2023;13(1):6904
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Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
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Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
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Article: FRONTIERS IN GENETICS. 2023;14:1174046
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Article: PLOS ONE. 2023;18(7):e0289346
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Article: BIOMEDICINES. 2022;10(12):3171
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Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
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Article: HUMAN MUTATION. 2022;43(11):1567-1575
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Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):487-493
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Article: BLOOD ADVANCES. 2022;6(17):5009-5023
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Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392
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Article: HUMAN MUTATION. 2022;43(6):708-716
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
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Article: FRONTIERS IN GENETICS. 2022;13:839349
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Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
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Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1337-1347
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Article: LAKARTIDNINGEN. 2021;118:21015
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Article: GENETICS IN MEDICINE. 2021;23(5):888-899
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Article: HUMAN GENETICS. 2021;140(5):775-790
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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: FRONTIERS IN GENETICS. 2021;12:803683
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Article: FRONTIERS IN GENETICS. 2021;12:708348
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Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
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Article: HUMAN MUTATION. 2020;41(11):1979-1998
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Article: LAKARTIDNINGEN. 2020;117:19238
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Article: NATURE COMMUNICATIONS. 2020;11(1):4932
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Article: BMC BIOINFORMATICS. 2020;21(1):273
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151
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Article: BMC MEDICAL GENETICS. 2020;21(1):87
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Article: LAKARTIDNINGEN. 2020;117:FU7F
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Article: PLOS ONE. 2020;15(2):e0228622
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Article: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30
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Article: CLINICAL GENETICS. 2019;96(6):560-565
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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: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
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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: PLOS GENETICS. 2019;15(2):e1007858
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Article: FRONTIERS IN GENETICS. 2019;10:608
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Article: FRONTIERS IN GENETICS. 2019;10:896
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Article: PLOS GENETICS. 2018;14(11):e1007780
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Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
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Article: HUMAN MUTATION. 2018;39(10):1456-1467
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Article: HUMAN MUTATION. 2018;39(9):1161-1172
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Article: HUMAN MUTATION. 2018;39(7):939-946
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Article: HUMAN MUTATION. 2018;39(4):495-505
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Article: PLOS ONE. 2018;13(3):e0189710
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Article: PLOS ONE. 2018;13(3):e0193928
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Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
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Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
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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: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
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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 BONE AND MINERAL RESEARCH. 2017;32(4):776-783
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Article: HUMAN GENETICS. 2017;136(2):179-192
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Article: F1000RESEARCH. 2017;6:664
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(2):318-336
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
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Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
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Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
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Article: PLOS ONE. 2015;10(7):e0131883
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Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;94(5):745-754
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Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
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Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(2):357-367
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Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
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Article: CELL. 2012;150(3):533-548
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(5):1111-1117
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Article: CLINICAL GENETICS. 2010;77(6):552-562
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Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
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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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Alla övriga publikationer
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Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
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Review: TRENDS IN GENETICS. 2022;38(11):1134-1146
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Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):586
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Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):585-586
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Letter: NATURE MEDICINE. 2022;28(10):1980-1982
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Other: CLINICAL CASE REPORTS. 2022;10(6):e5989
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Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
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Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296
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Editorial comment: BASIC AND CLINICAL ANDROLOGY. 2018;28:13
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Letter: CLINICAL GENETICS. 2015;87(5):496-498
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Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(24):3217-3222
Anställningar
- Adjungerad Professor, Molekylär medicin och kirurgi, Karolinska Institutet, 2020-2024
Examina och utbildning
- Docent, Klinisk genetik, Karolinska Institutet, 2016
- Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2010
- Läkarexamen, Karolinska Institutet, 1999
Handledare
- Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases