Anna Lindstrand
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;63(5):658-663
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Article: SCIENTIFIC REPORTS. 2024;14(1):9000
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Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
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Journal article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2023;62:159
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Article: BMC OPHTHALMOLOGY. 2023;23(1):394
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
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Article: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
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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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Journal article: PATHOLOGY. 2023;55:s17
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Journal article: PATHOLOGY. 2023;55:s19
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Journal article: PATHOLOGY. 2023;55:s19-s20
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Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
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Article: PLOS ONE. 2023;18(7):e0289346
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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: 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: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254
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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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Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
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Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
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Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
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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):1337-1347
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Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
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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;12:708348
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Article: FRONTIERS IN GENETICS. 2021;12:803683
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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: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30
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Article: PLOS ONE. 2020;15(2):e0228622
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Article: CLINICAL GENETICS. 2019;96(6):560-565
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Journal article: 2019
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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: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
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Article: PLOS ONE. 2018;13(3):e0193928
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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: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
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Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
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Journal article: BONE ABSTRACTS. 2017
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Journal article: F1000RESEARCH. 2017;6:664
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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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Journal article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):454-455
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Alla övriga publikationer
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Preprint: MEDRXIV. 2024;MEDRXIV
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:606
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:603-604
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:472-473
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:539
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:689
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Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
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Preprint: RESEARCH SQUARE. 2023
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:348-349
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:646
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:48
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:576-577
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Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429Missense variant in PDK1 associated with severe developmental delay and epilepsy
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Review: CAMB PRISM PRECIS MED. 2023;1:e15
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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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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
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Conference publication: ANNALS OF NEUROLOGY. 2022;92:S171-S172
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Conference publication: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2022;63(7)
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):440
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Book chapter: XIIITH INTERNATIONAL SYMPOSIUM ON SPERMATOLOGY. 2021;p. 125
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Corrigendum: NATURE COMMUNICATIONS. 2020;11(1):5398
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Conference publication: FASEB JOURNAL. 2020;34:1
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):331-332
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):117-118
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):605-606
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):908-909
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Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
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Conference publication: MOLECULAR CYTOGENETICS. 2019;12
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1766
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138
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Conference publication: MOLECULAR CYTOGENETICS. 2019;12
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1659
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1070
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830
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Preprint: BIORXIV. 2018
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Editorial comment: BASIC AND CLINICAL ANDROLOGY. 2018;28:13
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:510-511
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:211
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Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:590-591
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Conference publication: MOLECULAR CYTOGENETICS. 2017;10
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Letter: CLINICAL GENETICS. 2015;87(5):496-498
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Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241
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Conference publication: CHROMOSOME RESEARCH. 2009;17:92
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Conference publication: CHROMOSOME RESEARCH. 2009;17:92-93
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Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(24):3217-3222
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Conference publication: CELLULAR ONCOLOGY. 2007;29(2):148
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Forskningsbidrag
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Swedish Research Council1 January 2023 - 31 December 2026
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Swedish Research Council1 January 2020 - 31 December 2025
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Swedish Research Council1 January 2019 - 31 December 2021
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Congenital skeletal disorders: identification of molecular mechanisms and clinical characterisation.Swedish Research Council1 January 2019 - 31 December 2021
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Swedish Cancer Society1 January 2018
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Swedish Research Council1 January 2018 - 31 December 2021
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Swedish Research Council1 January 2013 - 31 December 2015
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Swedish Research Council1 September 2012 - 31 August 2013
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