̽ѡ

Anna Lindstrand

Anna Lindstrand

Adjungerad Professor
E-postadress: anna.lindstrand@ki.se
Telefon: +46852482722
ö: ̽ѡ, 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. Mitt huvudområde är studier av strukturella varianter, hur de uppstår och hur de orsakara sällsynta sjukdomar och blodcancer.  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 inducerade stamceller. 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

  • Article: CELL. 2025;:S0092-8674(25)01029-3
    Hansen JN; Sun H; Kahnert K; Westenius E; Johannesson A; Villegas C; Le T; Tzavlaki K; Winsnes C; Pohjanen E; Mäkiniemi A; Fall J; Ballllosera Navarro F; Bäckström A; Lindskog C; Johansson F; von Feilitzen K; Delgado-Vega AM; Martinez Casals A; Mahdessian D; Uhlén M; Sheu S-H; Lindstrand A; Axelsson U; Lundberg E
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2025;112(8):1769-1777
    Lerner-Ellis JP; Price EM; Subhani S; Boughtwood T; Brion M-J; Rendon A; Cividanes L; Gemmer J; Ciofani D; Bertin N; Wee SS; Robertson S; Baz B; Crameri K; Osterle S; Wirta V; Sikora P; Lindstrand A; Nowak F; Amado I; Mulder NJ; Ganna A; Goodhand P; Smith LD; Marshall CR; Zawati M; Ferretti V; Michaud JL; Bulman D; Bernier F; Boycott KM
  • Article: EPILEPSIA. 2025;66(8):2966-2979
    Henry OJ; Ygberg S; Barbaro M; Lesko N; Karlsson L; Pena-Perez L; Bavner A; Tohonen V; Lindstrand A; Stodberg T; Wedell A
  • Article: CLINICAL GENETICS. 2025;108(2):199-205
    Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
  • Article: FRONTIERS IN GENETICS. 2025;16:1580879
    Malmgren H; Kvarnung M; Gustafsson P; Anderlid B-M; Arthur C; Carlsten J; De Geer K; Ehn E; Grigelioniene G; Hammarsjo A; Helgadottir HT; Hellstrom-Pigg M; Iwarsson E; Kuchinskaya E; Lindelof H; Mannila M; Nilsson D; Pettersson M; Rudd E; Sahlin E; Tesi B; Tham E; Thonberg H; Westenius E; Winberg J; Winerdal M; Nordenskjold M; Johansson-Soller M; Wirta V; Nordgren A; Lindstrand A; Lagerstedt-Robinson K
  • Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;:1-10
    Lindelof H; Hammarsjo A; Voss U; Piticchio SG; Conner P; Papadogiannakis N; Batkovskyte D; Orellana L; Kvarnung M; Malmgren H; Robinson KL; Nordgren A; Lindstrand A; Nishimura G; Grigelioniene G
  • Article: ACTA OPHTHALMOLOGICA. 2025;103(3):327-338
    De Geer K; Lofgren S; Lindstrand A; Kvarnung M; Bjorck E
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2025;197(3):e63935
    Batkovskyte D; Swolin-Eide D; Hammarsjo A; Saether KB; Thunstrom S; Lundin J; Eisfeldt J; Lindstrand A; Nordgren A; Astrom E; Grigelioniene G
  • Article: SCIENTIFIC REPORTS. 2025;15(1):2912
    Ehn E; Eisfeldt J; Laffita-Mesa JM; Thonberg H; Schoumans J; Portaankorva AM; Viitanen M; Lindstrand A; Nennesemo I; Graff C
  • Journal article: GENETICS IN MEDICINE OPEN. 2025;3:102295
    Pande S; Grochowski C; Pehlivan D; Kaur P; Dardas Z; Du H; Rose C; Wincent J; Jhangiani S; Potocki L; Hastings P; Posey J; Lindstrand A; Carvalho C; Lupski J
  • Article: METHODS IN MOLECULAR BIOLOGY. 2025;2968:151-159
    Lindstrand A; Eisfeldt J
  • Article: GENOME MEDICINE. 2024;16(1):146
    Pehlivan D; Bengtsson JD; Bajikar SS; Grochowski CM; Lun MY; Gandhi M; Jolly A; Trostle AJ; Harris HK; Suter B; Aras S; Ramocki MB; Du H; Mehaffey MG; Park K; Wilkey E; Karakas C; Eisfeldt JJ; Pettersson M; Liu L; Shinawi MS; Kimonis VE; Wiszniewski W; Mckenzie K; Roser T; Vianna-Morgante AM; Cornier AS; Abdelmoity A; Hwang JP; Jhangiani SN; Muzny DM; Mitani T; Muramatsu K; Nabatame S; Glaze DG; Fatih JM; Gibbs RA; Liu Z; Lindstrand A; Sedlazeck FJ; Lupski JR; Zoghbi HY; Carvalho CMB
  • Article: SCIENTIFIC REPORTS. 2024;14(1):30343
    Ek M; Kvarnung M; Pettersson M; Soller MJ; Anderlid B-M; Thonberg H; Eisfeldt J; Lindstrand A
  • Article: GENOME RESEARCH. 2024;34(11):1774-1784
    Eisfeldt J; Ameur A; Lenner F; Ten Berk de Boer E; Ek M; Wincent J; Vaz R; Ottosson J; Jonson T; Ivarsson S; Thunstroem S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmeback P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Hoijer I; Saether KB; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
  • Article: GENOME RESEARCH. 2024;34(11):1763-1773
    Eisfeldt J; Higginbotham EJ; Lenner F; Howe J; Fernandez BA; Lindstrand A; Scherer SW; Feuk L
  • Article: GENOME RESEARCH. 2024;34(11):1785-1797
    Bilgrav Saether K; Eisfeldt J; Bengtsson JD; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Ek M; Schuy J; Ameur A; Dai H; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Wincent J; Nordgren A; Carvalho CMB; Lindstrand A
  • Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2024;103(8):1564-1569
    Wincent J; Helgadottir HT; Sergouniotis F; Mantero AS; Carvalho CMB; Malmgren H; Lindstrand A; Iwarsson E
  • Article: CELL GENOMICS. 2024;4(7):100590
    Grochowski CM; Bengtsson JD; Du H; Gandhi M; Lun MY; Mehaffey MG; Park K; Hoeps W; Benito E; Hasenfeld P; Korbel JO; Mahmoud M; Paulin LF; Jhangiani SN; Hwang JP; Bhamidipati SV; Muzny DM; Fatih JM; Gibbs RA; Pendleton M; Harrington E; Juul S; Lindstrand A; Sedlazeck FJ; Pehlivan D; Lupski JR; Carvalho CMB
  • Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;63(5):658-663
    Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
  • Article: SCIENTIFIC REPORTS. 2024;14(1):9000
    ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin E-L; Feuk L; Eisfeldt J; Lindstrand A
  • Article: OPHTHALMIC GENETICS. 2024;45(1):95-102
    Pechhacker MKG; Molnar A; Pekkola Pacheco N; Thonberg H; Querat L; Birkeldh U; Nordgren A; Lindstrand A
  • Journal article: GENETICS IN MEDICINE OPEN. 2024;2:101863
    Schuy J; Sæther KB; Lisfeld J; Ek M; Grochowski CM; Lun MY; Hastie A; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Pettersson M; Carvalho CMB; Eisfeldt J; Lindstrand A
  • Article: GENETICS IN MEDICINE OPEN. 2024;2:101863
    Schuy J; Sæther KB; Lisfeld J; Ek M; Grochowski CM; Lun MY; Hastie A; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Pettersson M; Carvalho CMB; Eisfeldt J; Lindstrand A
  • Journal article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2023;62:159
    Conner P; Westenius E; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
  • Article: BMC OPHTHALMOLOGY. 2023;23(1):394
    De Geer K; Mascianica K; Naess K; Sardh E; Lindstrand A; Bjoerck E
  • Article: PLOS ONE. 2023;18(7):e0289346
    Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
  • Article: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
    Vaz R; Edwards S; Duenas-Rey A; Hofmeister W; Lindstrand A
  • Article: JOURNAL OF INTERNAL MEDICINE. 2023;294(1):96-109
    Aranda-Guillen M; Royrvik EC; Fletcher-Sandersjoo S; Artaza H; Botusan IR; Grytaas MA; Hallgren A; Breivik L; Pettersson M; Jorgensen AP; Lindstrand A; Vogt E; Husebye ES; Kampe O; Wolff ASB; Bensing S; Johansson S; Eriksson D
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2023;191(7):1929-1934
    Pacheco NP; Pettersson M; Lindstrand A; Grigelioniene G
  • Article: FRONTIERS IN GENETICS. 2023;14:1174046
    Flores AG; Nordgren I; Pettersson M; Dias-Santagata D; Nilsson D; Hammarsjo A; Lindstrand A; Batkovskyte D; Wiggs J; Walton DS; Goldenberg P; Eisfeldt J; Lin AE; Lachman RS; Nishimura G; Grigelioniene G
  • Article: FRONTIERS IN NEUROLOGY. 2023;14:1170005
    Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
  • Article: SCIENTIFIC REPORTS. 2023;13(1):6904
    Runheim H; Pettersson M; Hammarsjo A; Nordgren A; Henriksson M; Lindstrand A; Levin L-A; Soller MJ
  • Journal article: PATHOLOGY. 2023;55:s19-s20
    Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Björck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjö A; Helgadottir HT; Hellström-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-Å; Lieden A; Lindelöf H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Journal article: PATHOLOGY. 2023;55:s17
    Lindstrand A
  • Article: BIOMEDICINES. 2022;10(12):3171
    Vaz R; Wincent J; Elfissi N; Rosengren Forsblad K; Pettersson M; Naess K; Wedell A; Wredenberg A; Lindstrand A; Ygberg S
  • Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307
    Lindstrand A; Ek M; Kvarnung M; Anderlid B-M; Bjoerck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjoe A; Helgadottir HT; Hellstroem-Pigg M; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindeloef H; Malmgren H; Nilsson D; Svensson E; Paucar M; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Article: HUMAN MUTATION. 2022;43(11):1567-1575
    Eisfeldt J; Rezayee F; Pettersson M; Lagerstedt K; Malmgren H; Falk A; Grigelioniene G; Lindstrand A
  • Article: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):487-493
    Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
  • Article: BLOOD ADVANCES. 2022;6(17):5009-5023
    Pena-Perez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Mansson R
  • Article: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254
    Stenzinger A; Edsjoe A; Ploeger C; Friedman M; Frohling S; Wirta V; Seufferlein T; Botling J; Duyster J; Akhras M; Thimme R; Fioretos T; Bitzer M; Cavelier L; Schirmacher P; Malek N; Rosenquist R
  • Article: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2022;23(16):9392
    Eisfeldt J; Schuy J; Stattin E-L; Kvarnung M; Falk A; Feuk L; Lindstrand A
  • Article: HUMAN MUTATION. 2022;43(6):708-716
    Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2022;10(4):e1880
    Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
  • Article: FRONTIERS IN GENETICS. 2022;13:839349
    Loid P; Pekkinen M; Mustila T; Tossavainen P; Viljakainen H; Lindstrand A; Maekitie O
  • Article: FRONTIERS IN GENETICS. 2022;12:803683
    Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand A
  • Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2022;65(1):104402
    de Boer E; Yaldiz B; Denomme-Pichon A-S; Matalonga L; Laurie S; Steyaert W; de Reuver R; Gilissen C; Kwint M; Pfundt R; Verloes A; Willemsen MAAP; de Vries BBA; Vitobello A; Kleefstra T; Vissers LELM
  • Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2021;297(6):101355
    Ygberg S; Akkuratov EE; Howard RJ; Taylan F; Jans DC; Mahato DR; Katz A; Kinoshita PF; Portal B; Nennesmo I; Lindskog M; Karlish SJD; Andersson M; Lindstrand A; Brismar H; Aperia A
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2021;185(12):3593-3600
    Zhang C; Mazzeu JF; Eisfeldt J; Grochowski CM; White J; Akdemir ZC; Jhangiani SN; Muzny DM; Gibbs RA; Lindstrand A; Lupski JR; Sutton VR; Carvalho CMB
  • Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008
    Hammarsjo A; Pettersson M; Chitayat D; Handa A; Anderlid B-M; Bartocci M; Basel D; Batkovskyte D; Beleza-Meireles A; Conner P; Eisfeldt J; Girisha KM; Chung BH-Y; Horemuzova E; Hyodo H; Kornejeva L; Lagerstedt-Robinson K; Lin AE; Magnusson M; Moosa S; Nayak SS; Nilsson D; Ohashi H; Ohashi-Fukuda N; Stranneheim H; Taylan F; Traberg R; Voss U; Wirta V; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
  • Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1359-1368
    de Boer E; Ockeloen CW; Matalonga L; Horvath R; Rodenburg RJ; Coenen MJH; Janssen M; Henssen D; Gilissen C; Steyaert W; Paramonov I; Trimouille A; Kleefstra T; Verloes A; Vissers LELM
  • Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1337-1347
    Matalonga L; Hernandez-Ferrer C; Piscia D; Schuele R; Synofzik M; Topf A; Vissers LELM; de Voer R; Tonda R; Laurie S; Fernandez-Callejo M; Pico D; Garcia-Linares C; Papakonstantinou A; Corvo A; Joshi R; Diez H; Gut I; Hoischen A; Graessner H; Beltran S
  • Article: FRONTIERS IN GENETICS. 2021;12:708348
    Grochowski CM; Krepischi ACV; Eisfeldt J; Du H; Bertola DR; Oliveira D; Costa SS; Lupski JR; Lindstrand A; Carvalho CMB
  • Article: HUMAN GENETICS. 2021;140(5):775-790
    Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A
  • Article: GENETICS IN MEDICINE. 2021;23(5):888-899
    Rodriguez-Palmero A; Boerrigter MM; Gomez-Andres D; Aldinger KA; Marcos-Alcalde I; Popp B; Everman DB; Lovgren AK; Arpin S; Bahrambeigi V; Beunders G; Bisgaard A-M; Bjerregaard VA; Bruel A-L; Challman TD; Cogne B; Coubes C; de Man SA; Denomme-Pichon A-S; Dye TJ; Elmslie F; Feuk L; Garcia-Minaur S; Gertler T; Giorgio E; Gruchy N; Haack TB; Haldeman-Englert CR; Haukanes BI; Hoyer J; Hurst ACE; Isidor B; Soller MJ; Kushary S; Kvarnung M; Landau YE; Leppig KA; Lindstrand A; Kleinendorst L; MacKenzie A; Mandrile G; Mendelsohn BA; Moghadasi S; Morton JE; Moutton S; Mueller AJ; O'Leary M; Pacio-Miguez M; Palomares-Bralo M; Parikh S; Pfundt R; Pode-Shakked B; Rauch A; Repnikova E; Revah-Politi A; Ross MJ; Ruivenkamp CAL; Sarrazin E; Savatt JM; Schlueter A; Schoenewolf-Greulich B; Shad Z; Shaw-Smith C; Shieh JT; Shohat M; Spranger S; Thiese H; Mau-Them FT; van Bon B; van de Burgt I; van de Laar IMBH; van Drie E; van Haelst MM; van Ravenswaaij-Arts CM; Verdura E; Vitobello A; Waldmueller S; Whiting S; Zweier C; Prada CE; de Vries BBA; Dobyns WB; Reiter SF; Gomez-Puertas P; Pujol A; Tumer Z
  • Article: GENOME MEDICINE. 2021;13(1):63
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; Earl RK; Nowakowski T; Bernier RA; Eichler EE
  • Article: GENOME MEDICINE. 2021;13(1):40
    Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid B-M; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stodberg T; Tesi B; Tham E; Thonberg H; Tohonen V; von Dobeln U; Vassiliou D; Vonlanthen S; Wikstrom A-C; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
  • Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(5):692-706
    Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Stevenson RE; Ha T; Cavalcanti DP; Miyahara H; Skinner SA; Aguirre MA; Akcoeren Z; Utine GE; Chiu T; Shimizu K; Hammarsjoe A; Boduroglu K; Moore HW; Louie RJ; Arts P; Merrihew AN; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
  • Article: HUMAN MUTATION. 2020;41(11):1979-1998
    Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Breman AM; Cheung SW; Krepischi ACV; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Article: NATURE COMMUNICATIONS. 2020;11(1):4932
    Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Dalla Bernardina B; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
  • Article: BMC BIOINFORMATICS. 2020;21(1):273
    Magnusson M; Eisfeldt J; Nilsson D; Rosenbaum A; Wirta V; Lindstrand A; Wedell A; Stranneheim H
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1143-1151
    Plesser Duvdevani M; Pettersson M; Eisfeldt J; Avraham O; Dagan J; Frumkin A; Lupski JR; Lindstrand A; Harel T
  • Article: BMC MEDICAL GENETICS. 2020;21(1):87
    Bieder A; Einarsdottir E; Matsson H; Nilsson HE; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Paez I
  • Article: PLOS ONE. 2020;15(2):e0228622
    Dahl S; Pettersson M; Eisfeldt J; Schroder AK; Wickstrom R; Fahnehjelm KT; Anderlid B-M; Lindstrand A
  • Article: MOLECULAR BIOLOGY AND EVOLUTION. 2020;37(1):18-30
    Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
  • Article: CLINICAL GENETICS. 2019;96(6):560-565
    Radhakrishnan P; Nayak SS; Shukla A; Lindstrand A; Girisha KM
  • Article: GENOME MEDICINE. 2019;11(1):68
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid B-M; Bjerin O; Gustavsson P; Hammarsjo A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjold M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
  • Article: FRONTIERS IN GENETICS. 2019;10:896
    Kvarnung M; Shahsavani M; Taylan F; Moslem M; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B-M; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
  • Article: SCIENCE ADVANCES. 2019;5(9):eaax2166
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    Kiselev A; Vaz R; Knyazeva A; Sergushichev A; Dmitrieva R; Khudiakov A; Jorholt J; Smolina N; Sukhareva K; Fomicheva Y; Mikhaylov E; Mitrofanova L; Predeusu A; Sjoberg G; Rudenko D; Sejersen T; Lindstrand A; Kostareva A
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    Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
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    Grigelioniene G; Suzuki HI; Taylan F; Mirzamohammadi F; Borochowitz ZU; Ayturk UM; Tzur S; Horemuzova E; Lindstrand A; Weis MA; Grigelionis G; Hammarsjo A; Marsk E; Nordgren A; Nordenskjold M; Eyre DR; Warman ML; Nishimura G; Sharp PA; Kobayashi T
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    Cogne B; Ehresmann S; Beauregard-Lacroix E; Rousseau J; Besnard T; Garcia T; Petrovski S; Avni S; McWalter K; Blackburn PR; Sanders SJ; Uguen K; Harris J; Cohen JS; Blyth M; Lehman A; Berg J; Li MH; Kini U; Joss S; von der Lippe C; Gordon CT; Humberson JB; Robak L; Scott DA; Sutton VR; Skraban CM; Johnston JJ; Poduri A; Nordenskjold M; Shashi V; Gerkes EH; Bongers EMHF; Gilissen C; Zarate YA; Kvarnung M; Lally KP; Kulch PA; Daniels B; Hernandez-Garcia A; Stong N; McGaughran J; Retterer K; Tveten K; Sullivan J; Geisheker MR; Stray-Pedersen A; Tarpinian JM; Klee EW; Sapp JC; Zyskind J; Holla OL; Bedoukian E; Filippini F; Guimier A; Picard A; Busk OL; Punetha J; Pfundt R; Lindstrand A; Nordgren A; Kalb F; Desai M; Ebanks AH; Jhangiani SN; Dewan T; Akdemir ZHC; Telegrafi A; Zackai EH; Begtrup A; Song X; Toutain A; Wentzensen IM; Odent S; Bonneau D; Latypova X; Deb W; Redon S; Bilan F; Legendre M; Troyer C; Whitlock K; Caluseriu O; Murphree MI; Pichurin PN; Agre K; Gavrilova R; Rinne T; Park M; Shain C; Heinzen EL; Xiao R; Amiel J; Lyonnet S; Isidor B; Biesecker LG; Lowenstein D; Posey JE; Denomme-Pichon A-S; Ferec C; Yang X-J; Rosenfeld JA; Gilbert-Dussardier B; Audebert-Bellanger S; Redon R; Stessman HAF; Nellaker C; Yang Y; Lupski JR; Goldstein DB; Eichler EE; Bolduc F; Bezieau S; Kury S; Campeau PM
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    Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
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    Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; Kvarnung M; Kleefstra T; de Vries BBA; Kury S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF; Bakshi M; Wilson M; Berman Y; Dickson R; Fransen E; Helsmoortel C; Van den Ende J; Van der Aa N; van de Wijdeven MJ; Rosenblum J; Monteiro F; Kok F; Quercia N; Bowdin S; Dyment D; Chitayat D; Alkhunaizi E; Boonen SE; Keren B; Jacquette A; Faivre L; Bezieau S; Isidor B; Riess A; Moog U; Lynch SA; McVeigh T; Elpeleg O; Smeland MF; Fannemel M; van Haeringen A; Maas SM; Veenstra-Knol HE; Schouten M; Willemsen MH; Marcelis CL; Ockeloen C; van der Burgt I; Feenstra I; van der Smagt J; Jezela-Stanek A; Krajewska-Walasek M; Gonzalez-Lamuno D; Anderlid B-M; Malmgren H; Nordenskjold M; Clement E; Hurst J; Metcalfe K; Mansour S; Lachlan K; Clayton-Smith J; Hendon LG; Abdulrahman OA; Morrow E; McMillan C; Gerdts J; Peeden J; Vergano SAS; Valentino C; Chung WK; Ozmore JR; Bedrosian-Sermone S; Dennis A; Treat K; Hughes SS; Safina N; Le Pichon J-B; McGuire M; Infante E; Madan-Khetarpal S; Desai S; Benke P; Krokosky A; Cristian I; Baker L; Gripp K; Stessman HA; Eichenberger J; Jayakar P; Pizzino A; Manning MA; Slattery L
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    Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
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    Henry OJ; Ygberg S; Barbaro M; Lesko N; Karlsson L; Pena-Perez L; Bergquist AB; Tohonen V; Stranneheim H; Lindstrand A; Stodberg T; Wedell A
  • Editorial comment: NATURE GENETICS. 2024;56(11):2287-2294
    Delgado-Vega AM; Cederroth H; Taylan F; Ekholm K; Ek M; Thonberg H; Jemt A; Nilsson D; Eisfeldt J; Saether KB; Hoijer I; Akgun-Dogan O; Asano Y; Barakat TS; Batkovskyte D; Baynam G; Bodamer O; Chetruengchai W; Corcoran P; Couse M; Danis D; Demidov G; Dohi E; Erhardsson M; Fernandez-Luna L; Fujiwara T; Garg N; Giugliani R; Gonzaga-Jauregui C; Grigelioniene G; Groza T; Gunnarsson C; Hammarsjo A; Hammond CK; Ng OH; Hesketh S; Hettiarachchi D; Soller MJ; Kirmani UA; Kjellberg M; Kvarnung M; Kvlividze O; Lagerstedt-Robinson K; Lasko P; Lassmann T; Lau LYS; Laurie S; Lim WK; Liu Z; Wiklander ML; Makay P; Maiga AB; Maya-Gonzalez C; Meyn MS; Neethiraj R; Nigro V; Nordgren F; Nordlund J; Orrsjo S; Ottosson J; Ozbek U; Ozdemir O; Partin C; Pearce DA; Peck R; Pedersen A; Pettersson M; Pongpanich M; de la Paz MP; Ramani A; Romero JA; Romero VI; Rosenquist R; Saw AM; Spencer M; Stattin E-L; Srichomthong C; Tapia-Paez I; Taruscio D; Taylor JP; Tkemaladze T; Tully I; Tumer Z; van Zelst-Stams WAG; Verloes A; Vasterviga E; Wang S; Yang R; Yamamoto S; Yepez VA; Zhang Q; Shotelersuk V; Wiafe SA; Alanay Y; Botto LD; Kirmani S; Lumaka A; Palmer EE; Puri RD; Wirta V; Lindstrand A; Buske OJ; Cederroth M; Nordgren A
  • Preprint: BIORXIV. 2024
    Hansen J; Sun H; Kahnert K; Westenius E; Johannesson A; Villegas C; Le T; Tzavlaki K; Winsnes C; Pohjanen E; Mäkiniemi A; Fall J; Navarro FB; Bäckström A; Lindskog C; Johansson F; von Feilitzen K; Delgado-Vega A; Casals AM; Mahdessian D; Uhlén M; Sheu S-H; Lindstrand A; Axelsson U; Lundberg E
  • Conference publication: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2024;64 Suppl 1:289-290
    Conner P; Westenius E; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
  • Preprint: MEDRXIV. 2024;MEDRXIV
    Bilgrav Saether K; Eisfeldt J; Bengtsson J; Lun MY; Grochowski CM; Mahmoud M; Chao H-T; Rosenfeld JA; Liu P; Schuy J; Ameur A; Undiagnosed Diseases Network; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Nordgren A; Carvalho CMB; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524
    Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid B-M; Hammarsjo A; Helgadottir H; Arnardottir S; Naess K; Nennesemo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:606
    Schuy J; Saether KB; Lisfeld J; Ek M; Grochowski CM; Rudolph S; Fuchs S; Neveling K; Hempel M; Hoischen A; Hastie A; Carvalho C; Eisfeldt J; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:603-604
    Saether KB; Ek M; Lindstrand A; Eisfeldt J
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:643
    de Boer ETB; Thonberg H; Carlsten J; Jemt A; Eisfeldt J; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:629
    Carlsten J; Thonberg H; de Boer ETB; Jemt A; Eisfeldt J; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:472-473
    Eisfeldt J; Higginbotham T; Lindstrand A; Scherer S; Feuk L
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:539
    Berland S; Bratland E; Hjertnes L; Baroy T; Lindstrand A; Carvalho C
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:689
    Vaz R; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1779-1780
    Betz C; Bolz H; Spielmann M; Feuk L; Lindstrand A; Herzog K; Zschocke J; Gilissen C; Vissers L; Hoischen A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1310-1311
    Westenius E; Conner P; Pettersson M; Sahlin E; Papadogiannakis N; Lindstrand A; Iwarsson E
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1645
    Pena-Perez L; Jemt A; Thonberg H; Eisfeldt J; Stranneheim H; Wedell A; Lindstrand A; Wirta V
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1610-1611
    Paivandy A; Lenner F; Jonson T; Ehrencrona H; Lindstrand A; Howe J; Scherer S; Feuk L
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1154
    Eisfeldt J; Saether KB; de Boer ETB; Ek M; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1461-1462
    de Boer ETB; Shahsavani M; Eisfeldt J; Nordgren A; Lindstrand A
  • Preprint: MEDRXIV. 2023
    Eisfeldt J; Ameur A; Lenner F; ten Berk de Boer E; Ek M; Wincent J; Vaz R; Ottosson J; Jonsson T; Ivarsson S; Thunstrom S; Topa A; Stenberg S; Rohlin A; Sandestig A; Nordling M; Palmebäck P; Burstedt M; Nordin F; Stattin E-L; Sobol M; Baliakas P; Bondeson M-L; Höijer I; Bilgrav Saether K; Lovmar L; Ehrencrona H; Melin M; Feuk L; Lindstrand A
  • Preprint: BIORXIV. 2023;BIORXIV
    Grochowski CM; Bengtsson JD; Du H; Gandhi M; Lun MY; Mehaffey MG; Park K; Höps W; Benito-Garagorri E; Hasenfeld P; Korbel JO; Mahmoud M; Paulin LF; Jhangiani SN; Muzny DM; Fatih JM; Gibbs RA; Pendleton M; Harrington E; Juul S; Lindstrand A; Sedlazeck FJ; Pehlivan D; Lupski JR; Carvalho CMB
  • Review: JOURNAL OF INTERNAL MEDICINE. 2023;294(4):397-412
    Tesi B; Boileau C; Boycott KM; Canaud G; Caulfield M; Choukair D; Hill S; Spielmann M; Wedell A; Wirta V; Nordgren A; Lindstrand A
  • Other: JOURNAL OF PEDIATRIC UROLOGY. 2023;19(3):335-338
    Nordgren A; Lindstrand A; Wu H-Y; Fossum M
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:348-349
    Eisfeldt J; Holmgren C; Tirfing M; Lindstrand A; Iwarsson E; Lieden A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:646
    Saether KB; Lindstrand A; Eisfeldt J
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451
    Lindstrand A; Ek M; Kvarnung M; Anderlid BM; Bjorck E; Carlsten J; Eisfeldt J; Grigelioniene G; Gustavsson P; Hammarsjo A; Helgadottir H; Pigg MH; Kuchinskaya E; Lagerstedt-Robinson K; Levin L-A; Lieden A; Lindelof H; Malmgren H; Nilsson D; Svensson E; Arce MP; Sahlin E; Tesi B; Tham E; Winberg J; Winerdal M; Wincent J; Soller MJ; Pettersson M; Nordgren A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:48
    Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:632
    Soller M; Runheim H; Nordgren A; Petters-Son M; Hammarsjo A; Henriksson M; Levin L-A; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:469
    Ehn E; Eisfeldt J; Thonberg H; Laffita J; Schoumans J; Remes A; Viitanen M; Lindstrand A; Nennesemo I; Graff C
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:590-591
    Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Lesko N; Nilsson D; Vonlanthen S; Eisfeldt J; Kvarnung M; Engvall M; Malmgren H; Anderlid B-M; Rasi C; Jemt A; Marits P; Soller MJ; Nordgren A; Wirta V; Wedell A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:444
    Frisk S; Wachtmeister A; Laurell T; Lindstrand A; Jantti N; Malmgren H; Lagerstedt-Robinson K; Tesi B; Taylan F; Nordgren A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:576-577
    Eisfeldt J; Schuy J; Stattin E-L; Lindstrand A
  • Published conference paper: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:429
    Missense variant in PDK1 associated with severe developmental delay and epilepsy
    Vaz R; Wincent J; Elfissi N; Forsblad K; Pettersson M; Naess K; Wedell A; Wreden-Berg A; Lindstrand A; Ygberg S
  • Preprint: RESEARCH SQUARE. 2023
    De Geer K; Mascianica K; Naess K; Sardh E; Lindstrand A; Björck E
  • Conference publication: PATHOLOGY. 2023;55:s19
    Lindstrand A
  • Review: CAMBRIDGE PRISMS: PRECISION MEDICINE. 2023;1:e15
    Edsjö A; Lindstrand A; Gisselsson D; Mölling P; Friedman M; Cavelier L; Johansson M; Ehrencrona H; Fagerqvist T; Strid T; Lovmar L; Jacobsson B; Johansson Å; Engstrand L; Wheelock CE; Sikora P; Wirta V; Fioretos T; Rosenquist R; Genomic Medicine Sweden (GMS)
  • Review: TRENDS IN GENETICS. 2022;38(11):1134-1146
    Schuy J; Grochowski CM; Carvalho CMB; Lindstrand A
  • Other: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):586
    Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
  • Conference publication: ANNALS OF NEUROLOGY. 2022;92:S171-S172
    Pehlivan D; Gandhi M; Grochowski CM; Bajikar SS; Harris HK; Suter B; Du H; Jhangiani SN; Muzny DM; Fatih JM; Mehaffey MG; Park K; Glaze DG; Gibbs RA; Lindstrand A; Lupski JR; Sedlazeck FJ; Zoghbi HY; Carvalho CMB
  • Letter: ULTRASOUND IN OBSTETRICS & GYNECOLOGY. 2022;60(4):585-586
    Westenius E; Sahlin E; Conner P; Lindstrand A; Iwarsson E
  • Letter: NATURE MEDICINE. 2022;28(10):1980-1982
    Fioretos T; Wirta V; Cavelier L; Berglund E; Friedman M; Akhras M; Botling J; Ehrencrona H; Engstrand L; Helenius G; Fagerqvist T; Gisselsson D; Gruvberger-Saal S; Gyllensten U; Heidenblad M; Hoglund K; Jacobsson B; Johansson M; Johansson A; Soller MJ; Landstrom M; Larsson P; Levin L-A; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Molling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Soderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjo A; Rosenquist R
  • Other: CLINICAL CASE REPORTS. 2022;10(6):e5989
    Ygberg S; Lindstrand A
  • Conference publication: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2022;63(7)
    Pechhacker MG; Molnar A; Birkeldh U; Querat L; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):41-42
    Batkovskyte D; McKenzie F; Taylan F; Simsek-Kiper PO; Nikkel SM; Ohashi H; Miyahara H; Eriksson G; Ha T; Utine GE; Chiu T; Shimizu K; Hammarsjo A; Boduroglu K; Arts P; Babic M; Jackson MR; Papadogiannakis N; Lindstrand A; Nordgren A; Barnett CP; Scott HS; Chagin AS; Nishimura G; Grigelioniene G
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):236-237
    Denomme-Pichon A-S; de Boer E; Jackson A; Benetti E; Banka S; Casari G; Ciolfi A; Clayton-Smith J; Dallapiccola B; Ellwanger K; Faivre L; Gilissen C; Graessner H; Haack TB; Hammarsjo A; Havlovicova M; Hoischen A; Hugon A; Kleefstra T; Lindstrand A; Lopez-Martin E; Macek MJ; Matalonga L; Morleo M; Nigro V; Nordgren A; Pettersson M; Pinelli M; Pizzi S; Posada M; Radio FC; Renieri A; Rooryck C; Ryba L; Schwarz M; Tartaglia M; Thauvin C; Torella A; Trimouille A; Votypka P; Vyshka K; Zurek B; Verloes A; Vitobello A; Vissers L
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2022;30(SUPPL 1):440
    Grochowski CM; Potocki L; Lindstrand A; Carvalho CMB; Lupski JR
  • Preprint: MEDRXIV. 2022
    Lowther C; Mehrjouy M; Collins R; Bak M; Dudchenko O; Brand H; Dong Z; Rasmussen M; Gu H; Weisz D; Nazaryan-Petersen L; Fjorder A; Mang Y; Lind-Thomsen A; Mendez JMM; Calle X; Chopra A; Hansen C; Bugge M; Broekema R; Varilo T; Luukkonen T; Engelen J; Vianna-Morgante A; Fonseca AC; Mazzeu J; Dornelles-Wawruk H; Abe K; Vermeesch J; Van Den Bogaert K; Sismani C; Aristidou C; Evangelidou P; Schinzel A; Sanlaville D; Schluth-Bolard C; Kalscheuer V; Wenzel M; Kim H-G; Õunap K; Roht L; Midyan S; Bonaglia M; Lindstrand A; Eisfeldt J; Ottosson J; Nilsson D; Pettersson M; Bastos E; Rajcan-Separovic E; Silan F; Sheth F; Novelli A; Frengen E; Fannemel M; Strømme P; Vokač NK; Daumer-Haas C; Moretti-Ferreira D; de Souza DH; Ramos-Arroyo M; Igoa M; Angelova L; Kroisel P; Rey GD; Vieira TAP; Lewis S; Hao W; Drabova J; Havlovicova M; Hancarova M; Sedláček Z; Vogel I; Hjortshøj T; Møller R; Tümer Z; Fagerberg C; Ousager L; Schönewolf-Greulich B; Lauridsen M; Piard J; Pebrel-Richard C; Jaillard S; Ehmke N; Stefanou E; Marta C; György K; Dalal A; Dutta U; Shukla R; Lonardo F; Zuffardi O; Houge G; Misceo D; Baig S; Midro A; Wawrusiewicz-Kurylonek N; Carreira I; Melo J; Martinez LR; Guitart M; Lovmar L; Gullander J; Hansson KBM; de Almeida Esteves C; Akkari Y; Batanian J; Li X; Lespinasse J; Silahtaroglu A; Harding CH; Krogh LN; Taylor J; Lehnert K; Hill R; Snell R; Samson C; Jacobsen J; Levy B; Clark OA; Toylu A; Nur B; Mihci E; O’Keefe K; Mohajeri-Stickels K; Wilch E; Kammin T; Piña-Aguilar R; Nalbandian K; Temel S; Sag SO; Turkgenc B; Kamath A; Ruiz-Herrera A; Banka S; Schilit SLP; Currall B; Yachelevich N; Galloway S; Chung W; Raskin S; Maya I; Orenstein N; Gilad NK; Flamenbaum K; Hay B; Morton C; Liao E; Choy KW; Gusella J; Jacky P; Aiden EL; International Breakpoint Mapping Consortium (IBMC); Danish Cytogenetic Central Registry Study Group; Developmental Genome Anatomy Project (DGAP); Bache I; Talkowski M; Tommerup N
  • Preprint: AUTHOREA PREPRINTS. 2021
    Ygberg S; Lindstrand A
  • Preprint: BIORXIV. 2021
    Peña-Pérez L; Frengen N; Hauenstein J; Gran C; Gustafsson C; Eisfeldt J; Kierczak M; Taborsak-Lines F; Olsen R-A; Wallblom A; Krstic A; Ewels P; Lindstrand A; Månsson R
  • Preprint: AUTHOREA PREPRINTS. 2021
    Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
  • Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2021;29(9):1470-1471
    de Boer E; Ockeloen CW; Matalonga L; Horvath R; Rodenburg RJ; Coenen MJH; Janssen M; Henssen D; Gilissen C; Steyaert W; Trimouille A; Kleefstra T; Verloes A; Vissers LELM
  • Other: LAKARTIDNINGEN. 2021;118:21015
    Johansson Soller M; Nordgren A; Ehrencrona H; Lovmar L; Wedell A; Lindstrand A
  • Other: XIIITH INTERNATIONAL SYMPOSIUM ON SPERMATOLOGY. 2021;:125
    Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):254
    Hammarsjo A; Pettersson M; Chitayat D; Handa A; Taylan F; Batkovskyte D; Anderlid B; Lin AE; Shimizu K; Beleza-Meireles A; Chung B; Voss U; Nordgren A; Nishimura G; Lindstrand A; Grigelioniene G
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):3-4
    Kvarnung M; Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Lindstrand A; Nordgren A; Anderlid B; Rosenfeld JA; Liu P; Scheffer IE; Brunetti-Perri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy FR; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE; Nordenskjold M
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):331-332
    Rodriguez-Palmero Seuma A; Boerrigter M; Mandrile G; Pelle A; Giorgio E; Lindstrand A; Johansson M; Kvarnung M; Everman D; Bahrambeigi V; MacKenzie A; Morton J; Ruivenkamp C; Challman T; Hurst A; Hoyer J; Elmslie F; Dye T; Isidor B; Haldeman-Englert C; Gomez-Andres D; Schluter A; de Man S; Shieh J; Prada C; Moutton S; Denomme-Pichon A; Motti S; Bruel A; Mau-Them FT; Reiter S; van Ravenswaaij-Arts C; Shaw-Smith C; Parikh S; Aldinger K; Lovgren A; Rauch A; Ross M; Gomez-Puertas P; de Vries B; Pujol A; Tumer Z
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53
    Lindstrand A; Stranneheim H; Lagerstedt-Robinson K; Kvarnung M; Lesko N; Nilsson D; Anderlid B; Arnell H; Johansson CB; Barbaro M; Bjorck E; Bruhn H; Eisfeldt J; Engvall M; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjo A; Hellstrom-Pigg M; Jemt A; Laaksonen M; Enoksson SL; Magnusson M; Malmgren H; Naess K; Nordenskjold M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Stodberg T; Tesi B; Tham E; Thonberg H; von Dobeln U; Vonlanthen S; Wikstrom A; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterstrom RH; Marits P; Johansson-Soller M; Soller MJ; Nordgren A; Wirta V; Wedell A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):588
    Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Shahsavani M; Nilsson D; Falk A; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):117-118
    Grochowski CM; Pettersson M; Eisfeldt J; Gandhi M; Pehlivan D; Gonzaga-Jauregui C; Withers M; Stankiewicz P; Krepischi ACV; Lupski JR; Lindstrand A; Carvalho CMB
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):605-606
    Gran C; Pena-Perez L; Eisfeldt J; Gustafsson C; Bruchfeld JB; Hauenstein J; Frengen N; Taborsak-Lines F; Olsen R; Ewels P; Lindstrand A; Nahi H; Mansson R
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):908-909
    Lisfeld J; Pettersson M; Rudolph S; Fuchs S; Eisfeldt J; Hempel M; Lindstrand A
  • Other: NATURE COMMUNICATIONS. 2020;11(1):5398
    Wang T; Hoekzema K; Vecchio D; Wu H; Sulovari A; Coe BP; Gillentine MA; Wilfert AB; Perez-Jurado LA; Kvarnung M; Sleyp Y; Earl RK; Rosenfeld JA; Geisheker MR; Han L; Du B; Barnett C; Thompson E; Shaw M; Carroll R; Friend K; Catford R; Palmer EE; Zou X; Ou J; Li H; Guo H; Gerdts J; Avola E; Calabrese G; Elia M; Greco D; Lindstrand A; Nordgren A; Anderlid B-M; Vandeweyer G; Van Dijck A; Van der Aa N; McKenna B; Hancarova M; Bendova S; Havlovicova M; Malerba G; Bernardina BD; Muglia P; van Haeringen A; Hoffer MJV; Franke B; Cappuccio G; Delatycki M; Lockhart PJ; Manning MA; Liu P; Scheffer IE; Brunetti-Pierri N; Rommelse N; Amaral DG; Santen GWE; Trabetti E; Sedlacek Z; Michaelson JJ; Pierce K; Courchesne E; Kooy RF; Nordenskjold M; Romano C; Peeters H; Bernier RA; Gecz J; Xia K; Eichler EE
  • Other: LAKARTIDNINGEN. 2020;117:19238
    Fahnehjelm C; Dahl S; Skriapa Manta A; Lindstrand A; Wickström R; Fahnehjelm K
  • Conference publication: FASEB JOURNAL. 2020;34:1
    Howard R; Ygberg S; Andersson M; Akkuratov E; Jans D; Brismar H; Lindstrand A; Aperia A
  • Preprint: BIORXIV. 2020
    Bieder A; Einarsdottir E; Matsson H; Nilsson H; Eisfeldt J; Dragomir A; Paucar M; Granberg T; Li T-Q; Lindstrand A; Kere J; Tapia-Páez I
  • Other: LAKARTIDNINGEN. 2020;117:FU7F
    Norling A; Lindstrand A; Hirschberg A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1272
    Vaz R; Hammarsjo A; Taylan F; Chitayat D; Grigelioniene G; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666-1667
    Nilsson D; Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1533
    Lagerstedt-Robinson K; Anderlid B; Nordgren A; Grigelioniene G; Kvarnung M; Gustavsson P; Tham E; Nilsson D; Soller MJ; Nordenskjold M; Lindstrand A; Malmgren H
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1143
    Kvarnung M; Shahsavani M; Taylan F; Breeuwsma N; Laan L; Schuster J; Jin Z; Nilsson D; Lieden A; Anderlid B; Nordenskjold M; Lundberg ES; Birnir B; Dahl N; Nordgren A; Lindstrand A; Falk A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1766
    Eisfeldt J; Martensson G; Ameur A; Nilsson D; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1137-1138
    Pettersson M; Grochowski CM; Eisfeldt J; Wincent J; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1666
    Duvdevani MP; Pettersson M; Eisfeldt J; Frumkin A; Lindstrand A; Harel T
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1659
    Jemt A; Eisfeldt J; Lindstrand A; Wedell A; Stranneheim H
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1519-1520
    Taylan F; Frisk S; Blaszczyk I; Nennesmo I; Anneren G; Stattin E; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1070
    Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1830
    Pacheco NP; Lagerstedt-Robinson K; Tesi B; Hammarsjo A; Mannila M; Lindstrand A; Grigelioniene G
  • Conference publication: 2019
    G G; HI S; F T; F M; ZU B; UM A; S T; E H; A L; MA W; G G; A H; E M; A N; M N; DR E; ML W; G N; PA S; T K
  • Conference publication: MOLECULAR CYTOGENETICS. 2019;12
    Eisfeldt J; Lundin J; Pettersson M; Kvarnung M; Lieden A; Sahlin E; Lagerstedt K; Martin M; Ygberg S; Bjerin O; Stranneheim H; Wedell A; Nordenskjold M; Soller MJ; Nordgren A; Wirta V; Nilsson D; Lindstrand A
  • Conference publication: MOLECULAR CYTOGENETICS. 2019;12
    Pettersson M; Grochowski CM; Wincent J; Eisfeldt J; Cheung SW; Victorino Krepischi AC; Rosenberg C; Lupski JR; Ottosson J; Lovmar L; Gacic J; Lundberg ES; Nilsson D; Carvalho CMB; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:123-124
    Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
  • Review: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2019;20(6):E1296-1296
    Vaz R; Hofmeister W; Lindstrand A
  • Other: BASIC AND CLINICAL ANDROLOGY. 2018;28:13
    Levine H; Mohri H; Ekbom A; Ramos L; Parker G; Roldan E; Jovine L; Koelle S; Lindstrand A; Immler S; Mortimer S; Mortimer D; van der Horst G; Ishijima S; Aneck-Hahn N; Baldi E; Menkveld R; Rothmann SA; Giwercman A; Giwercman Y; Holmberg M; Kvist U; Bjorndahl L; Holmberg R; Arver S; Flanagan J; Drevet JR
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:60
    Nazaryan-Petersen L; Eisfeldt J; Lundin J; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:677
    Nilsson D; Robinson KL; Malmgren H; Karlsson M; Gustavsson P; Hammarsjo A; Grigelioniene G; Arce MP; Tham E; Pigg MH; Anderlid B; Nordgren A; Jorholt J; Kvarnung M; Sejersen T; Lieden A; Lundin J; Eisfeldt J; Lindstrand A; Wirta V; Nordenskjold M
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:675
    Lagerstedt-Robinson K; Anderlid B; Nordgren A; Kvarnung M; Lindstrand A; Grigelioniene G; Tham E; Gustavsson P; Nilsson D; Nordenskjold M; Malmgren H
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:510-511
    Hofmeister W; Kurtoglo D; Pettersson M; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:211
    Pettersson M; Viljakainen H; Loid P; Mustila T; Armenio M; Assarsson JA; Makitie O; Lindstrand A
  • Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2018;26:590-591
    Dahl S; Pettersson M; Wickstrom R; Fahnehjelm KT; Anderlid B; Lindstrand A
  • Preprint: BIORXIV. 2018
    Hofmeister W; Vaz R; Edwards S; Dueñas Rey A; Lindstrand A
  • Conference publication: BONE ABSTRACTS. 2017
    Costantini A; Skarp S; Kampe A; Pettersson M; Makitie R; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
  • Conference publication: MOLECULAR CYTOGENETICS. 2017;10
    Eisfeldt J; Nazaryan-Petersen L; Lundin JL; Pettersson M; Nilsson D; Wincent J; Lieden A; Vezzi F; Wirta V; Kaller M; Duelund T; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
  • Letter: CLINICAL GENETICS. 2015;87(5):496-498
    Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
  • Doctoral thesis: 2009
    Lindstrand A
  • Conference publication: CHROMOSOME RESEARCH. 2009;17:92
    Lindstrand A; Anderlid B; Bruno D; Lundin J; Martin CL; Nowak C; Slater H; Schoumans J
  • Conference publication: CHROMOSOME RESEARCH. 2009;17:92-93
    Lindstrand A; Anderlid B; Bruno D; Lundin J; Martin CL; Nowak C; Slater H; Schoumans J
  • Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2009;72:241
    Lindgren AC; Lindstrand A; Hagenas L; Malmgren H; Blennow E; Grigelioniene G
  • Letter: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2008;146A(24):3217-3222
    Lindstrand A; Malmgren H; Sahlen S; Xin H; Schoumans J; Blennow E
  • Conference publication: CELLULAR ONCOLOGY. 2007;29(2):148
    Lindstrand A; Malmgren H; Schoumans J; Blennow E
  • Conference publication: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2005;48(4):454-455
    Sahlén S; Malmgren H; Lindstrand A; Schoumans J; Blennow E
  • Visa fler

Forskningsbidrag

  • Swedish Research Council
    1 January 2023 - 31 December 2026
    The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV.  Many times, the specific disease-causing mechanism is not known. Here, we plan to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved.First, we will use genome sequencing to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, we will study how structural variants impact gene expression. Finally, we will functionally explore the disease mechanisms in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells.Our studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms our findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.
  • Swedish Cancer Society
    1 January 2022
    Acute myeloid leukemia (AML) annually affects more than 300,000 people worldwide, and in Sweden approximately 350 new cases are diagnosed each year. The prognosis is poor, many relapse several times in the disease and about 75% die within five years. The treatment is based on combining several different cytostatics, with cytarabine (ara-C) being the most effective. Many different genetic changes have been described in AML and some of these are used clinically as prognostic markers and to find relapses early. However, there are no genetic tests that can be used to tailor cancer treatment. Recently, it has been shown that SAMHD1 expression influences treatment effect in AML patients. Lower expression leads to better effect of ara-C. We have established a zebrafish model that will be used to (i) study in vivo how SAMHD1 affects ara-C effect, (ii) identify chemicals that lower SAMHD1 expression and function, and (iii) identify potential drugs that are not affected by SAMHD1. We plan here to study in a zebrafish model of AML how genetic factors affect the effect of chemotherapy and to use the same system to identify chemicals that have a similar effect. This is very relevant to the leukemia field, and can be used in different types of leukemia. An advantage of developing such an animal model is to be able to research specific mutations found in patients and how they affect the treatment in a rapid manner. Therefore, we can offer patients the best treatment and improve their survival.
  • Swedish Research Council
    1 January 2020 - 31 December 2025
    The project is focused on the detailed study of structural genomic variants (SVs). Such genetic mutations are in fact alterations in the DNA molecule structure and include copy number variants, inversions and translocations. A single event may affect many genes as well as regulatory regions and the specific phenotypic consequences will depend on the location, genetic content and type of SV.  Many times, the specific disease-causing mechanism is not known. Here, we plan to study the molecular genetic behavior of structural variants as well as the underlying mutational mechanisms involved.First, we will use genome sequencing to pinpoint the chromosomal breakpoints at the nucleotide level, characterize the genomic architecture at the breakpoints and study the relationship between structural variants and SNVs. Second, we will study how structural variants impact gene expression. Finally, we will functionally explore the disease mechanisms in vivo using zebrafish and in vitro using primary patient cells and induced pluripotent stem cells.Our studies will focus on the origin, structure and impact of structural variation on human disease. The results will directly lead to a higher mutation detection rate in genetic diagnostics. Through a better understanding of disease mechanisms our findings will also assist in the development of novel biomarkers and therapeutic strategies for patients with rare genetic disorders.
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Swedish Research Council
    1 January 2019 - 31 December 2021
  • Zebrafish studies to develop new treatments for drug-resistant leukemia
    Swedish Cancer Society
    1 January 2018
    Acute myeloid leukemia (AML) annually affects more than 300,000 people in the world and in Sweden about 350 new cases are diagnosed each year. The prognosis is poor, many relapse several times in disease and about 75% die within five years. The treatment is based on combining several different chemotherapy drugs where cytarabine (ara-C) is most effective. Many different genetic changes are described at AML and some of these are used clinically as prognostic markers and to find relapses early. However, there are no genetic tests that can be used to tailor cancer treatment. Recently, it has been shown that AML patients with genetic variants in the SAMHD1 gene have a better effect of ara-C. We have established a zebrafish model that will be used to (i) study in vivo how SAMHD1 affects the ara-C effect, (ii) identify chemicals that function in the same way as SAMHD1 and (iii) study if / how SAMHD1 affects cancer development. The goal is to use the zebrafish model to identify chemicals that increase the cells' sensitivity to cytostatics. In the long term, the results can lead to new treatment strategies and better survival for people with AML. This is very relevant to the entire leukemia area. One prerequisite for being able to offer individual-based care and treatment to patients with leukemia is that we first understand how congenital variants affect cancer development and treatment effect.
  • Swedish Research Council
    1 January 2018 - 31 December 2021
  • Swedish Research Council
    1 January 2013 - 31 December 2015
  • Swedish Research Council
    1 September 2012 - 31 August 2013

ԲäԾԲ

  • Överläkare, Klinisk genetik och genomik, Karolinska University Hospital, 2019-
  • Director Clinical Genetics Laboratory, Clinical Genetics and Genomics, Karolinska University Hospital, 2018-
  • Adjungerad Professor, Molekylär medicin och kirurgi, ̽ѡ, 2020-2028
  • Specialist physician, Clinical Genetics and Genomics, Karolinska University Hospital, 2012-2019
  • Resident, Clinical genetics and Genomics, Karolinska University Hospital, 2002-2012

Examina och utbildning

  • Docent, Klinisk genetik, ̽ѡ, 2016
  • Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, ̽ѡ, 2010
  • Läkarexamen, ̽ѡ, 1999

Gästforskning och resestipendier

  • Visiting professor, Pacific Northwest Diabetes Research Institute, 1 month visiting professor, 2024-2024
  • Postdoctoral Researcher, Duke University, 2 year VR funder postdoc, focus on ciliopathies, CNV screening and zebrafish modelling, 2010-2012

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