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Anna Lindstrand

Anna Lindstrand

Adjungerad Professor
E-postadress: anna.lindstrand@ki.se
Telefon: +46852482722
µþ±ð²õö°ì²õ²¹»å°ù±ð²õ²õ: ̽»¨¾«Ñ¡, 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 pÃ¥ KI/KS och leder en forskargrupp som arbetar med translationell forskning i frontlinjen med fokus pÃ¥ underliggande cellulära mekanismer hos de patienter med sällsynta genetiska sjukdomar jag träffar i mitt arbete som specialistläkare i klinisk genetik. Mitt huvudomrÃ¥de är studier av strukturella varianter, hur de uppstÃ¥r 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. VÃ¥ra fynd förs sedan tillbaka till vÃ¥rden i form av ny information om geners funktion och som genetisk rÃ¥dgivning 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: 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: EPILEPSIA. 2025
    Henry OJ; Ygberg S; Barbaro M; Lesko N; Karlsson L; Pena-Perez L; Bavner A; Tohonen V; Lindstrand A; Stodberg T; Wedell A
  • 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: CLINICAL GENETICS. 2025;108(2):199-205
    Stavren-Eriksson E; Hammarsjo A; Lindstrand A; Nordgren A; Grigelioniene G; Pigg MH
  • Article: NEUROLOGY-GENETICS. 2025;11(1):e200238
    Verrecchia L; Alm V; Thonberg H; Lenner F; Paivandy A; Feuk L; Lindstrand A; Nilsson D; Paucar M
  • 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: 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: ACTA OPHTHALMOLOGICA. 2024;103(3):327-338
    De Geer K; Lofgren S; Lindstrand A; Kvarnung M; Bjorck E
  • 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):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: GENOME RESEARCH. 2024;34(11):1763-1773
    Eisfeldt J; Higginbotham EJ; Lenner F; Howe J; Fernandez BA; Lindstrand A; Scherer SW; Feuk L
  • 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: 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: 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: FRONTIERS IN NEUROSCIENCE. 2023;17:1205653
    Vaz R; Edwards S; Duenas-Rey A; Hofmeister W; Lindstrand A
  • 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: PLOS ONE. 2023;18(7):e0289346
    Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; 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: 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: 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 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: 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: 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: 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: FRONTIERS IN GENETICS. 2021;12:803683
    Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand 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: SCIENCE ADVANCES. 2019;5(9):eaax2166
    Guo H; Li Y; Shen L; Wang T; Jia X; Liu L; Xu T; Ou M; Hoekzema K; Wu H; Gillentine MA; Liu C; Ni H; Peng P; Zhao R; Zhang Y; Phornphutkul C; Stegmann APA; Prada CE; Hopkin RJ; Shieh JT; McWalter K; Monaghan KG; van Hasselt PM; van Gassen K; Bai T; Long M; Han L; Quan Y; Chen M; Zhang Y; Li K; Zhang Q; Tan J; Zhu T; Liu Y; Pang N; Peng J; Scott DA; Lalani SR; Azamian M; Mancini GMS; Adams DJ; Kvarnung M; Lindstrand A; Nordgren A; Pevsner J; Osei-Owusu IA; Romano C; Calabrese G; Galesi O; Gecz J; Haan E; Ranells J; Racobaldo M; Nordenskjold M; Madan-Khetarpal S; Sebastian J; Ball S; Zou X; Zhao J; Hu Z; Xia F; Liu P; Rosenfeld JA; de Vries BBA; Bernier RA; Xu Z-QD; Li H; Xie W; Hufnagel RB; Eichler EE; Xia K
  • Article: CLINICAL GENETICS. 2019;96(2):118-125
    Frisk S; Taylan F; Blaszczyk I; Nennesmo I; Anneren G; Herm B; Stattin E-L; Zachariadis V; Lindstrand A; Tesi B; Laurell T; Nordgren A
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(6):e666
    Lundin J; Markljung E; Korberg IB; Hofmeister W; Cao J; Nilsson D; Holmdahl G; Barker G; Anderberg M; Vukojevic V; Lindstrand A; Nordenskjold A
  • Article: NATURE MEDICINE. 2019;25(4):583-590
    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
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):530-541
    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
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2019;7(3):e549
    Karlslatt KS; Pettersson M; Jantti N; Szafranski P; Wester T; Husberg B; Ullberg U; Stankiewicz P; Nordgren A; Lundin J; Lindstrand A; Nordenskjold A
  • Article: BIOLOGICAL PSYCHIATRY. 2019;85(4):287-297
    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
  • Article: PLOS GENETICS. 2019;15(2):e1007858
    Eisfeldt J; Pettersson M; Vezzi F; Wincent J; Kaeller M; Gruselius J; Nilsson D; Lundberg ES; Carvalho CMB; Lindstrand A
  • 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: FRONTIERS IN GENETICS. 2019;10:608
    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
  • Article: PLOS GENETICS. 2018;14(11):e1007780
    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
  • Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2018;812:1-4
    Pettersson M; Eisfeldt J; Lundberg ES; Lundin J; Lindstrand A
  • Article: HUMAN MUTATION. 2018;39(10):1456-1467
    Pettersson M; Vaz R; Hammarsjo A; Eisfeldt J; Carvalho CMB; Hofmeister W; Tham E; Horemuzova E; Voss U; Nishimura G; Klintberg B; Nordgren A; Nilsson D; Grigelioniene G; Lindstrand A
  • Article: HUMAN MUTATION. 2018;39(9):1161-1172
    Kiselev A; Vaz R; Knyazeva A; Khudiakov A; Tarnovskaya S; Liu J; Sergushichev A; Kazakov S; Frishman D; Smolina N; Pervunina T; Jorholt J; Sjoberg G; Vershinina T; Rudenko D; Arner A; Sejersen T; Lindstrand A; Kostareva A
  • Article: HUMAN MUTATION. 2018;39(7):939-946
    Grochowski CM; Gu S; Yuan B; Tcw J; Brennand KJ; Sebat J; Malhotra D; McCarthy S; Rudolph U; Lindstrand A; Chong Z; Levy DL; Lupski JR; Carvalho CMB
  • Article: HUMAN MUTATION. 2018;39(4):495-505
    Hofmeister W; Pettersson M; Kurtoglu D; Armenio M; Eisfeldt J; Papadogiannakis N; Gustavsson P; Lindstrand A
  • Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
    Costantini A; Skarp S; Kampe A; Makitie RE; Pettersson M; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
  • Article: PLOS ONE. 2018;13(3):e0189710
    Eisfeldt J; Nilsson D; Andersson-Assarsson JC; Lindstrand A
  • Article: PLOS ONE. 2018;13(3):e0193928
    Anh NT; Taylan F; Zachariadis V; Ofverholm II; Lindstrand A; Vezzi F; Lotstedt B; Nordenskjold M; Nordgren A; Nilsson D; Barbany G
  • Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
    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
  • Article: SCIENTIFIC REPORTS. 2017;7(1):15585
    Hammarsjo A; Wang Z; Vaz R; Taylan F; Sedghi M; Girisha KM; Chitayat D; Neethukrishna K; Shannon P; Godoy R; Gowrishankar K; Lindstrand A; Nasiri J; Baktashian M; Newton PT; Guo L; Hofmeister W; Pettersson M; Chagin AS; Nishimura G; Yan L; Matsumoto N; Nordgren A; Miyake N; Grigelioniene G; Ikegawa S
  • Article: NATURE NEUROSCIENCE. 2017;20(8):1043-1051
    Geisheker MR; Heymann G; Wang T; Coe BP; Turner TN; Stessman HAF; Hoekzema K; Kvarnung M; Shaw M; Friend K; Liebelt J; Barnett C; Thompson EM; Haan E; Guo H; Anderlid B-M; Nordgren A; Lindstrand A; Vandeweyer G; Alberti A; Avola E; Vinci M; Giusto S; Pramparo T; Pierce K; Nalabolu S; Michaelson JJ; Sedlacek Z; Santen GWE; Peeters H; Hakonarson H; Courchesne E; Romano C; Kooy RF; Bernier RA; Nordenskjold M; Gecz J; Xia K; Zweifel LS; Eichler EE
  • Article: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2017;102(8):3029-3039
    Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Makitie O; Lindstrand A
  • Journal article: F1000 PRIME REPORTS. 2017;6:664
    Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2017;173(5):1396-1399
    Pettersson M; Bergendal B; Norderyd J; Nilsson D; Anderlid B-M; Nordgren A; Lindstrand A
  • Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
    Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
  • Article: NATURE GENETICS. 2017;49(4):515-526
    Stessman HAF; Xiong B; Coe BP; Wang T; Hoekzema K; Fenckova M; Kvarnung M; Gerdts J; Trinh S; Cosemans N; Vives L; Lin J; Turner TN; Santen G; Ruivenkamp C; Kriek M; van Haeringen A; Aten E; Friend K; Liebelt J; Barnett C; Haan E; Shaw M; Gecz J; Anderlid B-M; Nordgren A; Lindstrand A; Schwartz C; Kooy RF; Vandeweyer G; Helsmoortel C; Romano C; Alberti A; Vinci M; Avola E; Giusto S; Courchesne E; Pramparo T; Pierce K; Nalabolu S; Amaral DG; Scheffer IE; Delatycki MB; Lockhart PJ; Hormozdiari F; Harich B; Castells-Nobau A; Xia K; Peeters H; Nordenskjold M; Schenck A; Bernier RA; Eichler EE
  • Article: HUMAN MUTATION. 2017;38(2):180-192
    Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
  • Article: HUMAN GENETICS. 2017;136(2):179-192
    Bramswig NC; Luedecke H-J; Pettersson M; Albrecht B; Bernier RA; Cremer K; Eichler EE; Falkenstein D; Gerdts J; Jansen S; Kuechler A; Kvarnung M; Lindstrand A; Nilsson D; Nordgren A; Pfundt R; Spruijt L; Surowy HM; de Vries BBA; Wieland T; Engels H; Strom TM; Kleefstra T; Wieczorek D
  • Article: F1000RESEARCH. 2017;6:664
    Eisfeldt J; Vezzi F; Olason P; Nilsson D; Lindstrand A
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(5):1005-1014
    Kapferer-Seebacher I; Pepin M; Werner R; Aitman TJ; Nordgren A; Stoiber H; Thielens N; Gaboriaud C; Amberger A; Schossig A; Gruber R; Giunta C; Bamshad M; Bjorck E; Chen C; Chitayat D; Dorschner M; Schmitt-Egenolf M; Hale CJ; Hanna D; Hennies HC; Heiss-Kisielewsky I; Lindstrand A; Lundberg P; Mitchell AL; Nickerson DA; Reinstein E; Rohrbach M; Romani N; Schmuth M; Silver R; Taylan F; Vandersteen A; Vandrovcova J; Weerakkody R; Yang M; Pope FM; Byers PH; Zschocke J
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2016;99(2):318-336
    Lindstrand A; Frangakis S; Carvalho CMB; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
  • Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2016;24(2):198-207
    Tham E; Eklund EA; Hammarsjo A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albage M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
  • Article: HUMAN MOLECULAR GENETICS. 2015;24(18):5069-5078
    Korberg IB; Hofmeister W; Markljung E; Cao J; Nilsson D; Ludwig M; Draaken M; Holmdahl G; Barker G; Reutter H; Vukojevic V; Kockum CC; Lundin J; Lindstrand A; Nordenskjold A
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2015;96(3):507-513
    Tham E; Lindstrand A; Santani A; Malmgren H; Nesbitt A; Dubbs HA; Zackai EH; Parker MJ; Millan F; Rosenbaum K; Wilson GN; Nordgren A
  • Article: JOURNAL OF MEDICAL GENETICS. 2015;52(2):111-122
    Hofmeister W; Nilsson D; Topa A; Anderlid B-M; Darki F; Matsson H; Paez IT; Klingberg T; Samuelsson L; Wirta V; Vezzi F; Kere J; Nordenskjold M; Lundberg ES; Lindstrand A
  • Article: PLOS ONE. 2015;10(7):e0131883
    Viljakainen H; Andersson-Assarsson JC; Armenio M; Pekkinen M; Pettersson M; Valta H; Lipsanen-Nyman M; Makitie O; Lindstrand A
  • Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
    Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Anneren G; Arner M; Pettersson M; Jantti N; Rosberg H-E; Cattini PA; Nordenskjold A; Makitie O; Grigelioniene G; Nordgren A
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2014;94(5):745-754
    Lindstrand A; Davis EE; Carvalho CMB; Pehlivan D; Willer JR; Tsai I-C; Ramanathan S; Zuppan C; Sabo A; Muzny D; Gibbs R; Liu P; Lewis RA; Banin E; Lupski JR; Clark R; Katsanis N
  • Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
    Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
  • Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2013;93(2):357-367
    Hjeij R; Lindstrand A; Francis R; Zariwala MA; Liu X; Li Y; Damerla R; Dougherty GW; Abouhamed M; Olbrich H; Loges NT; Pennekamp P; Davis EE; Carvalho CMB; Pehlivan D; Werner C; Raidt J; Koehler G; Haeffner K; Reyes-Mugica M; Lupski JR; Leigh MW; Rosenfeld M; Morgan LC; Knowles MR; Lo CW; Katsanis N; Omranl H
  • Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
  • Article: CELL. 2012;150(3):533-548
    Chaki M; Airik R; Ghosh AK; Giles RH; Chen R; Slaats GG; Wang H; Hurd TW; Zhou W; Cluckey A; Gee HY; Ramaswami G; Hong C-J; Hamilton BA; Cervenka I; Ganji RS; Bryja V; Arts HH; van Reeuwijk J; Oud MM; Letteboer SJF; Roepman R; Husson H; Ibraghimov-Beskrovnaya O; Yasunaga T; Walz G; Eley L; Sayer JA; Schermer B; Liebau MC; Benzing T; Le Corre S; Drummond I; Janssen S; Allen SJ; Natarajan S; O'Toole JF; Attanasio M; Saunier S; Antignac C; Koenekoop RK; Ren H; Lopez I; Nayir A; Stoetzel C; Dollfus H; Massoudi R; Gleeson JG; Andreoli SP; Doherty DG; Lindstrad A; Golzio C; Katsanis N; Pape L; Abboud EB; Al-Rajhi AA; Lewis RA; Omran H; Lee EY-HP; Wang S; Sekiguchi JM; Saunders R; Johnson CA; Garner E; Vanselow K; Andersen JS; Shlomai J; Nurnberg G; Nurnberg P; Levy S; Smogorzewska A; Otto EA; Hildebrandt F
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012;158A(5):1111-1117
    Kvarnung M; Lindstrand A; Malmgren H; Thastrom A; Jacobson L; Dahl N; Lundin J; Blennow E
  • Article: CLINICAL GENETICS. 2010;77(6):552-562
    Lindstrand A; Schoumans J; Gustavsson P; Hanemaaijer N; Malmgren H; Blennow E
  • Article: JOURNAL OF MEDICAL GENETICS. 2010;47(5):299-311
    Bruno DL; Anderlid B-M; Lindstrand A; van Ravenswaaij-Arts C; Ganesamoorthy D; Lundin J; Martin CL; Douglas J; Nowak C; Adam MP; Kooy RF; Van der Aa N; Reyniers E; Vandeweyer G; Stolte-Dijkstra I; Dijkhuizen T; Yeung A; Delatycki M; Borgstrom B; Thelin L; Cardoso C; van Bon B; Pfundt R; de Vries BBA; Wallin A; Amor DJ; James PA; Slater HR; Schoumans J
  • Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010;152A(5):1233-1243
    Lindstrand A; Malmgren H; Verri A; Benetti E; Eriksson M; Nordgren A; Anderlid B-M; Golovleva I; Schoumans J; Blennow E
  • Article: CLINICAL GENETICS. 2010;77(2):145-154
    Lindstrand A; Malmgren H; Sahlen S; Schoumans J; Nordgren A; Ergander U; Holm E; Anderlid BM; Blennow E
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´¡²Ô²õ³Ùä±ô±ô²Ô¾±²Ô²µ²¹°ù

  • 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, ̽»¨¾«Ñ¡, 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, ̽»¨¾«Ñ¡, 2016
  • Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, ̽»¨¾«Ñ¡, 2010
  • Läkarexamen, ̽»¨¾«Ñ¡, 1999

Handledning

  • Elin Stavrén Eriksson, 2023
  • Esmee ten Berk de Boer, 2023
  • Olivia Henry, 2022
  • Marlene Ek, 2021
  • Kristine Bilgrav Saether, 2021
  • Ida Nordgren, 2021
  • Hillevi Lindelöf, 2020
  • Emma Ehn, 2019
  • Emelie Ponten, 2017
  • Sofia Frisk, Studies of Genetic Mosaicism in Rare Diseases
  • Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing
  • Jakob Schuy, Studies of structural chromosome rearrangments to identify genes involved in congenital brain disorders
  • Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE,
  • Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS
  • Anders Kämpe, Genetic causes and underlying disease mechanisms in early-onset osteoporosis,
  • Karin Salehi, Molecular and clinical studies of intestinal malrotation,
  • Samara Arkani, Molecular and epidemiological studies of bladder exstrophy and epispadias complex,
  • Dominyka Batkovskyte, Genetic studies of rare skeletal disorders : to solve the unsolved,

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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