Sanna Gudmundsson
Biträdande Lektor
E-postadress: sanna.gudmundsson@ki.se
Besöksadress: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postadress: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
Om mig
Vårt mål är att påskynda införandet av precisionsmedicin för genetiska sjukdomar.
Över hälften av alla patienter med sällsynta diagnoser får fortfarande ingen genetisk förklaring till sin sjukdom. Vår forskning använder storskaliga genomik-, transkriptomik- och epigenomikdata för att förbättra tolkningen av genetiska varianter och öka träffsäkerheten i diagnostiken. Särskilt fokus ligger på reducerad penetrans, det vill säga varför vissa individer förblir friska trots att de bär sjukdomsorsakande varianter, med målet att utveckla nya verktyg som möjliggör mer precis diagnostik, prognos och behandling för patienter med sällsynta sjukdomar.
Läs mer/ Read more
Välkommen till vår engelska sida | Welcome to our English page
Utvalda publikationer
- Preprint: MEDRXIV. 2026;MEDRXIVSingh M; Stenton SL; Groopman E; Singer-Berk M; Ma J; Choufani S; O'Heir E; DiTroia S; Osei-Owusu I; Pais L; Lemire G; O'Leary M; Austin-Tse C; Genetti CA; Anderson KN; Wojcik MH; Beggs AH; Neil JE; Lai A; Walsh CA; Jurgens JA; Barry BJ; Engle EC; Donkervoort S; Bönnemann CG; Argilli E; Sherr EH; Kipkemoi P; Bruwer Z; Donald KA; Straub V; Topf A; White SM; Tan TY; Gallacher L; Arts P; Jackson MR; Ha TT; Barnett CP; Byrne AB; Scott HS; Ganesh VS; Rehm HL; Weksberg R; O'Donnell-Luria A; Gudmundsson S
- Article: NATURE COMMUNICATIONS. 2025;16(1):9623Gudmundsson S; Singer-Berk M; Stenton SL; Goodrich JK; Wilson MW; Einson J; Watts NA; Lappalainen T; Rehm HL; MacArthur DG; O'Donnell-Luria A
- Letter: NATURE MEDICINE. 2025;31(6):1730-1732Kampe A; Gudmundsson S; Walsh CP; Lindblad-Toh K; Johansson A; Clareborn A; Ameur A; Edsjo A; Fioretos T; Ehrencrona H; Eriksson D; Fall T; Franks PW; Gyllensten U; Haag M; Hagwall A; Johansson Soller M; Lehtio J; Lu Y; Magnusson PKE; Melen E; Melin B; Michaelsson K; Nordgren A; Nordlund J; Saal LH; Schwenk JM; Sikora P; Sundstrom J; Taylan F; Van Guelpen B; Wadelius M; Wedell A; Wirta V; Ostling P; Jacobsson B; Sjoblom T; Persson B; Rosenquist R; Lindstrand A; Lappalainen T
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2023;110(9):1496-1508Singer-Berk M; Gudmundsson S; Baxter S; Seaby EG; England E; Wood JC; Son RG; Watts NA; Karczewski KJ; Harrison SM; Macarthur DG; Rehm HL; O'Donnell-Luria A
- Review: HUMAN MUTATION. 2022;43(8):1012-1030Gudmundsson S; Singer-Berk M; Watts NA; Phu W; Goodrich JK; Solomonson M; Rehm HL; MacArthur DG; O'Donnell-Luria A
- Corrigendum: NATURE. 2021;597(7874):E3-E4Gudmundsson S; Karczewski KJ; Francioli LC; Tiao G; Cummings BB; Alfoldi J; Wang Q; Collins RL; Laricchia KM; Ganna A; Birnbaum DP; Gauthier LD; Brand H; Solomonson M; Watts NA; Rhodes D; Singer-Berk M; England EM; Seaby EG; Kosmicki JA; Walters RK; Tashman K; Farjoun Y; Banks E; Poterba T; Wang A; Seed C; Whiffin N; Chong JX; Samocha KE; Pierce-Hoffman E; Zappala Z; O'Donnell-Luria AH; Minikel EV; Weisburd B; Lek M; Ware JS; Vittal C; Armean IM; Bergelson L; Cibulskis K; Connolly KM; Covarrubias M; Donnelly S; Ferriera S; Gabriel S; Gentry J; Gupta N; Jeandet T; Kaplan D; Llanwarne C; Munshi R; Novod S; Petrillo N; Roazen D; Ruano-Rubio V; Saltzman A; Schleicher M; Soto J; Tibbetts K; Tolonen C; Wade G; Talkowski ME; Neale BM; Daly MJ; MacArthur DG
Artiklar
- Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32(3):333-341Johansson J; Lideus S; Frykholm C; Gunnarsson C; Mihalic F; Gudmundsson S; Ekvall S; Molin A-M; Pham M; Vihinen M; Lagerstedt-Robinson K; Nordgren A; Jemth P; Ameur A; Anneren G; Wilbe M; Bondeson M-L
- Journal article: NATURE. 2024;625(7993):92-100Chen S; Francioli LC; Goodrich JK; Collins RL; Kanai M; Wang Q; Alfoldi J; Watts NA; Vittal C; Gauthier LD; Poterba T; Wilson MW; Tarasova Y; Phu W; Grant R; Yohannes MT; Koenig Z; Farjoun Y; Banks E; Donnelly S; Gabriel S; Gupta N; Ferriera S; Tolonen C; Novod S; Bergelson L; Roazen D; Ruano-Rubio V; Covarrubias M; Llanwarne C; Petrillo N; Wade G; Jeandet T; Munshi R; Tibbetts K; O'Donnell-Luria A; Solomonson M; Seed C; Martin AR; Talkowski ME; Rehm HL; Daly MJ; Tiao G; Neale BM; MacArthur DG; Karczewski KJ; Abreu M; Aguilar Salinas CA; Ahmad T; Albert CM; Alfoldi J; Ardissino D; Armean IM; Atkinson EG; Atzmon G; Banks E; Barnard J; Baxter SM; Beaugerie L; Benjamin EJ; Benjamin D; Bergelson L; Boehnke M; Bonnycastle LL; Bottinger EP; Bowden DW; Bown MJ; Brand H; Brant S; Brookings T; Bryant S; Calvo SE; Campos H; Chambers JC; Chan JC; Chao KR; Chapman S; Chasman DI; Chen S; Chisholm R; Cho J; Chowdhury R; Chung MK; Chung WK; Cibulskis K; Cohen B; Collins RL; Connolly KM; Correa A; Covarrubias M; Cummings BB; Dabelea D; Danesh J; Darbar D; Darnowsky P; Denny J; Donnelly S; Duggirala R; Dupuis J; Ellinor PT; Elosua R; Emery J; England E; Erdmann J; Esko T; Evangelista E; Farjoun Y; Fatkin D; Ferriera S; Florez J; Francioli LC; Franke A; Fu J; Farkkila M; Gabriel S; Garimella K; Gauthier LD; Gentry J; Getz G; Glahn DC; Glaser B; Glatt SJ; Goldstein D; Gonzalez C; Goodrich JK; Grant R; Groop L; Gudmundsson S; Gupta N; Haessly A; Haiman C; Hall I; Hanis CL; Harms M; Hiltunen M; Holi MM; Hultman CM; Jalas C; Jeandet T; Kallela M; Kanai M; Kaplan D; Kaprio J; Kathiresan S; Kenny EE; Kim B-J; Kim YJ; King D; Kirov G; Koenig Z; Kooner J; Koskinen S; Krumholz HM; Kugathasan S; Kwak SH; Laakso M; Lake N; Langsford T; Laricchia KM; Lehtimaki T; Lek M; Lipscomb E; Llanwarne C; Loos RJF; Lu W; Lubitz SA; Tusie Luna T; Ma RCW; Marcus GM; Marrugat J; Mattila KM; McCarroll S; McCarthy MI; McCauley JL; McGovern D; McPherson R; Meigs JB; Melander O; Metspalu A; Meyers D; Minikel EV; Mitchell BD; Mootha VK; Munshi R; Naheed A; Nazarian S; Nilsson PM; Novod S; O'Donnell-Luria A; O'Donovan MC; Okada Y; Ongur D; Orozco L; Owen MJ; Palmer C; Palmer ND; Palotie A; Park KS; Pato C; Petrillo N; Phu W; Poterba T; Pulver AE; Rader D; Rahman N; Reiner A; Remes AM; Rhodes D; Rich S; Rioux JD; Ripatti S; Roazen D; Roden DM; Rotter JI; Ruano-Rubio V; Sahakian N; Saleheen D; Salomaa V; Saltzman A; Samani NJ; Samocha KE; Sanchis-Juan A; Scharf J; Schleicher M; Schunkert H; Schoenherr S; Seaby EG; Shah SH; Shand M; Sharpe T; Shoemaker MB; Shyong T; Silverman EK; Singer-Berk M; Sklar P; Smith JT; Smith JG; Soininen H; Sokol H; Son RG; Soto J; Spector T; Stevens C; Stitziel NO; Sullivan PF; Suvisaari J; Tai ES; Tarasova Y; Taylor KD; Teo YY; Tibbetts K; Tolonen C; Tsuang M; Tuomi T; Turner D; Tusie-Luna T; Vartiainen E; Vawter M; Vittal C; Wade G; Wang L; Wang Q; Wang A; Ware JS; Watkins H; Watts NA; Weersma RK; Weisburd B; Wessman M; Whiffin N; Wilson MW; Wilson JG; Xavier RJ; Yohannes MT
- Article: SCIENTIFIC REPORTS. 2023;13(1):12856A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing.Johansson J; Lidéus S; Höijer I; Ameur A; Gudmundsson S; Annerén G; Bondeson M-L; Wilbe M
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2022;188(6):1676-1687Johansson J; Frykholm C; Ericson K; Kazamia K; Lindberg A; Mulaiese N; Falck G; Gustafsson P-E; Lideus S; Gudmundsson S; Ameur A; Bondeson M-L; Wilbe M
- Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2021;108(5):840-856Coppens S; Barnard AM; Puusepp S; Pajusalu S; Õunap K; Vargas-Franco D; Bruels CC; Donkervoort S; Pais L; Chao KR; Goodrich JK; England EM; Weisburd B; Ganesh VS; Gudmundsson S; O'Donnell-Luria A; Nigul M; Ilves P; Mohassel P; Siddique T; Milone M; Nicolau S; Maroofian R; Houlden H; Hanna MG; Quinlivan R; Beiraghi Toosi M; Ghayoor Karimiani E; Costagliola S; Deconinck N; Kadhim H; Macke E; Lanpher BC; Klee EW; Łusakowska A; Kostera-Pruszczyk A; Hahn A; Schrank B; Nishino I; Ogasawara M; El Sherif R; Stojkovic T; Nelson I; Bonne G; Cohen E; Boland-Augé A; Deleuze J-F; Meng Y; Töpf A; Vilain C; Pacak CA; Rivera-Zengotita ML; Bönnemann CG; Straub V; Handford PA; Draper I; Walter GA; Kang PB
- Article: GENOME BIOLOGY. 2020;21(1):290Hoijer I; Johansson J; Gudmundsson S; Chin C-S; Bunikis I; Haggqvist S; Emmanouilidou A; Wilbe M; den Hoed M; Bondeson M-L; Feuk L; Gyllensten U; Ameur A
- Article: HUMAN GENETICS. 2020;139(5):575-592Krab LC; Marcos-Alcalde I; Assaf M; Balasubramanian M; Andersen JB; Bisgaard A-M; Fitzpatrick DR; Gudmundsson S; Huisman SA; Kalayci T; Maas SM; Martinez F; McKee S; Menke LA; Mulder PA; Murch OD; Parker M; Pie J; Ramos FJ; Rieubland C; Mokry JAR; Scarano E; Shinawi M; Gomez-Puertas P; Tumer Z; Hennekam RC
- Article: SCIENTIFIC REPORTS. 2019;9(1):10730Gudmundsson S; Wilbe M; Filipek-Gorniok B; Molin A-M; Ekvall S; Johansson J; Allalou A; Gylje H; Kalscheuer VM; Ledin J; Anneren G; Bondeson M-L
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2018;176(6):1405-1410Stattin E-L; Johansson J; Gudmundsson S; Ameur A; Lundberg S; Bondeson M-L; Wilbe M
- Article: CLINICAL GENETICS. 2017;92(5):510-516Bondeson M-L; Ericson K; Gudmundsson S; Ameur A; Ponten F; Wesstrom J; Frykholm C; Wilbe M
- Article: PRENATAL DIAGNOSIS. 2017;37(11):1146-1154Wilbe M; Gudmundsson S; Johansson J; Ameur A; Stattin E-L; Anneren G; Malmgren H; Frykholm C; Bondeson M-L
- Article: HUMAN MOLECULAR GENETICS. 2017;26(6):1070-1077Gudmundsson S; Wilbe M; Ekvall S; Ameur A; Cahill N; Alexandrov LB; Virtanen M; Pigg MH; Vahlquist A; Torma H; Bondeson M-L
- Article: BMC PULMONARY MEDICINE. 2016;16(1):146Matsson H; Soderhall C; Einarsdottir E; Lamontagne M; Gudmundsson S; Backman H; Lindberg A; Ronmark E; Kere J; Sin D; Postma DS; Bosse Y; Lundback B; Klar J
Alla övriga publikationer
- Preprint: BIORXIV. 2024;BIORXIVGudmundsson S; Singer-Berk M; Stenton SL; Goodrich JK; Wilson MW; Einson J; Watts NA; Genome Aggregation Database Consortium; Lappalainen T; Rehm HL; MacArthur DG; O'Donnell-Luria A
- Preprint: BIORXIV : THE PREPRINT SERVER FOR BIOLOGY. 2024Gudmundsson S; Singer-Berk M; Stenton SL; Goodrich JK; Wilson MW; Einson J; Watts NA; Genome Aggregation Database Consortium; Lappalainen T; Rehm HL; MacArthur DG; O'Donnell-Luria A
- Review: HUMAN GENETICS. 2024;143(4):545-549Gudmundsson S; Carlston CM; O'Donnell-Luria A
- Preprint: BIORXIV. 2020Höijer I; Johansson J; Gudmundsson S; Chin C-S; Bunikis I; Häggqvist S; Emmanouilidou A; Wilbe M; Hoed MD; Bondeson M-L; Feuk L; Gyllensten U; Ameur A
- Review: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(6):103526Gudmundsson S; Anneren G; Marcos-Alcalde I; Wilbe M; Melin M; Gomez-Puertas P; Bondeson M-L
Anställningar
- Affiliated Researcher, Broad Institute of MIT and Harvard, 2023-
- Biträdande Lektor, Molekylär medicin och kirurgi, Karolinska Institutet, 2026-2032
- Postdoctoral Fellow (KA Wallenberg Fellowship), Lappalainen-labbet, KTH Kungliga Tekniska högskolan / SciLifeLab, 2023-2026
- Postdoctoral Fellow (KA Wallenberg Fellowship), O'Donnall-Luria Lab, Broad Institute of MIT and Harvard, 2019-2022