Daniel Nilsson
Affiliated to Research
E-mail: daniel.nilsson@ki.se
Visiting address: Karolinska Institutet, BioClinicum J10:20, Visionsgatan 4, 17164 Solna
Postal address: K1 Molekylär medicin och kirurgi, K1 MMK Sällsynta diagnoser, 171 76 Stockholm
About me
- An engineer by training, with PhD studies involving the genomics of
trypanosomatid parasites, mainly in bioinformatics. Post doctoral studies
brought laboratory experience as well as more genomics and bioinformatics
expertise in parasitology and then human infection biology. As a clinical
laboratory scientist and clinical researcher I have studied human genetic
disease - and help diagnose patients with rare genetic conditions.
Being an engineer by training is useful for tackling problems in
modern medicine, where massive amounts of data can be analysed to the
benefit of patients. I seek to deepen our understanding of disorders at the
molecular level, and in doing so further our basic understanding of
ourselves.
Research
- I investigate disease at the molecular level. The journey towards treatment
for the rare genetic disorders begins with a molecular diagnosis. We
understand the molecular cause of some 4000 out of at least 8000 rare genetic
disorders. With a background in large scale genomics and bioinformatics
development, I help improving diagnostics for the known disease genes. While
establishing and improving MPS technology in the clinic, we also explore and
investigate the remaining diseases for answers.
Articles
- Article: GENOME MEDICINE. 2026;18(1):30Lindstrand A; Lagerstedt-Robinson K; Jemt A; Kvarnung M; Ygberg S; Vonlanthen S; Oscarson M; Nilsson D; Lesko N; Mantero AS; Anderlid B-M; Arnell H; Arthur C; Bajalica-Lagercrantz S; Barbaro M; Bergman P; Bjorck E; Picard OB; Bruhn H; Carlsten J; Correia SP; De Geer K; Delgado Vega AM; Ehn E; Eisfeldt J; Ek M; Elvers I; Engvall M; Freyer C; Frisk S; Graff C; Grigelioniene G; Gustafsson P; Hammarsjo A; Helgadottir HT; Hellstrom Pigg M; Henry OJ; Hagglund M; Iwarsson E; Janvid V; Soller MJ; Sundin L; Kuchinskaya E; Kampe A; Leinfelt A; Lieden A; Lindelof H; Lyander A; Malmgren H; Mannila M; Marits P; Naess K; Neethiraj R; Nyren K; Pappas C; Paucar M; Pekkola Pacheco N; Pena Perez L; Pettersson M; Pruisscher P; Rasi C; Renevey A; Rossner S; Sahlin E; Stenund E; Stodberg T; Sundin M; Svard K; Tesi B; Tham E; Thonberg H; Tohonen V; Ueberschar M; Wallander K; Westenius E; Winberg J; Winblad N; Wincent J; Winerdal M; Wredenberg A; Zetterlund A; Zetterstrom RH; Ofverholm I; Nordgren A; Stranneheim H; Wirta V; Wedell A
- Article: BIOINFORMATICS. 2026;42(3):btag086Lenner F; Jemt A; Pena Perez L; Neethiraj R; Pruisscher P; Schmitz D; Renevey A; Corcoran P; Nilsson D; Eisfeldt J; Lindstrand A; Wirta V; Ameur A; Feuk L
- Article: EUROPEAN JOURNAL OF NEUROLOGY. 2026;33(2):e70488Alm V; Sall L; Samuelsson K; Press R; Arnardottir S; Lindstrand A; Niemela V; Terinte L; Nordin F; Svenningsson P; Nilsson D; Verrecchia L; Paucar M
- Article: FRONTIERS IN GENETICS. 2025;16:1580879Malmgren 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: MOVEMENT DISORDERS. 2025;40(2):363-369Chen Z; Alvarez Jerez P; Anderson C; Paucar M; Lee J; Nilsson D; Macpherson H; Scardamaglia A; Montgomery K; Hardy J; Singleton AB; Tucci A; Mathews KD; Fu Y-H; Engvall M; Laffita-Mesa J; Nennesmo I; Wedell A; Ptacek LJ; Blauwendraat C; Gustavsson EK; Svenningsson P; Ryten M; Houlden H
- Article: JOURNAL OF INTERNAL MEDICINE. 2024;296(3):234-248Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Soderhall C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
- Article: PLOS ONE. 2023;18(7):e0289346Saether KB; Nilsson D; Thonberg H; Tham E; Ameur A; Eisfeldt J; Lindstrand A
- Article: FRONTIERS IN GENETICS. 2023;14:1174046Flores 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;14:1170005Ek 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
- Journal article: PATHOLOGY. 2023;55:s19-s20Lindstrand 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
- Article: GENETICS IN MEDICINE. 2022;24(11):2296-2307Lindstrand 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(6):708-716Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
- Article: FRONTIERS IN GENETICS. 2022;12:803683Schuy J; Eisfeldt J; Pettersson M; Shahrokhshahi N; Moslem M; Nilsson D; Dahl N; Shahsavani M; Falk A; Lindstrand A
- Article: NEUROLOGY-GENETICS. 2021;7(6):e628Paucar M; Tesi B; Eshtad S; Eriksson C; Hashim F; Nilsson D; Pourhamidi K; Hellström-Lindberg E; Bryceson YT; Svenningsson P
- Article: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):46Wallander K; Thonberg H; Nilsson D; Tham E
- Article: JOURNAL OF HUMAN GENETICS. 2021;66(10):995-1008Hammarsjo 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: HUMAN GENETICS. 2021;140(5):775-790Eisfeldt J; Pettersson M; Petri A; Nilsson D; Feuk L; Lindstrand A
- Article: GENOME MEDICINE. 2021;13(1):40Stranneheim 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: NEUROGENETICS. 2021;22(1):71-79Mereaux J-L; Firanescu C; Coarelli G; Kvarnung M; Rodrigues R; Pegoraro E; Tazir M; Taithe F; Valter R; Huin V; Lidstrom K; Banneau G; Morais S; Parodi L; Coutelier M; Papin M; Svenningsson P; Azulay J-P; Alonso I; Nilsson D; Brice A; Le Guern E; Press R; Vazza G; Loureiro JL; Goizet C; Durr A; Paucar M; Stevanin G
- Article: PLOS ONE. 2021;16(2):e0245488Wallander K; Eisfeldt J; Lindblad M; Nilsson D; Billiau K; Foroughi H; Nordenskjold M; Lieden A; Tham E
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All other publications
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33:948Pena-Perez L; Jemt A; Eisfeldt J; Stranne-Heim H; Lesko N; Nilsson D; Rasi C; Wedell A; Wirta V; Lindstrand A; Thonberg H
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33:880-881Delgado-Vega AM; Taylan F; Ameur A; Topa A; Jemt A; Kashyap A; Hammarsjo A; Lindstrand A; Sandestig A; Anderlid B-M; Gunnarsson C; Zander CS; Nilsson D; Ekblom E; Stattin E-L; Lenner F; Grigelioniene G; Helgadottir H; Thonberg H; Ehrencrona H; Malmgren H; Cederroth H; Hoijer I; Jonasson J; Eisfeldt J; Klar J; Hallin J; Ekholm K; Cederquist K; Karrman K; Lagerstedt-Robinson K; Feuk L; Lovmar L; Pena-Perez L; Burstedt M; Melin M; Pettersson M; Bondeson ML; Ek M; Barbaro M; Cederroth M; Pekkola-Pacheco N; Lesko N; Ellegard R; Rosenquist R; Ivarsson S; Wirta V; Nordgren A
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33:927-928Thonberg H; Eisfeldt J; Nilsson D; De Geer K; Graff C; Lindstrand A
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2025;33:976Lenner F; Jemt A; Perez LP; Neethiraj R; Pruisscher P; Schmitz D; Corcoran P; Nilsson D; Eisfeldt J; Lindstrand A; Feuk L; Wirta V; Ameur A
- Editorial: NEUROLOGY-GENETICS. 2025;11(1):e200238Verrecchia L; Alm V; Thonberg H; Lenner F; Paivandy A; Feuk L; Lindstrand A; Nilsson D; Paucar M
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1649-1650Neethiraj R; Jemt A; Stranneheim H; Nilsson D; Magnusson M; Rasi C; Wirta V
- Editorial: NATURE GENETICS. 2024;56(11):2287-2294Delgado-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
- Letter: MOVEMENT DISORDERS. 2024;39(6):1077Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Wedell A; Svenningsson P
- Editorial: JOURNAL OF THE NEUROLOGICAL SCIENCES. 2024;460:123020Sennfalt S; Gustavsson P; Malmgren H; Gilland E; Almqvist H; Oscarson M; Engvall M; Bjorkhem I; Nilsson D; Lagerstedt-Robinson K; Svenningsson P; Paucar M
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:523-524Ek 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
- Preprint: MEDRXIV. 2023Paucar M; Nilsson D; Engvall M; Laffita-Mesa J; Söderhäll C; Skorpil M; Halldin C; Fazio P; Lagerstedt-Robinson K; Solders G; Angeria M; Varrone A; Risling M; Jiao H; Nennesmo I; Wedell A; Svenningsson P
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:588Onsbring H; Nilsson D; Stranneheim H; Wirta V
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2023;31:451Lindstrand 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;31:590-591Lindstrand 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
- Meeting abstract: BLOOD. 2022;140:13003-13004Maqbool K; Foroughi-Asl HH; Jeggari AA; Ivanchuk V; Eisfeldt J; Renevey A; Elhami K; Rasi C; Nilsson D; Heinaniemi M; Lohi O; Wirta V
- Preprint: MEDRXIV. 2022Lowther 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
- Corrigendum: HEREDITARY CANCER IN CLINICAL PRACTICE. 2021;19(1):47Wallander K; Thonberg H; Nilsson D; Tham E
- Preprint: AUTHOREA PREPRINTS. 2021Rasi C; Nilsson D; Magnusson M; Lesko N; Lagerstedt-Robinson K; Wedell A; Lindstrand A; Wirta V; Stranneheim H
- Corrigendum: NEUROLOGY-GENETICS. 2021;7(2):e567Paucar M; Agren R; Li T; Lissmats S; Bergendal A; Weinberg J; Nilsson D; Savichetva I; Sahlholm K; Nilsson J; Svenningsson P
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2020;28(SUPPL 1):52-53Lindstrand 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
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Grants
- Swedish Research Council1 January 2015 - 31 December 2018
- Swedish Research Council1 April 2010 - 31 December 2010
Employments
- Affiliated to Research, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2025-2028
Degrees and Education
- Doctor Of Philosophy, Department of Cell and Molecular Biology, Karolinska Institutet, 2006
Supervision
Supervision to doctoral degree
- Kristine Bilgrav Saether, 2021-
- Jesper Eisfeldt, Characterization of structural chromosomal variants by massive parallel sequencing, 2019
- Maria Pettersson, STRUCTURAL GENOMIC VARIATION IN HUMAN DISEASE, 2019
- Anna Hammarsjö, EXPANDING THE GENETIC AND PHENOTYPIC SPECTRUM OF SKELETAL DYSPLASIAS, 2018