Kristiina Tammimies
About me
Research group leader at KIND with a focus on decoding genetic and molecular pathways in neurodevelopmental disorders.
Associate Professor (Docent) in Medical Genetics 2021Current positions/delegations
2024– Director of Doctoral Education, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
2022– Principal Researcher, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden
2016– Research Group Leader, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden2015– Deputy Director of the Center of Neurodevelopmental Disorders at Karolinska Institutet (KIND)
Education and postdoctoral training
2007 MSc, University of Oulu, Finland, Major subject: Genetics2011 PhD, Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, SwedenThesis title: Molecular studies of dyslexia: regulation and function of DYX1C12012–2015 VR International Postdoctoral Fellowship, Host department: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.Placement 2012-2014: The Hospital for Sick Children, University of Toronto, Genomics and Genome Biology. Supervisor: Prof Stephen SchererPlacement 2015: Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Supervisor: Prof Sven BölteSelected awards and grants2024 LifeWatch Foundation Award for Autism Research
2023 The Swedish Research Council Consolidator Grant recipient
2023 StratNeuro Bringing to Consolidator recipient
2022 KI Research Incubator (KIRI) Fellow
2020 Selected as Future Research Leaders program by the Swedish Foundation of Strategic Research
2019 KI Faculty funding senior research position
2018 Starting grant from The Swedish Research Council
2017 The Jeanssons Foundation personal award to particularly outstanding young researchers
2016 Faculty-funded Assistant Professor Position
2016 L'Oréal-UNESCO For Women in Science-prize in Sweden
2015 Ingvar Carlsson Award 6 from the Swedish Foundation of Strategic ResearchCommission of trust:
2024- Department Management Group, Dept. Women's and Children's Health, KI
2024- Director of Doctoral Education, Dept. Women's and Children's Health, KI
2020-2024 Member of the Bioclinicum House Council – Research Theme Women, Children, and Genetics
2019-2020 Elected vice-chair for KI Junior Faculty
2019-2020 Adjunct member of the Committee for Research at Karolinska Institutet
2019 Member of the Faculty Council at Karolinska Institutet
2018 – 2022 COST action EnGagE Psychiatric Genetic testing work group leader
2016- Member of the Doctoral Education Admission Board at the Department
2015- Deputy Director of the Center of Neurodevelopmental Disorders at Karolinska Institutet
Research
My research focuses on understanding the genetic and molecular architecture of neurodevelopmental and neuropsychiatric disorders, how genetic variations affect symptoms within these conditions, and the severity and intervention outcomes in affected individuals. We combine clinical, genetic, and molecular data with other data types using traditional methods and machine-learning algorithms. Additionally, my research group aims to identify molecular and cellular pathways affected by genetic and environmental risk factors of neurodevelopmental disorders using neuronal cells.
Teaching
My expertise in teaching focuses on genetics, functional genomics, and neurodevelopmental disorders, emphasizing the clinical application of genetic and biological knowledge. During my teaching career, I have engaged in teaching and supervision across various academic levels, including specialized courses for healthcare professionals. I have developed and delivered diverse courses, combining theory lectures, practical training, group discussions, and one-on-one supervision for over 200 hours. My teaching portfolio includes subjects such as genome biology, genetics of complex disorders, brain development, and perinatology. I have also co-coordinated and co-organized Ph.D.-level courses, such as Medical Developmental Biology, Brain Development, and Neurodevelopmental Disorders.
In addition to classroom teaching, I have supervised numerous thesis projects and served as an examiner for Master's programs, providing comprehensive evaluations and feedback to students. As described under my research independence and research group, I have or am supervising several Ph.D. students and undergraduate students. Additionally, I have supervised more than 15 master's and bachelor's students who have defended a thesis.
Articles
- Journal article: BIOLOGICAL PSYCHIATRY GLOBAL OPEN SCIENCE. 2025;5(5):100535Yang B; Zaks N; Kajantie E; Persson MSM; Reichenberg A; Gissler M; Risnes K; Kolevzon A; Aden U; Susser E; Persson M; Ludvigsson JF; Tammimies K; Poon LC; Yip B; Doring N; Sandin S; Yin W
- Article: PSYCHIATRIC GENETICS. 2025;35(2):26-36Perry J; Bunnik E; Rietschel M; Bentzen HB; Ingvoldstad Malmgren C; Pawlak J; Chaumette B; Tammimies K; Bialy F; Bizzarri V; Borg I; Coviello D; Crepaz-Keay D; Ivanova E; Mcquillin A; Mezinska S; Johansson Soller M; Suvisaari J; Watson M; Wirgenes K; Wynn SL; Degenhardt F; Schicktanz S
- Article: SCIENTIFIC REPORTS. 2025;15(1):4100Portugal AM; Taylor MJ; Tammimies K; Ronald A; Falck-Ytter T
- Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2024;87:95Zhang Y; Sandin S; Aden UD; Tammimies K
- Article: PLOS ONE. 2024;19(9):e0308224Arora A; Mastropasqua F; Bolte S; Tammimies K
- Article: JCPP ADVANCES. 2024;4(3):e12221Keijser R; Johnels JA; Habbe M; Lichtenstein P; Larsson H; Lundstrom S; Taylor MJ; Tammimies K
- Article: JAMA NETWORK OPEN. 2024;7(8):e2429229Rajagopalan SS; Zhang Y; Yahia A; Tammimies K
- Article: BMJ OPEN. 2024;14(6):e080746Bloomfield M; Lautarescu A; Heraty S; Douglas S; Violland P; Plas R; Ghosh A; van den Bosch K; Eaton E; Absoud M; Battini R; Hinojosa AB; Bolshakova N; Bolte S; Bonanni P; Borg J; Calderoni S; Escalona RC; Castelo-Branco M; Castro-Fornieles J; Caro P; Cliquet F; Danieli A; Delorme R; Elia M; Hempel M; Leblond CS; Madeira N; McAlonan G; Milone R; Molloy CJ; Mouga S; Montiel V; Rodrigues AP; Schaaf CP; Serrano M; Tammimies K; Tye C; Vigevano F; Oliveira G; Mazzone B; O'Neill C; Pender J; Romero V; Tillmann J; Oakley B; Murphy DGM; Gallagher L; Bourgeron T; Chatham C; Charman T
- Article: HUMAN GENETICS. 2024;143(2):169-183Yahia A; Li D; Lejerkrans S; Rajagopalan S; Kalnak N; Tammimies K
- Article: NATURE HUMAN BEHAVIOUR. 2024;8(1):115-124Portugal AM; Viktorsson C; Taylor MJ; Mason L; Tammimies K; Ronald A; Falck-Ytter T
- Article: BIOLOGY OPEN. 2023;12(10):bio060113Mastropasqua F; Oksanen M; Soldini C; Alatar S; Arora A; Ballarino R; Molinari M; Agostini F; Poulet A; Watts M; Rabkina I; Becker M; Li D; Anderlid B-M; Isaksson J; Remnelius KL; Moslem M; Jacob Y; Falk A; Crosetto N; Bienko M; Santini E; Borgkvist A; Bo''lte S; Tammimies K
- Article: NEUROPHARMACOLOGY. 2023;234:109562Swann JR; Heijtz RD; Mayneris-Perxachs J; Arora A; Isaksson J; Bolte S; Tammimies K
- Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2023;66(8):104805Koido K; Malmgren CI; Pojskic L; Almos PZ; Bergen SE; Borg I; Bozina N; Coviello DA; Degenhardt F; Ganoci L; Jensen UB; Durand-Lennad L; Laurent-Levinson C; McQuillin A; Navickas A; Pace NP; Paneque M; Rietschel M; Grigoroiu-Serbanescu M; Soller MJ; Suvisaari J; Utkus A; Van Assche E; Vissouze L; Zuckerman S; Chaumette B; Tammimies K
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2023;11(8):e2191Jonsson L; Martin J; Lichtenstein P; Magnusson PKE; Lundstrom S; Westberg L; Tammimies K
- Article: INTELLIGENCE. 2023;99:101771Bussu G; Taylor M; Tammimies K; Ronald A; Falck-Ytter T
- Article: DEVELOPMENTAL SCIENCE. 2023;26(4):e13347Viktorsson C; Lindskog M; Li D; Tammimies K; Taylor MJ; Ronald A; Falck-Ytter T
- Article: SCIENTIFIC REPORTS. 2023;13(1):10519Arora A; Becker M; Marques C; Oksanen M; Li D; Mastropasqua F; Watts ME; Arora M; Falk A; Daub CO; Lanekoff I; Tammimies K
- Article: BMC PSYCHIATRY. 2023;23(1):442Mataix-Cols D; Fernandez de la Cruz L; De Schipper E; Kuja-Halkola R; Bulik CM; Crowley JJ; Neufeld J; Rueck C; Tammimies K; Lichtenstein P; Boelte S; Beucke JC
- Article: BMC BIOLOGY. 2023;21(1):127Watts ME; Oksanen M; Lejerkrans S; Mastropasqua F; Gorospe M; Tammimies K
- Article: JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY. 2023;64(2):311-319Viktorsson C; Portugal AM; Li D; Rudling M; Sanchez MS; Tammimies K; Taylor MJ; Ronald A; Falck-Ytter T
- Article: BIOMOLECULAR INTERACTIONS, PT A. 2023;176:27-41Coschiera A; Watts ME; Kere J; Tammimies K; Swoboda P
- Article: NATURE COMMUNICATIONS. 2022;13(1):6463Chan AJS; Engchuan W; Reuter MS; Wang Z; Thiruvahindrapuram B; Trost B; Nalpathamkalam T; Negrijn C; Lamoureux S; Pellecchia G; Patel RV; Sung WWL; MacDonald JR; Howe JL; Vorstman J; Sondheimer N; Takahashi N; Miles JH; Anagnostou E; Tammimies K; Zarrei M; Merico D; Stavropoulos DJ; Yuen RKC; Fernandez BA; Scherer SW
- Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2022;63:e271-e272Malmgren CI; Chaumette B; Pojskic L; Koido K; Soller MJ; Tammimies K
- Article: AUTISM. 2022;26(7):1795-1804Hellquist A; Tammimies K
- Article: JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY. 2022;63(9):1068-1077Portugal AM; Taylor MJ; Viktorsson C; Nystrom P; Li D; Tammimies K; Ronald A; Falck-Ytter T
- Article: NATURE GENETICS. 2022;54(9):1293-1304Warrier V; Zhang X; Reed P; Havdahl A; Moore TM; Cliquet F; Leblond CS; Rolland T; Rosengren A; Rowitch DH; Hurles ME; Geschwind DH; Borglum AD; Robinson EB; Grove J; Martin HC; Bourgeron T; Baron-Cohen S
- Article: MOLECULAR PSYCHIATRY. 2022;27(4):2114-2125Sha Z; van Rooij D; Anagnostou E; Arango C; Auzias G; Behrmann M; Bernhardt B; Bolte S; Busatto GF; Calderoni S; Calvo R; Daly E; Deruelle C; Duan M; Duran FLS; Durston S; Ecker C; Ehrlich S; Fair D; Fedor J; Fitzgerald J; Floris DL; Franke B; Freitag CM; Gallagher L; Glahn DC; Haar S; Hoekstra L; Jahanshad N; Jalbrzikowski M; Janssen J; King JA; Lazaro L; Luna B; McGrath J; Medland SE; Muratori F; Murphy DGM; Neufeld J; O'Hearn K; Oranje B; Parellada M; Pariente JC; Postema MC; Remnelius KL; Retico A; Rosa PGP; Rubia K; Shook D; Tammimies K; Taylor MJ; Tosetti M; Wallace GL; Zhou F; Thompson PM; Fisher SE; Buitelaar JK; Francks C
- Article: AUTISM RESEARCH. 2022;15(3):434-446Li D; Choque Olsson N; Becker M; Arora A; Jiao H; Norgren N; Jonsson U; Bolte S; Tammimies K
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2021;24(4):217-227Falck-Ytter T; Hamrefors L; Sanches MS; Portugal AM; Taylor M; Li D; Viktorsson C; Hardiansyah I; Myers L; Westberg L; Bolte S; Tammimies K; Ronald A
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2021;24(3):168-175Hardiansyah I; Hamrefors L; Siqueiros M; Falck-Ytter T; Tammimies K
- Article: SCIENTIFIC REPORTS. 2020;10(1):22417Myers L; Ho M-L; Cauvet E; Lundin K; Carlsson T; Kuja-Halkola R; Tammimies K; Bolte S
- Article: NPJ GENOMIC MEDICINE. 2020;5(1):45Li D; Choque-Olsson N; Jiao H; Norgren N; Jonsson U; Bolte S; Tammimies K
- Article: TRANSLATIONAL PSYCHIATRY. 2020;10(1):312Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bolte S; Tammimies K
- Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2020;117(33):20127-20138Susanto E; Navarro AM; Zhou L; Sundstrom A; van Bree N; Stantic M; Moslem M; Tailor J; Rietdijk J; Zubillaga V; Huebner J-M; Weishaupt H; Wolfsberger J; Alafuzoff I; Nordgren A; Magnaldo T; Siesjo P; Johnsen JI; Kool M; Tammimies K; Darabi A; Swartling FJ; Falk A; Wilhelm M
- Article: BEHAVIOR GENETICS. 2020;50(4):233-246Pan P-Y; Tammimies K; Bolte S
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020;182(5):1177-1189Myers L; Anderlid B-M; Nordgren A; Lundin K; Kuja-Halkola R; Tammimies K; Bolte S
- Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2020;8(1):e1013Myers L; Blyth M; Moradkhani K; Hranilovic D; Polesie S; Isaksson J; Nordgren A; Bucan M; Vincent M; Bolte S; Anderlid B-M; Tammimies K
- Article: NATURE COMMUNICATIONS. 2019;10(1):5519D'Abate L; Walker S; Yuen RKC; Tammimies K; Buchanan JA; Davies RW; Thiruvahindrapuram B; Wei J; Brian J; Bryson SE; Dobkins K; Howe J; Landa R; Leef J; Messinger D; Ozonoff S; Smith IM; Stone WL; Warren ZE; Young G; Zwaigenbaum L; Scherer SW
- Article: JOURNAL OF NEUROENDOCRINOLOGY. 2019;31(11):e12803Gotby VO; Soder O; Frisen L; Serlachius E; Bolte S; Almqvist C; Larsson H; Lichtenstein P; Tammimies K
- Article: TRANSLATIONAL PSYCHIATRY. 2019;9(1):238Austin C; Curtin P; Curtin A; Gennings C; Arora M; Tammimies K; Isaksson J; Willfors C; Bolte S
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2019;180(6):341-350Martin J; Tammimies K; Karlsson R; Lu Y; Larsson H; Lichtenstein P; Magnusson PKE
- Article: SCIENTIFIC REPORTS. 2019;9(1):9810Tammimies K; Li D; Rabkina I; Stamouli S; Becker M; Nicolaou V; Berggren S; Coco C; Falkmer T; Jonsson U; Choque-Olsson N; Bolte S
- Article: EUROPEAN CHILD & ADOLESCENT PSYCHIATRY. 2019;28(2):189-201Jonsson U; Olsson NC; Coco C; Gorling A; Flygare O; Rade A; Chen Q; Berggren S; Tammimies K; Bolte S
- Article: CLINICAL GENETICS. 2018;94(3-4):313-320Kalnak N; Stamouli S; Peyrard-Janvid M; Rabkina I; Becker M; Klingberg T; Kere J; Forssberg H; Tammimies K
- Article: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS. 2018;48(9):3244-3252Myers L; van't Westeinde A; Kuja-Halkola R; Tammimies K; Bolte S
- Article: BMC GENOMICS. 2018;19(1):432Tervaniemi MH; Katayama S; Skoog T; Siitonen HA; Vuola J; Nuutila K; Tammimies K; Suomela S; Kankuri E; Kere J; Elomaa O
- Article: SCIENCE ADVANCES. 2018;4(5):eaat1293Curtin P; Austin C; Curtin A; Gennings C; Arora M; Tammimies K; Willfors C; Berggren S; Siper P; Rai D; Meyering K; Kolevzon A; Mollon J; David AS; Lewis G; Zammit S; Heilbrun L; Palmer RF; Wright RO; Bolte S; Reichenberg A
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2018;21(1):1-11Stamouli S; Anderlid B-M; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer SW; Lichtenstein P; Tammimies K; Bolte S
- Article: CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH. 2017;11:57Myers L; Anderlid B-M; Nordgren A; Willfors C; Kuja-Halkola R; Tammimies K; Bolte S
- Article: PLOS ONE. 2017;12(11):e0187049Curtin P; Curtin A; Austin C; Gennings C; Tammimies K; Bolte S; Arora M
- Article: JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY. 2017;56(7):585-592Olsson NC; Flygare O; Coco C; Gorling A; Rade A; Chen Q; Lindstedt K; Berggren S; Serlachius E; Jonsson U; Tammimies K; KjeIlin L; Bolte S
- Article: NATURE COMMUNICATIONS. 2017;8:15493Arora M; Reichenberg A; Willfors C; Austin C; Gennings C; Berggren S; Lichtenstein P; Anckarsater H; Tammimies K; Bolte S
- Article: TRANSLATIONAL PSYCHIATRY. 2017;7(1):e1014Willfors C; Carlsson T; Anderlid B-M; Nordgren A; Kostrzewa E; Berggren S; Ronald A; Kuja-Halkola R; Tammimies K; Bolte S
- Article: STEM CELL RESEARCH. 2017;18:22-25Uhlin E; Ronnholm H; Day K; Kele M; Tammimies K; Bolte S; Falk A
- Article: FASEB JOURNAL. 2016;30(10):3578-3587Tammimies K; Bieder A; Lauter G; Sugiaman-Trapman D; Torchet R; Hokkanen M-E; Burghoorn J; Castren E; Kere J; Tapia-Paez I; Swoboda P
- Article: NPJ GENOMIC MEDICINE. 2016;1:160271-1602710Yuen RKC; Merico D; Cao H; Pellecchia G; Alipanahi B; Thiruvahindrapuram B; Tong X; Sun Y; Cao D; Zhang T; Wu X; Jin X; Zhou Z; Liu X; Nalpathamkalam T; Walker S; Howe JL; Wang Z; MacDonald JR; Chan AJS; D'Abate L; Deneault E; Siu MT; Tammimies K; Uddin M; Zarrei M; Wang M; Li Y; Wang J; Wang J; Yang H; Bookman M; Bingham J; Gross SS; Loy D; Pletcher M; Marshall CR; Anagnostou E; Zwaigenbaum L; Weksberg R; Fernandez BA; Roberts W; Szatmari P; Glazer D; Frey BJ; Ring RH; Xu X; Scherer SW
- Article: SCIENTIFIC REPORTS. 2016;6:28663Uddin M; Pellecchia G; Thiruvahindrapuram B; D'Abate L; Merico D; Chan A; Zarrei M; Tammimies K; Walker S; Gazzellone MJ; Nalpathamkalam T; Yuen RKC; Devriendt K; Mathonnet G; Lemyre E; Nizard S; Shago M; Joseph-George AM; Noor A; Carter MT; Yoon G; Kannu P; Tihy F; Thorland EC; Marshall CR; Buchanan JA; Speevak M; Stavropoulos DJ; Scherer SW
- Journal article: TRANSLATIONAL DEVELOPMENTAL PSYCHIATRY. 2016;4(0):30556Hasslinger J; Sirviö S; Berggren S; Myers L; Flygare O; Tammimies K; Bölte S
- Journal article: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE. 2015;47:76Tammimies K; Fernandez BA; Walker S; Thiruvahindrapuram B; Kaur G; Lionel AC; Roberts W; Weksberg R; Howe JL; Uddin M; Yuen RKC; Wang Z; Szatmari P; Whitten K; Vardy C; Crosbie V; Luscombe S; Doyle T; Stuckless S; Merico D; Marshall CR; Scherer SW
- Article: JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 2015;314(9):895-903Tammimies K; Marshall CR; Walker S; Kaur G; Thiruvahindrapuram B; Lionel AC; Yuen RKC; Uddin M; Roberts W; Weksberg R; Woodbury-Smith M; Zwaigenbaum L; Anagnostou E; Wang Z; Wei J; Howe JL; Gazzellone MJ; Lau L; Sung WWL; Whitten K; Vardy C; Crosbie V; Tsang B; D'Abate L; Tong WWL; Luscombe S; Doyle T; Carter MT; Szatmari P; Stuckless S; Merico D; Stavropoulos DJ; Scherer SW; Fernandez BA
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS. 2015;168(4):258-264Liu Y; Zhang Y; Zhao D; Dong R; Yang X; Tammimies K; Uddin M; Scherer SW; Gai Z
- Article: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2015;167(6):1381-1385Liu Y; Zhao D; Dong R; Yang X; Zhang Y; Tammimies K; Uddin M; Scherer SW; Gai Z
- Article: NATURE MEDICINE. 2015;21(2):185-191Yuen RKC; Thiruvahindrapuram B; Merico D; Walker S; Tammimies K; Hoang N; Chrysler C; Nalpathamkalam T; Pellecchia G; Liu Y; Gazzellone MJ; D'Abate L; Deneault E; Howe JL; Liu RSC; Thompson A; Zarrei M; Uddin M; Marshall CR; Ring RH; Zwaigenbaum L; Ray PN; Weksberg R; Carter MT; Fernandez BA; Roberts W; Szatmari P; Scherer SW
- Article: HUMAN GENETICS. 2015;134(2):191-201Woodbury-Smith M; Paterson AD; Thiruvahindrapduram B; Lionel AC; Marshall CR; Merico D; Fernandez BA; Duku E; Sutcliffe JS; O'Conner I; Chrysler C; Thompson A; Kellam B; Tammimies K; Walker S; Yuen RKC; Uddin M; Howe JL; Parlier M; Whitten K; Szatmari P; Vieland VJ; Piven J; Scherer SW
- Journal article: TRANSLATIONAL DEVELOPMENTAL PSYCHIATRY. 2015;3(0):29825Olsson NC; Tammimies K; Bölte S
- Journal article: CILIA. 2015;4(Suppl 1):p56Lauter G; Tammimies K; Bieder A; Torchet R; Matsson H; Peyrard M; Burghoorn J; Castren E; Kere J; Tapia-Páez I; Swoboda P
- Article: NATURE. 2014;515(7526):209-215De Rubeis S; He X; Goldberg AP; Poultney CS; Samocha K; Cicek AE; Kou Y; Liu L; Fromer M; Walker S; Singh T; Klei L; Kosmicki J; Fu S-C; Aleksic B; Biscaldi M; Bolton PF; Brownfeld JM; Cai J; Campbell NG; Carracedo A; Chahrour MH; Chiocchetti AG; Coon H; Crawford EL; Crooks L; Curran SR; Dawson G; Duketis E; Fernandez BA; Gallagher L; Geller E; Guter SJ; Hill RS; Ionita-Laza I; Gonzalez PJ; Kilpinen H; Klauck SM; Kolevzon A; Lee I; Lei J; Lehtimaeki T; Lin C-F; Ma'ayan A; Marshall CR; McInnes AL; Neale B; Owen MJ; Ozaki N; Parellada M; Parr JR; Purcell S; Puura K; Rajagopalan D; Rehnstrom K; Reichenberg A; Sabo A; Sachse M; Sanders SJ; Schafer C; Schulte-Ruether M; Skuse D; Stevens C; Szatmari P; Tammimies K; Valladares O; Voran A; Wang L-S; Weiss LA; Willsey AJ; Yu TW; Yuen RKC; Cook EH; Freitag CM; Gill M; Hultman CM; Lehner T; Palotie A; Schellenberg GD; Skiar P; State MW; Sutcliffe JS; Walsh CA; Scherer SW; Zwick ME; Barrett JC; Cutler DJ; Roeder K; Devlin B; Daly MJ; Buxbaum JD
- Journal article: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2014;24:s124Marshall CR; Tammimies K; Walker S; Yuen RKC; Merico D; Scherer SW
- Article: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 2014;6(1):34Gazzellone MJ; Zhou X; Lionel AC; Uddin M; Thiruvahindrapuram B; Liang S; Sun C; Wang J; Zou M; Tammimies K; Walker S; Selvanayagam T; Wei J; Wang Z; Wu L; Scherer SW
- Article: NATURE GENETICS. 2014;46(7):742-747Uddin M; Tammimies K; Pellecchia G; Alipanahi B; Hui P; Wang Z; Pinto D; Lau L; Nalpathamkalam T; Marshall CR; Blencowe BJ; Frey BJ; Merico D; Yuen RKC; Scherer SW
- Article: TWIN RESEARCH AND HUMAN GENETICS. 2014;17(3):164-176Bölte S; Willfors C; Berggren S; Norberg J; Poltrago L; Mevel K; Coco C; Fransson P; Borg J; Sitnikov R; Toro R; Tammimies K; Anderlid B-M; Nordgren A; Falk A; Meyer U; Kere J; Landén M; Dalman C; Ronald A; Anckarsäter H; Lichtenstein P
- Article: HUMAN MOLECULAR GENETICS. 2014;23(10):2752-2768Lionel AC; Tammimies K; Vaags AK; Rosenfeld JA; Ahn JW; Merico D; Noor A; Runke CK; Pillalamarri VK; Carter MT; Gazzellone MJ; Thiruvahindrapuram B; Fagerberg C; Laulund LW; Pellecchia G; Lamoureux S; Deshpande C; Clayton-Smith J; White AC; Leather S; Trounce J; Bedford HM; Hatchwell E; Eis PS; Yuen RKC; Walker S; Uddin M; Geraghty MT; Nikkel SM; Tomiak EM; Fernandez BA; Soreni N; Crosbie J; Arnold PD; Schachar RJ; Roberts W; Paterson AD; So J; Szatmari P; Chrysler C; Woodbury-Smith M; Lowry RB; Zwaigenbaum L; Mandyam D; Wei J; MacDonald JR; Howe JL; Nalpathamkalam T; Wang Z; Tolson D; Cobb DS; Wilks TM; Sorensen MJ; Bader PI; An Y; Wu B-L; Musumeci SA; Romano C; Postorivo D; Nardone AM; Della Monica M; Scarano G; Zoccante L; Novara F; Zuffardi O; Ciccone R; Antona V; Carella M; Zelante L; Cavalli P; Poggiani C; Cavallari U; Argiropoulos B; Chernos J; Brasch-Andersen C; Speevak M; Fichera M; Ogilvie CM; Shen Y; Hodge JC; Talkowski ME; Stavropoulos DJ; Marshall CR; Scherer SW
- Article: BIOLOGICAL PSYCHIATRY. 2013;73(6):583-590Tammimies K; Vitezic M; Matsson H; Le Guyader S; Burglin TR; Ohman T; Stromblad S; Daub CO; Nyman TA; Kere J; Tapia-Paez I
- Article: MOLECULAR ENDOCRINOLOGY. 2012;26(4):619-629Tammimies K; Tapia-Paez I; Rueegg J; Rosin G; Kere J; Gustafsson J-A; Nalvarte I
- Article: PLOS ONE. 2011;6(6):e20580Massinen S; Hokkanen M-E; Matsson H; Tammimies K; Tapia-Paez I; Dahlstrom-Heuser V; Kuja-Panula J; Burghoorn J; Jeppsson KE; Swoboda P; Peyrard-Janvid M; Toftgard R; Castren E; Kere J
- Article: BEHAVIOR GENETICS. 2011;41(1):134-140Matsson H; Tammimies K; Zucchelli M; Anthoni H; Onkamo P; Nopola-Hemmi J; Lyytinen H; Leppanen PHT; Neuhoff N; Warnke A; Schulte-Koerne G; Schumacher J; Noethen MM; Kere J; Peyrard-Janvid M
- Article: HUMAN MOLECULAR GENETICS. 2009;18(15):2802-2812Massinen S; Tammimies K; Tapia-Paez I; Matsson H; Hokkanen M-E; Soderberg O; Landegren U; Castren E; Gustafsson J-A; Treuter E; Kere J
- Article: FASEB JOURNAL. 2008;22(8):3001-3009Tapia-Paez I; Tammimies K; Massinen S; Roy AL; Kere J
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All other publications
- Preprint: MEDRXIV. 2025Arora A; Vacy K; Marques C; Degeratu M-O; Mastropasqua F; Humphrey J; Ye X; Oksanen M; the Barwon Infant Study Investigator Group; Vuillermin P; Ponsonby A-L; Lanekoff I; Tammimies K
- Preprint: BIORXIV. 2025Oksanen M; Mastropasqua F; Mazan-Mamczarz K; Martindale J; Ye X; Arora A; Banskota N; Gorospe M; Tammimies K
- Corrigendum: PLOS ONE. 2024;19(12):e0315559Arora A; Mastropasqua F; Bolte S; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1463Zhang Y; Yahia A; Sandin S; Aden U; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1834Chaumette B; Bentzen HB; Bialy F; Bizzarri V; Borg I; Bunnik EM; Crepaz-Keay D; Coviello D; Handa A; Soller MJ; McQuillin A; Perry J; Rietschel M; Tammimies K; Schicktanz S; Watson M; Wynn SL; Ingvoldstad C
- Preprint: MEDRXIV. 2024;MEDRXIVZhang Y; Yahia A; Sandin S; Åden U; Tammimies K
- Review: JOURNAL OF NEURODEVELOPMENTAL DISORDERS. 2024;16(1):63Rajagopalan SS; Tammimies K
- Book chapter: HANDBOOK OF THE BIOLOGY AND PATHOLOGY OF MENTAL DISORDERS. 2024;p. 1-22Doagu F; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1463Zhang Y; Yahia A; Sandin S; Aden U; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2024;32:1834Chaumette B; Bentzen HB; Bialy F; Bizzarri V; Borg I; Bunnik EM; Crepaz-Keay D; Coviello D; Handa A; Soller MJ; McQuillin A; Perry J; Rietschel M; Tammimies K; Schicktanz S; Watson M; Wynn SL; Ingvoldstad C
- Preprint: OSF PREPRINTS. 2023Portugal AM; Taylor M; Tammimies K; Ronald A; Falck-Ytter T
- Preprint: MEDRXIV. 2023Bloomfield M; Lautarescu A; Heraty S; Douglas S; Violland P; Plas R; Ghosh A; Van den Bosch K; Eaton E; Absoud M; Battini R; Blázquez Hinojosa A; Bolshakova N; Bolte S; Bonanni P; Borg J; Calderoni S; Calvo Escalona R; Castelo-Branco M; Castro-Fornieles J; Caro P; Danieli A; Delorme R; Elia M; Hempel M; Madeira N; McAlonan G; Milone R; Molloy CJ; Mouga S; Montiel V; Pina Rodrigues A; Schaaf CP; Serrano M; Tammimies K; Tye C; Vigevano F; Oliveira G; Mazzone B; O’Neill C; Romero V; Tillmann J; Oakley B; Murphy D; Gallagher L; Bourgeron T; Chatham C; Charman T
- Conference publication: 2023Yahia A; Li D; Lejerkrans S; Habbe M; Kalnak N; Tammimies K
- Conference publication: 2023Tammimies K
- Preprint: RESEARCH SQUARE. 2023Yahia A; Li D; Lejerkrans S; Rajagopalan S; Kalnak N; Tammimies K
- Preprint: RES SQ. 2023;RES SQMataix-Cols D; de la Cruz LF; de Schipper E; Kuja-Halkola R; Bulik CM; Crowley JJ; Neufeld J; Rück C; Tammimies K; Lichtenstein P; Bölte S; Beucke JC
- Preprint: MEDRXIV. 2023Arora A; Mastropasqua F; Bölte S; Tammimies K
- Preprint: BIORXIV. 2022Watts M; Oksanen M; Lejerkrans S; Mastropasqua F; Gorospe M; Tammimies K
- Conference publication: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2022;63:E314Koido K; Ingvoldstad-Malmgren C; Pojskic L; Soller MJ; Van Assche E; Borg I; Jensen UB; Coviello D; Rietschel M; Grigoroiu-Serbanescu M; McQuillin A; Degenhardt F; Tammimies K; Chaumette B
- Preprint: BIORXIV. 2022Mastropasqua F; Oksanen M; Soldini C; Alatar S; Arora A; Ballarino R; Molinari M; Agostini F; Poulet A; Watts M; Rabkina I; Becker M; Li D; Anderlid B-M; Isaksson J; Remnelius KL; Moslem M; Jacob Y; Falk A; Crosetto N; Bienko M; Santini E; Borgkvist A; Bölte S; Tammimies K
- Preprint: BIORXIV. 2022Arora A; Becker M; Marques C; Oksanen M; Li D; Mastropasqua F; Watts ME; Arora M; Falk A; Daub CO; Lanekoff I; Tammimies K
- Preprint: OSF PREPRINTS. 2022Portugal AM; Viktorsson C; Taylor M; Mason L; Tammimies K; Ronald A; Falck-Ytter T
- Conference publication: BEHAVIOR GENETICS. 2021;51(6):734-735Portugal AM; Taylor MJ; Nystrom P; Viktorsson C; Li D; Tammimies K; Ronald A; Falck-Ytter T
- Preprint: MEDRXIV. 2021Chan AJS; Engchuan W; Reuter M; Wang Z; Thiruvahindrapuram B; Trost B; Nalpathamkalam T; Negrijn C; Lamoureux S; Pellecchia G; Patel R; Sung WWL; MacDonald J; Howe J; Vorstman J; Sondheimer N; Takahashi N; Miles J; Anagnostou E; Tammimies K; Zarrei M; Merico D; Stavropoulos D; Yuen RKC; Fernandez B; Scherer S
- Preprint: BIORXIV. 2021Viktorsson C; Portugal AM; Li D; Rudling M; Sanchez MS; Tammimies K; Taylor M; Ronald A; Falck-Ytter T
- Preprint: MEDRXIV. 2021Li D; Olsson NC; Becker M; Arora A; Jiao H; Norgren N; Jonsson U; Bölte S; Tammimies K
- Preprint: BIORXIV. 2021Sha Z; van Rooij D; Anagnostou E; Arango C; Auzias G; Behrmann M; Bernhardt B; Bolte S; Busatto G; Calderoni S; Calvo R; Daly E; Deruelle C; Duan M; Souza Duran FL; Durston S; Ecker C; Ehrlich S; Fair D; Fedor J; Fitzgerald J; Floris D; Franke B; Freitag C; Gallagher L; Glahn D; Haar S; Hoekstra L; Jahanshad N; Jalbrzikowski M; Janssen J; King J; Lazaro L; Luna B; McGrath J; Medland S; Molloy C; Muratori F; Murphy DGM; Neufeld J; O’Hearn K; Oranje B; Parellada M; Pariente J; Postema M; Remnelius KL; Retico A; Penteado Rosa PG; Rubia K; Shook D; Tammimies K; Taylor M; Tosetti M; Wallace G; Zhou F; Thompson P; Fisher S; Buitelaar J; Francks C
- Preprint: BIORXIV. 2021Falck-Ytter T; Hamrefors L; Sanchez MS; Portugal AM; Taylor M; Li D; Viktorsson C; Hardiansyah I; Myers L; Westberg L; Bölte S; Tammimies K; Ronald A
- Conference publication: EUROPEAN PSYCHIATRY. 2021;64:S49-S50Coviello D; Bizzarri V; Nobili L; Amore M; Tammimies K
- Preprint: MEDRXIV. 2019Li D; Choque-Olsson N; Jiao H; Norgren N; Jonsson U; Bölte S; Tammimies K
- Preprint: BIORXIV. 2019Becker M; Mastropasqua F; Reising JP; Maier S; Ho M-L; Rabkina I; Li D; Neufeld J; Ballenberger L; Myers L; Moritz V; Kele M; Wincent J; Willfors C; Sitnikov R; Herlenius E; Anderlid B-M; Falk A; Bölte S; Tammimies K
- Editorial comment: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS. 2019;107:3-5Zhang D; Bedogni F; Boterberg S; Camfield C; Camfield P; Charman T; Curfs L; Einspieler C; Esposito G; De Filippis B; Goin-Kochel RP; Hoeglinger GU; Holzinger D; Iosif A-M; Lancioni GE; Landsberger N; Laviola G; Marco EM; Mueller M; Neul JL; Nielsen-Saines K; Nordahl-Hansen A; O'Reilly MF; Ozonoff S; Poustka L; Roeyers H; Rankovic M; Sigafoos J; Tammimies K; Townend GS; Zwaigenbaum L; Zweckstetter M; Bolte S; Marschik PB
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1423Becker M; Mastropasqua F; Reising JP; Rabkina I; Ballenberger L; Kele M; Willfors C; Herlenius E; Bolte S; Anderlid BM; Falk A; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1437Mastropasqua F; Rabkina I; Becker M; Anderlid B; Bolte S; Falk A; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:1421-1422Li D; Rabkina I; Stamouli S; Jiao H; Becker M; Jonsson U; Choque-Olsson N; Bolte S; Tammimies K
- Conference publication: EUROPEAN JOURNAL OF HUMAN GENETICS. 2019;27:679-680Degenhardt F; Andreassen O; Borg I; Borglum A; Cichon S; Coviello D; Czerski PM; Demontis D; Foley C; Hennah W; Koido K; Lopez LM; Mattheisen M; McGhee KA; McQuillin A; Miu A; Mors O; Pojskic L; Popovska-Jankovic K; Tammimies K
- Review: NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS. 2019;102:208-220Tammimies K
- Conference publication: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2019;29:1120Li D; Rabkina I; Stamouli S; Becker M; Jonsson U; Choque-Olsson N; Bolte S; Tammimies K
- Conference publication: EUROPEAN NEUROPSYCHOPHARMACOLOGY. 2019;29:1022COPY NUMBER VARIATION AND NEURODEVELOPMENTAL PROBLEMS IN FEMALES AND MALES IN THE GENERAL POPULATIONMartin J; Tammimies K; Karlsson R; Yi L; Larsson H; Lichtenstein P; Magnusson P
- Conference publication: BEHAVIOR GENETICS. 2018;48(6):493Copy number variation and neurodevelopmental problems in females and males in the general populationMartin J; Tammimies K; Karlsson R; Lu Y; Larsson H; Lichtenstein P; Magnusson P
- Preprint: BIORXIV. 2018Tammimies K; Li D; Rabkina I; Stamouli S; Becker M; Nicolaou V; Berggren S; Coco C; Falkmer T; Jonsson U; Choque-Olsson N; Bölte S
- Letter: MOLECULAR AUTISM. 2018;9:26Isaksson J; Tammimies K; Neufeld J; Cauvet E; Lundin K; Buitelaar JK; Loth E; Murphy DGM; Spooren W; Bolte S
- Preprint: BIORXIV. 2017Copy number variation and neurodevelopmental problems in females and males in the general populationMartin J; Tammimies K; Karlsson R; Lu Y; Larsson H; Lichtenstein P; Magnusson P
- Preprint: BIORXIV. 2017Stamouli S; Anderlid B-M; Willfors C; Thiruvahindrapuram B; Wei J; Berggren S; Nordgren A; Scherer S; Lichtenstein P; Tammimies K; Bölte S
- Review: CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS. 2017;17(5):43Marschik PB; Pokorny FB; Peharz R; Zhang D; O'Muircheartaigh J; Roeyers H; Bolte S; Spittle AJ; Urlesberger B; Schuller B; Poustka L; Ozonoff S; Pernkopf F; Pock T; Tammimies K; Enzinger C; Krieber M; Tomantschger I; Bartl-Pokorny KD; Sigafoos J; Roche L; Esposito G; Gugatschka M; Nielsen-Saines K; Einspieler C; Kaufmann WE
- Book chapter: AUTISM IMAGING AND DEVICES. 2016;p. 15-36Willfors C; Tammimies K; Bölte S
- Editorial comment: AUTISM. 2016;20(3):259-261Tammimies K; Falck-Ytter T; Bolte S
- Conference publication: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE. 2012;30(8):675-676Tammimies K; Vitezic M; Matsson H; Le Guyader S; Burglin TR; Ohman T; Stromblad S; Daub CO; Nyman TA; Kere J; Tapia-Paez I
- Conference publication: JOURNAL OF INVESTIGATIVE DERMATOLOGY. 2011;131:S69Tervaniemi M; Tammimies K; Siitonen A; Suomela S; Kere J; Elomaa O
- Conference publication: INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE. 2010;28(8):696Tammimies K; Tapia-Paez I; Massinen S; Hokkanen ME; Matsson H; Peyrard-Janvid M
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Grants
- Swedish Research Council for Health Working Life and Welfare1 January 2025 - 31 December 2025Research idea and purposeAutism spectrum disorder (from now on autism) with intellectual disability (ID) is a severe and long-lasting disorder. Repeated systematic reviews show that migrant children have an increased risk of it, but the use of available care is lower in the group. Based on this we have two, separate but interlinked, general research ideas. The first is to elucidate the complex reasons why children of migrants have an increased risk of autism with ID and go from evidence to action to prevent it.The second is to co-design, evaluate and implement interventions to promote a better understanding of the disorder in high-risk migrant groups to decrease stigma and increase the use of available evidence-based care.The focus of the planning grant is to start together with the most affected population, the Somali population. Estimates from Sweden show that children with a Somali descent have about a four times higher prevalence as compared with non-Somali children, and this is in line with international studies. The purpose of this planning grant is to, together with parents of children with autism and ID and trusted Somali community leaders and health care staff, co-create a roadmap for research on the general research ideas.Work plan, methods and project realisationWe have a broad network of stakeholder contacts in Järva outside Stockholm and there we will adopt a community-based participatory research approach. Together with three Somali speaking research assistants we will do focus group interviews with Somali parents of children who have autism with ID and locally trusted community leaders throughout the summer 2025. The results of the focus group interviews will be published in a report in plain and accessible language that will be translated to Somali. The report will be the base for a workshop followed by activities to co-create a viable way forward.Societal relevance and utilisationAutism with ID is a highly disabling disorder with large human and economic costs. Children of Somali descent in high-income countries have a severely increased prevalence and the parents wonder why their children are so disproportionally affected. Research of causes, and interventions to make affected children thrive must include and enlist the help of those affected not to overlook risk factors and to increase the likelihood that the research findings can be applied in real life.
- Swedish Research Council1 January 2024 - 31 December 2027Autism is a neurodevelopmental condition diagnosed in 1-2% of children. Hundreds of genes have been implicated in autism, but a relatively low percentage of autistic individuals have an identifiable single-gene cause for their condition. A combination of other genetic information, such as polygenic risk scores (PRS), is not used in clinical settings yet. Additional investigations are needed to improve the use of genetic information, such as using biological information to improve the genetics scores. Limited information on the effects of high PRS on molecular and cellular phenotypes in neural development. Here, we aim to estimate better how to use biological information such as gene ontology to calculate genetic risk scores from both common and rare variants in autism. We specifically hypothesize that these genetic scores calculated for genes encoding for RNA regulators are associated with co-occurring conditions and severity. Furthermore, we will obtain the multi-omic profiles of neural cells and cerebral organoids generated from induced pluripotent stem cells of carriers with high common RNA regulator PRS and compare these with already available single-gene cellular models. Lastly, we will use genomic and molecular data to identify putative drug targets for subgroups in ASD. Our project will hopefully lead to a better understanding of autism at the genetic and molecular level and improve the use of the data in clinical settings.
- Swedish Research Council1 January 2024 - 31 December 2026ARID1B is the most frequently mutated single gene in neurodevelopmental disorders (NDDs) that are not inherited, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to severe developmental delay, and children and adults with the disorder have intellectual disability and are often diagnosed with autism alongside many other clinical signs. Despite ARID1B-RD’s high prevalence and extensive debilitating effects, the current understanding of how the disorder develops over time is strikingly limited. The proposed project will address this gap by employing a prospective longitudinal multi-method design. Specifically, we will monitor the development of 135 children and adolescents aged 2-18 with ARID1B-RD for 30 months. Monitoring will involve a) administration of standardized NDD assessments by clinicians complemented by caregivers’ reportsb) evaluation of biological aspects of ARID1B-RD, and c) collection daily life data via caregivers’ reports, and auditory and activity data using microphones and smartwatches. The project team brings a diverse complementary skills and collaborates with leading patient advocacy organizations. The project will generate a comprehensive picture of the progression of ARID1B-RD. The generated data will allow identifying and validating measurable targets for interventions, thus facilitating the development of effective treatments for thousands of children worldwide.
- Deutsche Forschungsgemeinschaft1 January 2024ARID1B is the most frequently mutated single gene among neurodevelopmental disorders (NDDs) that are not inherited, with an approximated prevalence of one in 9,500 individuals. ARID1B-related disorder (ARID1B-RD) manifests in early childhood as moderate to severe developmental delay, and children and adults with the disorder have intellectual disability (ID) and are often diagnosed with autism spectrum disorder along with many other clinical signs. Despite ARID1B-RD’s high prevalence and extensive debilitating effects, the current understanding of how the disorder develops over time is strikingly limited. The proposed project will address this gap by employing a prospective longitudinal multi-method design. Specifically, in six sites, we will monitor the development of 100 children and adolescents aged 2-18 with ARID1B-RD for three years. Monitoring will involve (a) administration of standardized NDD assessments complemented by ARID1B-RD-specific tools(b) evaluation of biological aspects of ARID1B-RD (for example, electric brain activity)and (c) collection of daily life data via caregivers’ reports, and audio and movement data using smartwatches and microphones. The project team brings a diverse set of complementary skills and collaborates with a leading patient advocacy organization. The project will generate a comprehensive picture of the progression of ARID1B-RD . The data will allow identifying and validating measurable targets for interventions, thus facilitating the development of effective treatments for thousands of children worldwide.
- Swedish Research Council1 January 2024 - 31 December 2026Preterm birth occurs in 6-12% of pregnancies globally. Intensive care of preterm infants has made major advance over the last decades resulting in dramatically increased survival rates for the most immature infants and a whole new generation of children entering school. While incidence of cerebral palsy decrease, the incidence of neurodevelopmental disorders including intellectual dysfunction, ADHD and autism spectrum disorder now increase and risks are related to immaturity at birth. In children born before 28 weeks´ gestation, two thirds eventually have neurodevelopmental impairments affecting their daily life and academic achievements. To improve outcomes, there is a need for identifying early signs of adverse brain development and to find effective early interventions.The overarching aim is to examine the relations between modifiable perinatal risks, family risk, brain development, neurodevelopment and neurodevelopmental outcomes in children born extremely preterm to improve early prediction and outcomes. In a randomized controlled study, we coach parents to support their preterm born infant´s development in the first year of life and then evaluate neurodevelopmental outcomes. Based on the study results and prediction models we plan to further individualize the intervention.
- Swedish Research Council1 January 2024 - 31 December 2028Autism is a neurodevelopmental condition diagnosed in 1-2% of children. Hundreds of genes have been implicated in autism, but a relatively low percentage of autistic individuals have an identifiable single-gene cause for their condition. A combination of other genetic information, such as polygenic risk scores (PRS), is not used in clinical settings yet. Additional investigations are needed to improve the use of genetic information, such as using biological information to improve the genetics scores. Limited information on the effects of high PRS on molecular and cellular phenotypes in neural development. Here, we aim to estimate better how to use biological information such as gene ontology to calculate genetic risk scores from both common and rare variants in autism. We specifically hypothesize that these genetic scores calculated for genes encoding for RNA regulators are associated with co-occurring conditions and severity. Furthermore, we will obtain the multi-omic profiles of neural cells and cerebral organoids generated from induced pluripotent stem cells of carriers with high common RNA regulator PRS and compare these with already available single-gene cellular models. Lastly, we will use genomic and molecular data to identify putative drug targets for subgroups in ASD. Our project will hopefully lead to a better understanding of autism at the genetic and molecular level and improve the use of the data in clinical settings.
- Swedish Research Council for Health Working Life and Welfare1 January 2022 - 31 December 2024
- Swedish Research Council1 January 2020 - 31 December 2022
- Swedish Research Council for Health Working Life and Welfare1 December 2019 - 30 November 2022
- Swedish Research Council1 January 2018 - 31 December 2021
- Swedish Research Council1 January 2018 - 31 December 2020
- Swedish Research Council1 January 2017 - 31 December 2019
- Towards Personalized Medicine in Neurodevelopmental DisorderSwedish Foundation for Strategic Research1 September 2015 - 30 August 2018
- Swedish Research Council1 January 2014 - 31 December 2017
- Swedish Research Council1 July 2012 - 30 June 2015
Employments
- Senior Lecturer, Department of Women's and Children's Health, Karolinska Institutet, 2025-
- Principal Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2022-2025
- Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2021-2021
- Assistant Professor, Department of Women's and Children's Health, Karolinska Institutet, 2017-2020
- Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2016-2016
- Postdoctoral Researcher, Department of Women's and Children's Health, Karolinska Institutet, 2012-2015
- Phd Student, Department of Biosciences and Nutrition, Karolinska Institutet, 2009-2012
- Research Assistant on Study Grant, Department of Biosciences and Nutrition, Karolinska Institutet, 2008-2009
- Clinical Position, ME Högspecialiserad barnmedicin och opererande verksamheter, Karolinska Universitetssjukhuset
Degrees and Education
- Docent, Medical Genetics, Karolinska Institutet, 2021
- Degree Of Doctor Of Philosophy, Department of Biosciences and Nutrition, Karolinska Institutet, 2011
Leadership and responsibility assignments
- Director of studies, Director for Doctoral Studies, KBH, Karolinska Institutet, 2024-