Behrang Mahjani
We study developmental origins and trajectories of neuropsychiatric disorders, including psychiatric-somatic comorbidity (lower urinary tract symptoms), and how genetic profiles influence long-term tr
About me
Our lab investigates the developmental origins and trajectories of neuropsychiatric disorders, with particular focus on autism spectrum disorder and ADHD. These neurodevelopmental conditions emerge early in childhood through complex interactions between genetic and environmental factors. We explore psychiatric somatic comorbidity, particularly the unexpected overlap between ADHD and lower urinary tract symptoms (LUTS), which reveals shared neuroendocrine mechanisms involving the HPA axis and autonomic nervous system. Additionally, we investigate pharmacogenetic interactions in ADHD, examining how genetic profiles influence stimulant treatment outcomes and the risk of developing psychotic and bipolar disorders in treated youth.
We also study severe postpartum psychiatric disorders, particularly postpartum psychosis, which represents a critical window for understanding psychiatric vulnerability. Through rare variant analyses and large scale genomic cohorts, we characterize the genetic architecture of these conditions and identify pregnancy specific triggers.
Articles
- Journal article: AUTISM RESEARCH. 2026;19(8):e70297Levy T; Lapidus D; Friedman K; Siper P; Glass L; Squires L; Hames M; Buxbaum JD; Genetic Testing Consortium; Kolevzon A
- Journal article: NPJ GENOMIC MEDICINE. 2026Zaks N; Mahjani B; Reichenberg A; Birnbaum R
- Journal article: COMMUNICATIONS BIOLOGY. 2026;9(1):1146Caballero M; Satterstrom FK; de Rubeis S; Buxbaum JD; Mahjani B
- Journal article: MOLECULAR PSYCHIATRY. 2026;:1-10Jung S; Caballero M; Kepinska A; Smout S; Munk-Olsen T; Robakis TK; Bergink V; Mahjani B
- Journal article: BIOLOGICAL PSYCHIATRY. 2026;99(9):740-747Bergink V; Akbarian S; Byatt N; Chandra PS; Cirino N; Dazzan P; De Witte L; Di Florio A; Dolman C; Jones I; Kamperman A; Mahjani B; Meltzer-Brody S; Munk-Olsen T; Nagle-Yang S; Osborne LM; Rasgon N; Robakis T; Thippeswamy H; Vigod SN; Payne JL
- Journal article: BIOLOGICAL PSYCHIATRY. 2026;99(10):s85Jung S; Caballero M; Olfson E; Newcorn J; Fernandez T; Mahjani B
- Journal article: BIOLOGICAL PSYCHIATRY. 2026;99(10):s97Bergink V; Jung S; Smout S; Milazzo F; Robakis T; Mahjani B
- Journal article: BIOLOGICAL PSYCHIATRY. 2026;99(10):s131-s132Smout S; Udeshi A; Jung S; Caballero M; Bercovitch R; Mahjani B
- Article: NATURE MEDICINE. 2026;32(4):1519-1529Natividad Avila M; Jung S; Satterstrom FK; Fu JM; Levy T; Sloofman LG; Klei L; Pichardo T; Marquez D; Stevens CR; Cusick CM; Ames JL; Campos GS; Cerros H; Chaskel R; Costa CIS; Cuccaro ML; Lopez ADP; Fernandez M; Ferro E; Galeano L; Girardi ACDES; Griswold AJ; Hernandez LC; Lourenco N; Ludena Y; Nunez-Rios D; Oyama R; Pena KP; Pessah I; Schmidt R; Sweeney HM; Tolentino L; Wang JYT; Albores-Gallo L; Croen LA; Cruz-Fuentes CS; Hertz-Picciotto I; Kolevzon A; Lattig MC; Mayo L; Passos-Bueno MR; Pericak-Vance MA; Siper PM; Tassone F; Trelles MP; De Rubeis S; Foss-Feig J; Hara E; Halpern D; Li Y; Sancimino C; Soufer R; Zweifach J; Aleksic B; Artomov M; Barbosa M; Benetti E; Biscaldi-Schafer M; Borglum AD; Brand H; Brusco A; Cardaropoli S; Carli D; Carracedo A; Chan MCY; Chiocchetti AG; Chung BHY; Collins B; Collins RL; Coon H; Cutler DJ; Doan RN; Domenici E; Dong S; Fallerini C; Fernandez-Prieto M; Ferrero GB; Freitag CM; Gargus JJ; Gerges S; Giorgio E; Guter S; Hansen-Kiss E; Herman GE; Hougaard DM; Hultman CM; Jacob S; Kaartinen M; Kushima I; Lee SL; Lehtimaki T; Liang L; Lintas C; Ljungdahl A; Lo Rizzo C; Maciel P; Maltman N; Manara M; Manoach DS; Meiri G; Menashe I; Miller J; Minshew N; Mosconi M; Nguyen R; Ozaki N; Palotie A; Parellada M; Pavinato L; Peng M; Pericak-Vance M; Persico AM; Pessah IN; Puura K; Reichenberg A; Renieri A; Sanders SJ; Sandin S; Scherer SW; Schlitt S; Schmidt RJ; Schmitt L; Schneider-Momm K; Sloofman L; Smith M; Suren P; Sutcliffe JS; Sweeney JA; Teufel K; Trabetti E; Trajkova S; Wamsley B; Weiss LA; Yu MHC; Yuen R; Talkowski ME; Daly MJ; Mahjani B; Cook EH; Roeder K; Betancur C; Devlin B; Buxbaum JD
- Journal article: JAMA NETWORK OPEN. 2026;9(3):e260682Liu X; Smout S; Mahjani B; Munk-Olsen T; Blæhr EE; Robakis TK; Bergink V
- Journal article: BIOLOGICAL PSYCHIATRY GLOBAL OPEN SCIENCE. 2026;6(2):100683Jung S; Caballero M; Smout S; Mahjani B
- Journal article: PSYCHOLOGICAL MEDICINE. 2026;56:e26Kepinska A; Robakis T; Smout S; Bercovitch R; Cohen L; Mahjani ICG; Skalkidou A; Bergink V; Mahjani B
- Journal article: BIOLOGICAL PSYCHIATRY GLOBAL OPEN SCIENCE. 2026;6(1):100614Chatzigeorgiou C; Asgel Z; Avila MN; Mahjani B; Khachadourian V; Souaiaia T; Mullins N; Janecka M
- Journal article: NEUROSCIENCE APPLIED. 2026;5:106704Liu X; Smout S; Mahjani B; Munk-Olsen T; Blæhr E; Robakis T; Bergink V
- Journal article: RES SQ. 2025;:rs.3.rs-7031850Halvorsen M; Wang S; Miller-Fleming T; Yu D; Topaloudi A; de Schipper E; Bäckman J; Mataix-Cols D; Rück C; Mahjani B; Buxbaum J; Grice D; Cavallari L; Angiolillo D; Franchi F; Davis L; Han L; Ruderfer D; Dietrich A; Hoekstra P; Mattheisen M; Porras L; Giusti-Rodríguez P; Mathews C; Paschou P; Scharf J; Willsey J; Crowley J
- Journal article: AMERICAN JOURNAL OF PSYCHIATRY. 2025;182(8):742-750Mahjani B; Kepinska AP; Smout S; Cohen L; Caballero M; Buxbaum JD; Grice DE
- Article: NATURE GENETICS. 2025;57(6):1389-1401Strom NI; Gerring ZF; Galimberti M; Yu D; Halvorsen MW; Abdellaoui A; Rodriguez-Fontenla C; Sealock JM; Bigdeli T; Coleman JR; Mahjani B; Thorp JG; Bey K; Burton CL; Luykx JJ; Zai G; Alemany S; Andre C; Askland KD; Baeckman J; Banaj N; Nissen JB; Bienvenu OJ; Black D; Bloch MH; Borte S; Bosch R; Breen M; Brennan BP; Brentani H; Buxbaum JD; Bybjerg-Grauholm J; Byrne EM; Cabana-Dominguez J; Camarena B; Camarena A; Cappi C; Carracedo A; Casas M; Cavallini MC; Ciullo V; Cook EH; Crosby J; Cullen BA; De Schipper EJ; Delorme R; Djurovic S; Elias JA; Estivill X; Falkenstein MJ; Fundin BT; Garner L; Gironda C; Goes FS; Grados MA; Grove J; Guo W; Haavik J; Hagen K; Harrington K; Havdahl A; Hoeffler KD; Hounie AG; Hucks D; Hultman C; Janecka M; Jenike E; Karlsson EK; Kelley K; Klawohn J; Krasnow JE; Krebs K; Lange C; Lanzagorta N; Levey D; Lindblad-Toh K; Macciardi F; Maher B; Mathes B; Mcarthur E; Mcgregor N; Mclaughlin NC; Meier S; Miguel EC; Mulhern M; Nestadt PS; Nurmi EL; O'Connell KS; Osiecki L; Ousdal OT; Palviainen T; Pedersen NL; Piras F; Piras F; Potluri S; Rabionet R; Ramirez A; Rauch S; Reichenberg A; Riddle MA; Ripke S; Rosario MC; Sampaio AS; Schiele MA; Skogholt AH; Sloofman LG; Smit J; Artigas MS; Thomas LF; Tifft E; Vallada H; van Kirk N; Veenstra-VanderWeele J; Vulink NN; Walker CP; Wang Y; Wendland JR; Winsvold BS; Yao Y; Zhou H; Metspalu A; Esko T; Maegi R; Nelis M; Hudjashov G; German C; Agrawal A; Alonso P; Berberich G; Bucholz KK; Bulik CM; Cath D; Denys D; Eapen V; Edenberg H; Falkai P; Fernandez TV; Fyer AJ; Gaziano JM; Geller DA; Grabe HJ; Greenberg BD; Hanna GL; Hickie IB; Hougaard DM; Kathmann N; Kennedy J; Lai D; Landen M; Hellard SL; Leboyer M; Lochner C; Mccracken JT; Medland SE; Mortensen PB; Neale BM; Nicolini H; Nordentoft M; Pato M; Pato C; Pauls DL; Piacentini J; Pittenger C; Posthuma D; Ramos-Quiroga JA; Rasmussen SA; Richter MA; Rosenberg DR; Ruhrmann S; Samuels JF; Sandin S; Sandor P; Spalletta G; Stein DJ; Stewart SE; Storch EA; Stranger BE; Turiel M; Werge T; Andreassen OA; Borglum AD; Walitza S; Hveem K; Hansen BK; Rueck C; Martin NG; Milani L; Mors O; Reichborn-Kjennerud T; Ribases M; Kvale G; Mataix-Cols D; Domschke K; Gruenblatt E; Wagner M; Zwart J-A; Breen G; Nestadt G; Kaprio J; Arnold PD; Grice DE; Knowles JA; Ask H; Verweij KJ; Davis LK; Smit DJ; Crowley JJ; Scharf JM; Stein MB; Gelernter J; Mathews CA; Derks EM; Mattheisen M
- Article: AMERICAN JOURNAL OF PSYCHIATRY. 2025;182(6):542-550Kepinska AP; Robakis TK; Humphreys K; Liu X; Kahn RS; Munk-Olsen T; Bergink V; Mahjani B
- Journal article: NATURE GENETICS. 2025;57(6):1389-1401Strom NI; Gerring ZF; Galimberti M; Yu D; Halvorsen MW; Abdellaoui A; Rodriguez-Fontenla C; Sealock JM; Bigdeli T; Coleman JR; Mahjani B; Thorp JG; Bey K; Burton CL; Luykx JJ; Zai G; Alemany S; Andre C; Askland KD; Bäckman J; Banaj N; Barlassina C; Nissen JB; Bienvenu OJ; Black D; Bloch MH; Børte S; Bosch R; Breen M; Brennan BP; Brentani H; Buxbaum JD; Bybjerg-Grauholm J; Byrne EM; Cabana-Dominguez J; Camarena B; Camarena A; Cappi C; Carracedo A; Casas M; Cavallini MC; Ciullo V; Cook EH; Crosby J; Cullen BA; De Schipper EJ; Delorme R; Djurovic S; Elias JA; Estivill X; Falkenstein MJ; Fundin BT; Garner L; Gironda C; Goes FS; Grados MA; Grove J; Guo W; Haavik J; Hagen K; Harrington K; Havdahl A; Höffler KD; Hounie AG; Hucks D; Hultman C; Janecka M; Jenike E; Karlsson EK; Kelley K; Klawohn J; Krasnow JE; Krebs K; Lange C; Lanzagorta N; Levey D; Lindblad-Toh K; Macciardi F; Maher B; Mathes B; McArthur E; McGregor N; McLaughlin NC; Meier S; Miguel EC; Mulhern M; Nestadt PS; Nurmi EL; O'Connell KS; Osiecki L; Ousdal OT; Palviainen T; Pedersen NL; Piras F; Piras F; Potluri S; Rabionet R; Ramirez A; Rauch S; Reichenberg A; Riddle MA; Ripke S; Rosário MC; Sampaio AS; Schiele MA; Skogholt AH; Sloofman LG; Smit J; Artigas MS; Thomas LF; Tifft E; Vallada H; van Kirk N; Veenstra-VanderWeele J; Vulink NN; Walker CP; Wang Y; Wendland JR; Winsvold BS; Yao Y; Zhou H; Estonian Biobank; 23andMe Inc.; Agrawal A; Alonso P; Berberich G; Bucholz KK; Bulik CM; Cath D; Denys D; Eapen V; Edenberg H; Falkai P; Fernandez TV; Fyer AJ; Gaziano JM; Geller DA; Grabe HJ; Greenberg BD; Hanna GL; Hickie IB; Hougaard DM; Kathmann N; Kennedy J; Lai D; Landén M; Hellard SL; Leboyer M; Lochner C; McCracken JT; Medland SE; Mortensen PB; Neale BM; Nicolini H; Nordentoft M; Pato M; Pato C; Pauls DL; Piacentini J; Pittenger C; Posthuma D; Ramos-Quiroga JA; Rasmussen SA; Richter MA; Rosenberg DR; Ruhrmann S; Samuels JF; Sandin S; Sandor P; Spalletta G; Stein DJ; Stewart SE; Storch EA; Stranger BE; Turiel M; Werge T; Andreassen OA; Børglum AD; Walitza S; Hveem K; Hansen BK; Rück C; Martin NG; Milani L; Mors O; Reichborn-Kjennerud T; Ribasés M; Kvale G; Mataix-Cols D; Domschke K; Grünblatt E; Wagner M; Zwart J-A; Breen G; Nestadt G; Kaprio J; Arnold PD; Grice DE; Knowles JA; Ask H; Verweij KJ; Davis LK; Smit DJ; Crowley JJ; Scharf JM; Stein MB; Gelernter J; Mathews CA; Derks EM; Mattheisen M
- Journal article: BIOLOGICAL PSYCHIATRY. 2025;97(9):s118Smout S; Mahjani B; Robakis T
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All other publications
- Preprint: MEDRXIV. 2026;MEDRXIVUdeshi A; Smout S; Caballero M; Rapp A; Kolevzon A; Mahjani B; Jung S
- Preprint: MEDRXIV. 2026;MEDRXIVSatterstrom FK; Jodeiry K; Mahjani B; Hatem G; Park SJ; Klei L; Fu JM; Wigdor EM; Autism Sequencing Consortium; Betancur C; Daly MJ; Roeder K; Devlin B; Buxbaum JD; Cutler DJ
- Preprint: MEDRXIV. 2026;MEDRXIVNiarchou M; Avila MN; Mahjani B; Buxbaum JD; Mullins N; Grice DE
- Preprint: MEDRXIV. 2026Yu D; Strom NI; Gerring ZF; Topaloudi A; Halvorsen MW; Shekhar S; Miller-Fleming TW; Tang M; Porras LM; Ivankovic F; Mahjani B; Palviainen T; Corfield EC; Androutsos C; Apter A; Ask H; Baglioni V; Ball J; Barr CL; Barta C; Basha E; Batterson JR; Benaroya-Milshtein N; Benarroch F; Boomsma DI; Børglum AD; Budman CL; Buitelaar JK; Buse J; Bybjerg-Grauholm J; Cardona F; Cath DC; Cavallari LH; Cheon K-A; Coffey BJ; Dahl N; Depienne C; Dietrich A; Domènech L; Drineas P; Einarsson G; Elster EM; Fan S; Feldman D; Fernandez TV; Fichna JP; Forde NJ; Fothi A; Fremer C; Gantz E; Garcia-Delgar B; Georgitsi M; Gilbert DL; Glennon J; Glover D; Grados MA; Greenberg EL; Grove J; Gudbjartsson DF; Hartmann A; Havdahl A; Hedderly T; Hengerer B; Herrera-Amighetti LD; Heyman I; Hoekstra PJ; Hong HJ; Huang AY; Huijser C; Isaacs D; Janik P; Jankovic J; Jespersgaard C; Jung S; Kanaan AS; Kapisyzi M; Kappler-Friedrichs C; Kaprio J; Karagiannidis I; Khalifa N; Kim YS; King RA; Kirchen N; Klages CS; Koh Y-J; Koumoula A; Kuperman S; Leckman JF; Leventhal BL; Liang H; Lochner C; Lopez ML; Madruga-Garrido M; Malaty IA; Malik O; McMahon WM; Meier SM; Messchendorp MD; Mingbunjerdsuk D; Mir P; Morer A; Müller N; Müller-Vahl K; Münchau A; Muñoz-Delgado L; Murphy T; Nagy P; Neale BM; Nurmi EL; O’Connell KS; Okun MS; Padmanabhuni SS; Pauls DL; Plessen K; Poelmans G; Porcelli C; Posthuma D; Pouwels PJW; Puchala J; Rizzo R; Robertson M; Roessner V; Rosen A; Rouleau G; Sandin S; Sandor P; Scheiene M; Schmitt S; Senior JA; Singer HS; Smoller JW; Sopena S; Steinberg T; Szejko N; Szymanska U; Tarnok Z; Thorarensen O; Timmor M; Tischfield JA; Tümer Z; Uhlmann A; van den Heuvel OA; van der Werf YD; Vela MC; Veltman DJ; Vigil-Pérez A; Walters GB; Wang B; Werge T; Widomska J; Wolanczyk T; Worbe Y; Xing J; Yin J; Zekanowski C; Zilhäo NR; Zinner SH; Buxbaum JD; Grice DE; Hultman C; Stefansson H; Andreassen O; Palotie A; Heiman GA; Gandal MJ; Davis LK; Giusti-Rodríguez P; Mattheisen M; Crowley JJ; Paschou P; Scharf JM; Mathews CA
- Preprint: MEDRXIV. 2026Smout S; Jung S; Bergink V; Mahjani B
- Preprint: MEDRXIV. 2026Smout S; Jung S; Udeshi A; Caballero M; Rapp A; Kolevzon A; Mahjani B
- Preprint: MEDRXIV. 2025;MEDRXIVSmout S; Milazzo F; Robakis TK; Bergink V; Mahjani B
- Preprint: HGG ADVANCES. 2025Caballero M; Mahjani B
- Preprint: ARXIV. 2025Caballero M; Mahjani B
- Conference publication: PHARMACOEPIDEMIOLOGY AND DRUG SAFETY. 2025;34:420-421Smout S; Liu X; Blaehr EE; Mahjani B; Robakis T; Munk-Olsen T; Bergink V
- Preprint: MEDRXIV. 2025;MEDRXIVZaks N; Mahjani B; Reichenberg A; Birnbaum R
- Preprint: MEDRXIV. 2025;MEDRXIVJung S; Caballero M; Smout S; Mahjani B
- Preprint: MEDRXIV. 2025Chatzigeorgiou C; Asgel Z; Avila MN; Mahjani B; Khachadourian V; Souaiaia T; Mullins N; Janecka M
- Conference publication: BIOLOGICAL PSYCHIATRY. 2025;97(9)Smout S; Mahjani B; Robakis T
- Preprint: MEDRXIV. 2025;MEDRXIVStrom NI; Gerring ZF; Galimberti M; Yu D; Halvorsen MW; Abdellaoui A; Rodriguez-Fontenla C; Sealock JM; Bigdeli T; Coleman JR; Mahjani B; Thorp JG; Bey K; Burton CL; Luykx JJ; Zai G; Alemany S; Andre C; Askland KD; Bäckmann J; Banaj N; Barlassina C; Nissen JB; Bienvenu OJ; Black D; Bloch MH; Børte S; Bosch R; Breen M; Brennan BP; Brentani H; Buxbaum JD; Bybjerg-Grauholm J; Byrne EM; Cabana-Dominguez J; Camarena B; Camarena A; Cappi C; Carracedo A; Casas M; Cavallini MC; Ciullo V; Cook EH; Crosby J; Cullen BA; De Schipper EJ; Delorme R; Djurovic S; Elias JA; Estivill X; Falkenstein MJ; Fundin BT; Garner L; Gironda C; Goes FS; Grados MA; Grove J; Guo W; Haavik J; Hagen K; Harrington K; Havdahl A; Höffler KD; Hounie AG; Hucks D; Hultman C; Janecka M; Jenike E; Karlsson EK; Kelley K; Klawohn J; Krasnow JE; Krebs K; Lange C; Lanzagorta N; Levey D; Lindblad-Toh K; Macciardi F; Maher B; Mathes B; McArthur E; McGregor N; McLaughlin NC; Meier S; Miguel EC; Mulhern M; Nestadt PS; Nurmi EL; O'Connell KS; Osiecki L; Ousdal OT; Palviainen T; Pedersen NL; Piras F; Piras F; Potluri S; Rabionet R; Ramirez A; Rauch S; Reichenberg A; Riddle MA; Ripke S; Rosário MC; Sampaio AS; Schiele MA; Skogholt AH; Sloofman LG; Smit J; Soler Artigas M; Thomas LF; Tifft E; Vallada H; van Kirk N; Veenstra-VanderWeele J; Vulink NN; Walker CP; Wang Y; Wendland JR; Winsvold BS; Yao Y; Zhou H; Estonian Biobank; 23andMe Inc.; Agrawal A; Alonso P; Berberich G; Bucholz KK; Bulik CM; Cath D; Denys D; Eapen V; Edenberg H; Falkai P; Fernandez TV; Fyer AJ; Gaziano JM; Geller DA; Grabe HJ; Greenberg BD; Hanna GL; Hickie IB; Hougaard DM; Kathmann N; Kennedy J; Lai D; Landén M; Le Hellard S; Leboyer M; Lochner C; McCracken JT; Medland SE; Mortensen PB; Neale BM; Nicolini H; Nordentoft M; Pato M; Pato C; Pauls DL; Piacentini J; Pittenger C; Posthuma D; Ramos-Quiroga JA; Rasmussen SA; Richter MA; Rosenberg DR; Ruhrmann S; Samuels JF; Sandin S; Sandor P; Spalletta G; Stein DJ; Stewart SE; Storch EA; Stranger BE; Turiel M; Werge T; Andreassen OA; Børglum AD; Walitza S; Hveem K; Hansen BK; Rück C; Martin NG; Milani L; Mors O; Reichborn-Kjennerud T; Ribasés M; Kvale G; Mataix-Cols D; Domschke K; Grünblatt E; Wagner M; Zwart J-A; Breen G; Nestadt G; Kaprio J; Arnold PD; Grice DE; Knowles JA; Ask H; Verweij KJ; Davis LK; Smit DJ; Crowley JJ; Scharf JM; Stein MB; Gelernter J; Mathews CA; Derks EM; Mattheisen M
- Preprint: MEDRXIV. 2025Renström-Koskela L; Skokic V; Scharp D; Buxbaum J; Grice D; Mahjani B; Akre O
- Preprint: MEDRXIV. 2025Renström-Koskela L; Viktor Skokic L; Kępińska A; Scharp D; Mahjani CG; Humphreys K; Buxbaum J; Grice D; Mahjani B; Akre O
- Preprint: MEDRXIV. 2025;MEDRXIVJung S; Caballero M; Olfson E; Newcorn JH; Fernandez TV; Mahjani B
- Preprint: MEDRXIV. 2025;MEDRXIVAvila MN; Jung S; Satterstrom FK; Fu JM; Levy T; Sloofman LG; Klei L; Pichardo T; Stevens CR; Cusick CM; Ames JL; Campos GS; Cerros H; Chaskel R; Costa CIS; Cuccaro ML; Del Pilar Lopez A; Fernandez M; Ferro E; Galeano L; Girardi ACDES; Griswold AJ; Hernandez LC; Lourenço N; Ludena Y; Nuñez DL; Oyama R; Peña KP; Pessah I; Schmidt R; Sweeney HM; Tolentino L; Wang JYT; Albores-Gallo L; Croen LA; Cruz-Fuentes CS; Hertz-Picciotto I; Kolevzon A; Lattig MC; Mayo L; Passos-Bueno MR; Pericak-Vance MA; Siper PM; Tassone F; Trelles MP; Autism Sequencing Consortium; Talkowski ME; Daly MJ; Mahjani B; De Rubeis S; Cook EH; Roeder K; Betancur C; Devlin B; Buxbaum JD
- Preprint: MEDRXIV. 2024Mahjani B; Kępińska A; Smout S; Cohen L; Caballero M; Buxbaum J; Grice D
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Grants
- The Role of Stimulant Medication for Psychotic and Bipolar Disorders in Youth with ADHDSwedish Research Council1 January 2026 - 31 December 2029
- Mechanism of Association Between Childhood Psychiatric Disorder and Lower Urinary Tract SymptomsSwedish Research Council1 January 2026 - 31 December 2028
- Swedish Research Council1 January 2026 - 31 December 2028This project explores the bidirectional relationship between psychiatric disorders (ADHD, OCD, anxiety) and urinary problems in children. We aim to: (1) identify genetic factors in neuroendocrine pathways contributing to this co-occurrence(2) determine how these genetic factors influence gene expression in relevant tissuesand (3) track how these conditions develop over time and are affected by environmental factors.Spanning five years, this project brings together experts in urology, psychiatry, and genetics from Karolinska Institutet and Mount Sinai. We will analyze data from Swedish registers, international cohorts (All of Us, ABCD Study), and Swedish Twin Registry. The first two years will focus on genetic analysis, the third year on gene expression, and the final two years on developmental trajectories and data integration. The project employs pathway-specific genetic risk scores, sex-stratified analyses, and longitudinal modeling.This research reframes urinary symptoms as potential markers of broader neuroendocrine dysfunction affecting both body and brain. By understanding how stress-response systems connect these conditions, we can identify children at highest risk and determine optimal timing for intervention. This approach targeting shared biological mechanisms will improve outcomes for these vulnerable children.
- Swedish Research Council1 January 2026 - 31 December 2029This five-year project investigates how stimulant treatment influences the risk of psychotic and bipolar disorders in youth with ADHD. While stimulants provide significant therapeutic benefits, they may precipitate severe psychiatric complications in vulnerable individuals. To identify risk and protective factors, we will examine: (1) stimulant type, dose, and duration effects(2) shared genetic and environmental factors(3) individual vulnerabilities and stressorsand (4) ADHD symptom-specific contributions.We will analyze two complementary datasets: Swedish national registers (1,269,516 individuals, 86,705 with ADHD) and detailed clinical data from Uppsala´s Child and Adolescent Psychiatric unit (6,000 individuals). Using advanced statistical methods, including time-to-event analyses, family-based quasi-experimental designs, and statistical genetic models, we will distinguish medication effects from familial influences.Given the 119% increase in ADHD diagnoses in Sweden over the past decade, this research addresses an urgent public health concern. Findings will improve risk assessment, inform safer prescribing practices, and guide personalized ADHD treatment to prevent severe psychiatric outcomes, including suicide, in high-risk youth.
- National Institute of Mental Health1 July 2025 - 30 April 2026
- National Institute of Mental Health1 July 2025 - 30 April 2030Project Summary Considerable progress has been made in identifying highly penetrant genes for autism spectrum disorder (ASD), particularly those involving deleterious de novo mutations that are evolutionarily constrained and crucial for developmental processes. These mutations typically result in syndromic forms of ASD with severe symptoms, but they are rare and do not account for the majority of ASD cases. In contrast, identifying genes with a moderate effect size (MES), which may explain the more heritable, mild, and broader ASD spectrum, has been limited. This project aims to identify and characterize MES risk genes by integrating both rare and common genetic variation. Our central hypothesis is that MES genes significantly contribute to ASD liability and manifestation, particularly among individuals with a high genetic load of common variation. The central hypothesis will be tested by pursuing four specific aims: (1) Identify and characterize MES risk genes using rare variation stratified by common variation(2) Identify MES risk genes on chromosome X using rare variation stratified by common variation(3) Identify MES risk genes contributing to ASD co-occurring conditionsand (4) Cluster MES risk genes to identify biological pathways relevant to ASD heterogeneity. This research is significant because it sheds light on the role of MES risk genes in ASD liability and presentation, enhancing diagnostic accuracy and supporting clinical applications such as genetic counseling and individualized treatment options. The most innovative parts of our proposal include (1) a novel gene discovery approach targeting MES risk genes typically overlooked due to their subtler effects, (2) the integration of both common and rare genetic variations to comprehensively understand their interplay in ASD, (3) investigating sex- and genetic ancestry-specific ASD risk factors, particularly on chromosome X, and (4) identifying genetic factors that correspond to the heterogeneity within ASD. Importantly, although methodologically innovative, we use large, established collections of individuals diagnosed with ASD, their family members, and population controls, re-purposing these datasets to produce novel and clinically useful findings.
- National Institute of Mental Health15 January 2023 - 31 December 2024
- Swedish Research Council1 January 2022 - 31 December 2024
Employments
- Research Specialist, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-
- Research Specialist, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, 2023-2026