Dalila Pinto

View Scopus Profile

Dalila Pinto

PhD

Calculated based on number of publications stored in Pure and citations from Scopus
19972022

Research activity per year

If you made any changes in Pure these will be visible here soon.

Search results

  • 2022

    Common Genetic Variation and Age of Onset of Anorexia Nervosa

    Watson, H. J., Thornton, L. M., Yilmaz, Z., Baker, J. H., Coleman, J. R. I., Adan, R. A. H., Alfredsson, L., Andreassen, O. A., Ask, H., Berrettini, W. H., Boehnke, M., Boehm, I., Boni, C., Buehren, K., Bulant, J., Burghardt, R., Chang, X., Cichon, S., Cone, R. D., Courtet, P., & 157 othersCrow, S., Crowley, J. J., Danner, U. N., de Zwaan, M., Dedoussis, G., DeSocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Djurovic, S., Dmitrzak-Weglarz, M., Docampo-Martinez, E., Duriez, P., Egberts, K., Ehrlich, S., Eriksson, J. G., Escaramís, G., Esko, T., Estivill, X., Farmer, A., Fernández-Aranda, F., Fichter, M. M., Föcker, M., Foretova, L., Forstner, A. J., Frei, O., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacòs, M., Guillaume, S., Guo, Y., Hakonarson, H., Hauser, J., Havdahl, A., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Hinney, A., Hübel, C., Hudson, J. I., Imgart, H., Jamain, S., Janout, V., Jiménez-Murcia, S., Jones, I. R., Julià, A., Kalsi, G., Kaminská, D., Kaprio, J., Karhunen, L., Kas, M. J. H., Keel, P. K., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Klareskog, L., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Leboyer, M., Li, D., Lilenfeld, L., Lin, B., Lissowska, J., Luykx, J., Magistretti, P., Maj, M., Marsal, S., Marshall, C. R., Mattingsdal, M., Meulenbelt, I., Micali, N., Mitchell, K. S., Monteleone, A. M., Monteleone, P., Myers, R., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Pantel, J., Papežová, H., Pinto, D., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ripke, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Scherag, A., Scherer, S. W., Schmidt, U., Scott, L. J., Seitz, J., Silén, Y., Šlachtová, L., Slagboom, P. E., Slof-Op ‘t Landt, M. C. T., Slopien, A., Sorbi, S., Świątkowska, B., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Walton, E., Widen, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J. E., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Gordon, S., Maguire, S., Larsen, J. T., Parker, R., Petersen, L. V., Jordan, J., Kennedy, M., Wade, T. D., Birgegård, A., Lichtenstein, P., Landén, M., Martin, N. G., Mortensen, P. B., Breen, G. & Bulik, C. M., Oct 2022, In: Biological Psychiatry Global Open Science. 2, 4, p. 368-378 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    3 Scopus citations

  • Correction: High-resolution transcriptomics informs glial pathology in human temporal lobe epilepsy (Acta Neuropathologica Communications, (2022), 10, 1, (149), 10.1186/s40478-022-01453-1)

    Pai, B., Tome‑Garcia, J., Cheng, W. S., Nudelman, G., Beaumont, K. G., Ghatan, S., Panov, F., Caballero, E., Sarpong, K., Marcuse, L., Yoo, J., Jiang, Y., Schaefer, A., Akbarian, S., Sebra, R., Pinto, D., Zaslavsky, E. & Tsankova, N. M., Dec 2022, In: Acta neuropathologica communications. 10, 1, 171.

    Research output: Contribution to journal › Comment/debate

    Open Access

  • Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

    Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Eating Disorders Working Group of the Psychiatric Genomics Consortium, German Borderline Genomics Consortium, MVP Suicide Exemplar Workgroup & VA Million Veteran Program, 1 Feb 2022, In: Biological Psychiatry. 91, 3, p. 313-327 15 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    53 Scopus citations

  • High-resolution transcriptomics informs glial pathology in human temporal lobe epilepsy

    Pai, B., Tome-Garcia, J., Cheng, W. S., Nudelman, G., Beaumont, K. G., Ghatan, S., Panov, F., Caballero, E., Sarpong, K., Marcuse, L., Yoo, J., Jiang, Y., Schaefer, A., Akbarian, S., Sebra, R., Pinto, D., Zaslavsky, E. & Tsankova, N. M., Dec 2022, In: Acta neuropathologica communications. 10, 1, 149.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    2 Scopus citations

  • Mapping genomic loci implicates genes and synaptic biology in schizophrenia

    PsychENCODE, Psychosis Endophenotypes International Consortium, The SynGO Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & Indonesia Schizophrenia Consortium, 21 Apr 2022, In: Nature. 604, 7906, p. 502-508 7 p.

    Research output: Contribution to journal › Article › peer-review

    293 Scopus citations
  • 2021

    Direct reprogramming induces vascular regeneration post muscle ischemic injury

    Kaur, K., Hadas, Y., Kurian, A. A., Żak, M. M., Yoo, J., Mahmood, A., Girard, H., Komargodski, R., Io, T., Santini, M. P., Sultana, N., Sharkar, M. T. K., Magadum, A., Fargnoli, A., Yoon, S., Chepurko, E., Chepurko, V., Eliyahu, E., Pinto, D., Lebeche, D., & 4 othersKovacic, J. C., Hajjar, R. J., Rafii, S. & Zangi, L., 6 Oct 2021, In: Molecular Therapy. 29, 10, p. 3042-3058 17 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    12 Scopus citations

  • Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders

    The PsychENCODE Consortium, 1 Dec 2021, In: Nature Communications. 12, 1, 3968.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    24 Scopus citations

  • Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

    Munn-Chernoff, M. A., Johnson, E. C., Chou, Y. L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hübel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppä, V. M., Mattheisen, M., Ripke, S., Yao, S., Giusti-Rodríguez, P., & 332 othersHanscombe, K. B., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Berrettini, W. H., Boehm, I., Boni, C., Boraska Perica, V., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., DeSocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramís, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernández-Aranda, F., Fichter, M. M., Fischer, K., Föcker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacos Mayora, M., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jiménez-Murcia, S., Julià, A., Kalsi, G., Kaminská, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. R., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., McDevitt, S., McGuffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op't Landt, M. C. T., Slopien, A., Sorbi, S., Świątkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Grove, J., Henders, A. K., Larsen, J. T., Parker, R., Petersen, L. V., Jordan, J., Kennedy, M. A., Birgegård, A., Lichtenstein, P., Norring, C., Landén, M., Mortensen, P. B., Polimanti, R., McClintick, J. N., Adkins, A. E., Aliev, F., Bacanu, S. A., Batzler, A., Bertelsen, S., Biernacka, J. M., Bigdeli, T. B., Chen, L. S., Clarke, T. K., Degenhardt, F., Docherty, A. R., Edwards, A. C., Foo, J. C., Fox, L., Frank, J., Hack, L. M., Hartmann, A. M., Hartz, S. M., Heilmann-Heimbach, S., Hodgkinson, C., Hoffmann, P., Hottenga, J. J., Konte, B., Lahti, J., Lahti-Pulkkinen, M., Lai, D., Ligthart, L., Loukola, A., Maher, B. S., Mbarek, H., McIntosh, A. M., McQueen, M. B., Meyers, J. L., Milaneschi, Y., Palviainen, T., Peterson, R. E., Ryu, E., Saccone, N. L., Salvatore, J. E., Sanchez-Roige, S., Schwandt, M., Sherva, R., Streit, F., Strohmaier, J., Thomas, N., Wang, J. C., Webb, B. T., Wedow, R., Wetherill, L., Wills, A. G., Zhou, H., Boardman, J. D., Chen, D., Choi, D. S., Copeland, W. E., Culverhouse, R. C., Dahmen, N., Degenhardt, L., Domingue, B. W., Frye, M. A., Gäebel, W., Hayward, C., Ising, M., Keyes, M., Kiefer, F., Koller, G., Kramer, J., Kuperman, S., Lucae, S., Lynskey, M. T., Maier, W., Mann, K., Männistö, S., Müller-Myhsok, B., Murray, A. D., Nurnberger, J. I., Preuss, U., Räikkönen, K., Reynolds, M. D., Ridinger, M., Scherbaum, N., Schuckit, M. A., Soyka, M., Treutlein, J., Witt, S. H., Wodarz, N., Zill, P., Adkins, D. E., Boomsma, D. I., Bierut, L. J., Brown, S. A., Bucholz, K. K., Costello, E. J., de Wit, H., Diazgranados, N., Eriksson, J. G., Farrer, L. A., Foroud, T. M., Gillespie, N. A., Goate, A. M., Goldman, D., Grucza, R. A., Hancock, D. B., Harris, K. M., Hesselbrock, V., Hewitt, J. K., Hopfer, C. J., Iacono, W. G., Johnson, E. O., Karpyak, V. M., Kendler, K. S., Kranzler, H. R., Krauter, K., Lind, P. A., McGue, M., MacKillop, J., Madden, P. A. F., Maes, H. H., Magnusson, P. K. E., Nelson, E. C., Nöthen, M. M., Palmer, A. A., Penninx, B. W. J. H., Porjesz, B., Rice, J. P., Rietschel, M., Riley, B. P., Rose, R. J., Shen, P. H., Silberg, J., Stallings, M. C., Tarter, R. E., Vanyukov, M. M., Vrieze, S., Wall, T. L., Whitfield, J. B., Zhao, H., Neale, B. M., Wade, T. D., Heath, A. C., Montgomery, G. W., Martin, N. G., Sullivan, P. F., Kaprio, J., Breen, G., Gelernter, J., Edenberg, H. J., Bulik, C. M. & Agrawal, A., Jan 2021, In: Addiction Biology. 26, 1, e12880.

    Research output: Contribution to journal › Article › peer-review

    19 Scopus citations
  • 2020

    Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

    Eating Disorders Working Group of the Psychiatric Genomics Consortium, International Headache Genetics Consortium & 23andMe Research Team, 1 May 2020, In: Nature Genetics. 52, 5, p. 482-493 12 p.

    Research output: Contribution to journal › Article › peer-review

    116 Scopus citations

  • Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis

    Holmes, G., Gonzalez-Reiche, A. S., Lu, N., Zhou, X., Rivera, J., Kriti, D., Sebra, R., Williams, A. A., Donovan, M. J., Potter, S. S., Pinto, D., Zhang, B., van Bakel, H. & Jabs, E. W., 7 Jul 2020, In: Cell Reports. 32, 1, 107871.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    25 Scopus citations

  • mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

    Nguyen, T. H., Dobbyn, A., Brown, R. C., Riley, B. P., Buxbaum, J. D., Pinto, D., Purcell, S. M., Sullivan, P. F., He, X. & Stahl, E. A., 1 Dec 2020, In: Nature Communications. 11, 1, 2929.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    5 Scopus citations
  • 2019

    Associations Between Attention-Deficit/Hyperactivity Disorder and Various Eating Disorders: A Swedish Nationwide Population Study Using Multiple Genetically Informative Approaches

    Eating Disorders Working Group of the Psychiatric Genomics Consortium, 15 Oct 2019, In: Biological Psychiatry. 86, 8, p. 577-586 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    31 Scopus citations

  • Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

    Anorexia Nervosa Genetics Initiative & Eating Disorders Working Group of the Psychiatric Genomics Consortium, 1 Aug 2019, In: Nature Genetics. 51, 8, p. 1207-1214 8 p.

    Research output: Contribution to journal › Article › peer-review

    400 Scopus citations

  • Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

    Wellcome Trust Case-Control Consortium, Cross-Disorder Group of the Psychiatric Genomics Consortium, 23andMe Research Team & Psychosis Endophenotypes International Consortium, 12 Dec 2019, In: Cell. 179, 7, p. 1469-1482.e11

    Research output: Contribution to journal › Article › peer-review

    Open Access
    551 Scopus citations
  • 2018

    Analysis of shared heritability in common disorders of the brain

    The Brainstorm Consortium, 22 Jun 2018, In: Science. 360, 6395, 8757.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    1092 Scopus citations

  • Influenza virus infection causes global RNAPII termination defects

    Zhao, N., Sebastiano, V., Moshkina, N., Mena, N., Hultquist, J., Jimenez-Morales, D., Ma, Y., Rialdi, A., Albrecht, R., Fenouil, R., Sánchez-Aparicio, M. T., Ayllon, J., Ravisankar, S., Haddad, B., Ho, J. S. Y., Low, D., Jin, J., Yurchenko, V., Prinjha, R. K., Tarakhovsky, A., & 13 othersSquatrito, M., Pinto, D., Allette, K., Byun, M., Smith, M. L., Sebra, R., Guccione, E., Tumpey, T., Krogan, N., Greenbaum, B., van Bakel, H., García-Sastre, A. & Marazzi, I., 1 Sep 2018, In: Nature Structural and Molecular Biology. 25, 9, p. 885-893 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    29 Scopus citations

  • Integrative functional genomic analysis of human brain development and neuropsychiatric risks

    BrainSpan Consortium, PsychENCODE Consortium & PsychENCODE Developmental Subgroup, 14 Dec 2018, In: Science. 362, 6420, 1264.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    331 Scopus citations

  • Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

    Huckins, L. M., Hatzikotoulas, K., Southam, L., Thornton, L. M., Steinberg, J., Aguilera-Mckay, F., Treasure, J., Schmidt, U., Gunasinghe, C., Romero, A., Curtis, C., Rhodes, D., Moens, J., Kalsi, G., Dempster, D., Leung, R., Keohane, A., Burghardt, R., Ehrlich, S., Hebebrand, J., & 214 othersHinney, A., Ludolph, A., Walton, E., Deloukas, P., Hofman, A., Palotie, A., Palta, P., van Rooij, F. J. A., Stirrups, K., Adan, R., Boni, C., Cone, R., Dedoussis, G., van Furth, E., Gonidakis, F., Gorwood, P., Hudson, J., Kaprio, J., Kas, M., Keski-Rahonen, A., Kiezebrink, K., Knudsen, G. P., Slof-Op ’T Landt, M. C. T., Maj, M., Monteleone, A. M., Monteleone, P., Raevuori, A. H., Reichborn-Kjennerud, T., Tozzi, F., Tsitsika, A., Elburg, A., Collier, D. A., Sullivan, P. F., Breen, G., Bulik, C. M., Zeggini, E., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Aschauer, H., Baker, J. H., Barrett, J. C., Bencko, V., Bergen, A. W., Berrettini, W. H., Birgegård, A., Boni, C., Perica, V. B., Brandt, H., Bulik, C. M., Carlberg, L., Cassina, M., Cichon, S., Clementi, M., Cohen-Woods, S., Coleman, J., Cone, R. D., Courtet, P., Crawford, S., Crow, S., Crowley, J., Danner, U. N., Davis, O. S. P., Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Ding, B., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L., Egberts, K., Escaramís, G., Esko, T., Espeseth, T., Estivill, X., Favaro, A., Fernández-Aranda, F., Fichter, M. M., Finan, C., Fischer, K., Floyd, J. A. B., Foretova, L., Forzan, M., Franklin, C. S., Gallinger, S., Gambaro, G., Gaspar, H. A., Giegling, I., Gonidakis, F., Gorwood, P., Gratacos, M., Guillaume, S., Guo, Y., Hakonarson, H., Halmi, K. A., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Hilliard, C. E., Hübel, C., Huckins, L. M., Hudson, J. I., Huemer, J., Inoko, H., Janout, V., Jiménez-Murcia, S., Johnson, C., Julià, A., Juréus, A., Kalsi, G., Kaminska, D., Kaplan, A. S., Karhunen, L., Karwautz, A., Kas, M. J. H., Kaye, W., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Klareskog, L., Klump, K. L., Knudsen, G. P. S., Koeleman, B. P. C., Koubek, D., Via, MC. C. L., Landén, M., Hellard, S. L., Levitan, R. D., Li, D., Lichtenstein, P., Lilenfeld, L., Lissowska, J., Lundervold, A., Magistretti, P., Mannik, K., Marsal, S., Martin, N., Mattingsdal, M., McDevitt, S., McGuffin, P., Merl, E., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, J., Mitchell, K., Mortensen, P., Munn-Chernoff, M. A., Navratilova, M., Nilsson, I., Norring, C., Ntalla, I., Ophoff, R. A., O'toole, J. K., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Rajewski, A., Ramoz, N., Rayner, N. W., Reichborn-Kjennerud, T., Ripatti, S., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Slachtova, L., Sladek, R., Slagboom, P. E., Slopien, A., Soranzo, N., Southam, L., Steen, V. M., Strengman, E., Strober, M., Szatkiewicz, J. P., Szeszenia-Dabrowska, N., Tachmazidou, I., Tenconi, E., Thornton, L. M., Tortorella, A., Tozzi, F., Tziouvas, K., Elburg, A. A., Furth, E. F., Wagner, G., Walton, E., Watson, H., Wichmann, H. E., Widen, E., Woodside, D. B., Yanovski, J., Yao, S., Yilmaz, Z., Zeggini, E., Zerwas, S. & Zipfel, S., 1 May 2018, In: Molecular Psychiatry. 23, 5, p. 1169-1180 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    26 Scopus citations

  • Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

    the CommonMind Consortium, 7 Jun 2018, In: American Journal of Human Genetics. 102, 6, p. 1169-1184 16 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    69 Scopus citations

  • Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

    Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., Van Bakel, H., Varghese, M., Wang, Y., Shieh, A. W., Haney, J., Parhami, S., Belmont, J., Kim, M., Losada, P. M., Khan, Z., Mleczko, J., Xia, Y., Dai, R., & 15 othersWang, D., Yang, Y. T., Xu, M., Fish, K., Hof, P. R., Warrell, J., Fitzgerald, D., White, K., Jaffe, A. E., Peters, M. A., Gerstein, M., Liu, C., Iakoucheva, L. M., Pinto, D. & Geschwind, D. H., 14 Dec 2018, In: Science. 362, 6420, 1265.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    551 Scopus citations
  • 2017

    A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

    Li, D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., Mentch, F. D., & 179 othersThomas, K. A., Chiavacci, R. M., Cone, R., Li, B., Sleiman, P. A., Hakonarson, H., Perica, V. B., Franklin, C. S., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., Adan, R. A. H., Kas, M. J. H., Favaro, A., Santonastaso, P., Fernánde-Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Keski-Rahkonen, A., Raevuori-Helkamaa, A., Furth, E. F. V., Slof-Opt Landt, M. C. T., Hudson, J. I., Reichborn-Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Karwautz, A., Berrettini, W. H., Schork, N. J., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J. H., DeSocio, J. E., Hilliard, C. E., O'Toole, J. K., Pantel, J., Szatkiewicz, J. P., Zerwas, S., Davis, O. S. P., Helder, S., Bühren, K., Burghardt, R., De Zwaan, M., Egberts, K., Ehrlich, S., Herpertz-Dahlmann, B., Herzog, W., Imgart, H., Scherag, A., Zipfel, S., Boni, C., Ramoz, N., Versini, A., Danner, U. N., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., Van Elburg, A. A., Bruson, A., Clementi, M., Degortes, D., Forzan, M., Tenconi, E., Docampo, E., Escaramís, G., Jiménez-Murcia, S., Lissowska, J., Rajewski, A., Szeszenia-Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., DIkeos, DI., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen-Woods, S., Farmer, A., McGuffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. E., DIna, C., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, R., Gaborieau, V., DIck, D. M., Palotie, A., Ripatti, S., Widén, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., DIng, B., Klareskog, L., Padyukov, L., Finan, C., Kalsi, G., Roberts, M., Barrett, J. C., Estivill, X., Hinney, A., Sullivan, P. F., Zeggini, E., Bulik, C. M., Brandt, H., Crawford, S., Crow, S., Fichter, M. M., Halmi, K. A., Johnson, C., Kaplan, A. S., La Via, M. C., Mitchell, J., Strober, M., Rotondo, A., Treasure, J., Woodside, D. B., Keel, P. K., Klump, K. L., Lilenfeld, L., Bergen, A. W., Kaye, W. & Magistretti, P., 1 Dec 2017, In: Scientific Reports. 7, 1, 3847.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    20 Scopus citations

  • Characterization of large copy number variation in Mexican type 2 diabetes subjects

    Ascencio-Montiel, I. D. J., Pinto, D., Parra, E. J., Valladares-Salgado, A., Cruz, M. & Scherer, S. W., 2017, In: Scientific Reports. 7, 1, 17105.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    10 Scopus citations

  • Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

    Psychosis Endophenotypes International Consortium & CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, 1 Jan 2017, In: Nature Genetics. 49, 1, p. 27-35 9 p.

    Research output: Contribution to journal › Article › peer-review

    590 Scopus citations

  • De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome

    Sagar, A., Pinto, D., Najjar, F., Guter, S. J., Macmillan, C. & Cook, E. H., Jun 2017, In: American Journal of Medical Genetics, Part A. 173, 6, p. 1656-1662 7 p.

    Research output: Contribution to journal › Article › peer-review

    8 Scopus citations

  • Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

    Children's Hospital of Philadelphia/Price Foundation, GCAN, WTCCC3, GIANT, EGG & Price Foundation Collaborative Group, 1 Feb 2017, In: Molecular Psychiatry. 22, 2, p. 192-201 10 p.

    Research output: Contribution to journal › Article › peer-review

    47 Scopus citations

  • Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: Clinical and therapeutic implications

    Ombrello, M. J., Arthur, V. L., Remmers, E. F., Hinks, A., Tachmazidou, I., Grom, A. A., Foell, D., Martini, A., Gattorno, M., Özen, S., Prahalad, S., Zeft, A. S., Bohnsack, J. F., Ilowite, N. T., Mellins, E. D., Russo, R., Len, C., Hilario, M. O. E., Oliveira, S., Yeung, R. S. M., & 29 othersRosenberg, A. M., Wedderburn, L. R., Anton, J., Haas, J. P., Rosen-Wolff, A., Minden, K., Tenbrock, K., Demirkaya, E., Cobb, J., Baskin, E., Signa, S., Shuldiner, E., Duerr, R. H., Achkar, J. P., Kamboh, M. I., Kaufman, K. M., Kottyan, L. C., Pinto, D., Scherer, S. W., Alarcón-Riquelme, M. E., Docampo, E., Estivill, X., Gül, A., Langefeld, C. D., Thompson, S., Zeggini, E., Kastner, D. L., Woo, P. & Thomson, W., 1 May 2017, In: Annals of the Rheumatic Diseases. 76, 5, 210324.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    95 Scopus citations

  • Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

    Nguyen, H. T., Bryois, J., Kim, A., Dobbyn, A., Huckins, L. M., Munoz-Manchado, A. B., Ruderfer, D. M., Genovese, G., Fromer, M., Xu, X., Pinto, D., Linnarsson, S., Verhage, M., Smit, A. B., Hjerling-Leffler, J., Buxbaum, J. D., Hultman, C., Sklar, P., Purcell, S. M., Lage, K., & 3 othersHe, X., Sullivan, P. F. & Stahl, E. A., 20 Dec 2017, In: Genome Medicine. 9, 1, 114.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    50 Scopus citations

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Anney, R. J. L., Ripke, S., Anttila, V., Grove, J., Holmans, P., Huang, H., Klei, L., Lee, P. H., Medland, S. E., Neale, B., Robinson, E., Weiss, L. A., Zwaigenbaum, L., Yu, T. W., Wittemeyer, K., Willsey, A. J., Wijsman, E. M., Werge, T., Wassink, T. H., Waltes, R., & 143 othersWalsh, C. A., Wallace, S., Vorstman, J. A. S., Vieland, V. J., Vicente, A. M., Vanengeland, H., Tsang, K., Thompson, A. P., Szatmari, P., Svantesson, O., Steinberg, S., Stefansson, K., Stefansson, H., State, M. W., Soorya, L., Silagadze, T., Scherer, S. W., Schellenberg, G. D., Sandin, S., Sanders, S. J., Saemundsen, E., Rouleau, G. A., Rogé, B., Roeder, K., Roberts, W., Reichert, J., Reichenberg, A., Rehnström, K., Regan, R., Poustka, F., Poultney, C. S., Piven, J., Pinto, D., Pericak-Vance, M. A., Pejovic-Milovancevic, M., Pedersen, M. G., Pedersen, C. B., Paterson, A. D., Parr, J. R., Pagnamenta, A. T., Oliveira, G., Nurnberger, J. I., Nordentoft, M., Murtha, M. T., Mouga, S., Mortensen, P. B., Mors, O., Morrow, E. M., Moreno-De-Luca, D., Monaco, A. P., Minshew, N., Merikangas, A., McMahon, W. M., McGrew, S. G., Mattheisen, M., Martsenkovsky, I., Martin, D. M., Mane, S. M., Magnusson, P., Magalhaes, T., Maestrini, E., Lowe, J. K., Lord, C., Levitt, P., Martin, C. L., Ledbetter, D. H., Leboyer, M., Lecouteur, A. S., Ladd-Acosta, C., Kolevzon, A., Klauck, S. M., Jacob, S., Iliadou, B., Hultman, C. M., Hougaard, D. M., Hertz-Picciotto, I., Hendren, R., Hansen, C. S., Haines, J. L., Guter, S. J., Grice, D. E., Green, J. M., Green, A., Goldberg, A. P., Gillberg, C., Gilbert, J., Gallagher, L., Freitag, C. M., Fombonne, E., Folstein, S. E., Fernandez, B., Fallin, M. D., Ercan-Sencicek, A. G., Ennis, S., Duque, F., Duketis, E., Delorme, R., Derubeis, S., Dejonge, M. V., Dawson, G., Cuccaro, M. L., Correia, C. T., Conroy, J., Conceição, I. C., Chiocchetti, A. G., Celestino-Soper, P. B. S., Casey, J., Cantor, R. M., Café, C., Bybjerg-Grauholm, J., Brennan, S., Bourgeron, T., Bolton, P. F., Bölte, S., Bolshakova, N., Betancur, C., Bernier, R., Beaudet, A. L., Battaglia, A., Bal, V. H., Baird, G., Bailey, A. J., Bækvad-Hansen, M., Bader, J. S., Bacchelli, E., Anagnostou, E., Amaral, D., Almeida, J., Børglum, A. D., Buxbaum, J. D., Chakravarti, A., Cook, E. H., Coon, H., Geschwind, D. H., Gill, M., Hallmayer, J., Palotie, A., Santangelo, S., Sutcliffe, J. S., Arking, D. E., Devlin, B., Daly, M. J. & Hakonarson, H., 22 May 2017, In: Molecular Autism. 8, 1, 21.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    85 Scopus citations

  • Parallel changes in serum proteins and diffusion tensor imaging in methamphetamine-associated psychosis

    Breen, M. S., Uhlmann, A., Ozcan, S., Chan, M., Pinto, D., Bahn, S. & Stein, D. J., 2 Mar 2017, In: Scientific Reports. 7, 43777.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    8 Scopus citations

  • Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

    Psychiatric Genomics Consortium Autism Group & iPSYCH-Broad Autism Group, 1 Jul 2017, In: Nature Genetics. 49, 7, p. 978-985 8 p.

    Research output: Contribution to journal › Article › peer-review

    277 Scopus citations

  • Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa

    Duncan, L., Yilmaz, Z., Gaspar, H., Walters, R., Goldstein, J., Anttila, V., Bulik-Sullivan, B., Ripke, S., Thornton, L., Hinney, A., Daly, M., Sullivan, P. F., Zeggini, E., Breen, G., Bulik, C. M., Duncan, L., Yilmaz, Z., Gaspar, H., Walters, R., Goldstein, J., & 213 othersAnttila, V., Ripke, S., Adan, R., Alfredsson, L., Ando, T., Andreassen, O., Aschauer, H., Baker, J., Barrett, J., Bencko, V., Bergen, A., Berrettini, W., Birgegård, A., Boni, C., Perica, V. B., Brandt, H., Burghardt, R., Carlberg, L., Cassina, M., Cesta, C., Cichon, S., Clementi, M., Cohen-Woods, S., Coleman, J., Cone, R., Courtet, P., Crawford, S., Crow, S., Crowley, J., Danner, U., Davis, O., de Zwaan, M., Dedoussis, G., Degortes, D., DeSocio, J., Danielle, D. N., Dikeos, D., Dina, C., Ding, B., Dmitrzak-Weglarz, M., Docampo, E., Egberts, K., Ehrlich, S., Escaramís, G., Esko, T., Espeseth, T., Estivill, X., Favaro, A., Fernández-Aranda, F., Fichter, M., Finan, C., Fischer, K., Floyd, J., Föcker, M., Foretova, L., Forzan, M., Fox, C., Franklin, C., Gaborieau, V., Gallinger, S., Gambaro, G., Giegling, I., Gonidakis, F., Gorwood, P., Gratacos, M., Guillaume, S., Guo, Y., Hakonarson, H., Halmi, K., Harrison, R., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S., Hendriks, J., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Hilliard, C., Huckins, L., Hudson, J., Huemer, J., Imgart, H., Inoko, H., Jall, S., Jamain, S., Janout, V., Jiménez-Murcia, S., Johnson, C., Jordan, J., Julià, A., Juréus, A., Kalsi, G., Kaplan, A., Kaprio, J., Karhunen, L., Karwautz, A., Kas, M., Kaye, W., Kennedy, M., Kennedy, J., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. R., Klareskog, L., Klump, K., Knudsen, G. P., Koeleman, B., Koubek, D., La Via, M., Landén, M., Le Hellard, S., Leboyer, M., Levitan, R., Li, D., Lichtenstein, P., Lilenfeld, L., Lissowska, J., Lundervold, A., Magistretti, P., Maj, M., Mannik, K., Marsal, S., Kaminska, D., Martin, N., Mattingsdal, M., McDevitt, S., McGuffin, P., Merl, E., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, J., Mitchell, K., Monteleone, P., Monteleone, A. M., Montgomery, G., Mortensen, P., Munn-Chernoff, M., Müller, T., Nacmias, B., Navratilova, M., Nilsson, I., Norring, C., Ntalla, I., Ophoff, R., O’Toole, J., Palotie, A., Pantel, J., Papezova, H., Parker, R., Pinto, D., Rabionet, R., Raevuori, A., Rajewski, A., Ramoz, N., William Rayner, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S., Schmidt, U., Schork, N., Schosser, A., Scott, L., Seitz, J., Slachtova, L., Sladek, R., Eline Slagboom, P., Slof-Op ’t Landt, M., Slopien, A., Smith, T., Soranzo, N., Sorbi, S., Southam, L., Steen, V., Strengman, E., Strober, M., Szatkiewicz, J., Szeszenia-Dabrowska, N., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tschöp, M., Tsitsika, A., Tziouvas, K., van Elburg, A., van Furth, E., Wade, T., Wagner, G., Walton, E., Watson, H., Wichmann, H. E., Widen, E., Woodside, B., Yanovski, J., Yao, S., Zerwas, S., Zipfel, S., Thornton, L., Hinney, A., Daly, M., Zeggini, E. & Bulik, C. M., 1 Sep 2017, In: American Journal of Psychiatry. 174, 9, p. 850-858 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    284 Scopus citations
  • 2016

    Gene expression elucidates functional impact of polygenic risk for schizophrenia

    Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., Klei, L. L., Kramer, R., Pinto, D., Gümüş, Z. H., Cicek, A. E., Dang, K. K., Browne, A., Lu, C., Xie, L., Readhead, B., & 38 othersStahl, E. A., Xiao, J., Parvizi, M., Hamamsy, T., Fullard, J. F., Wang, Y. C., Mahajan, M. C., Derry, J. M. J., Dudley, J. T., Hemby, S. E., Logsdon, B. A., Talbot, K., Raj, T., Bennett, D. A., De Jager, P. L., Zhu, J., Zhang, B., Sullivan, P. F., Chess, A., Purcell, S. M., Shinobu, L. A., Mangravite, L. M., Toyoshiba, H., Gur, R. E., Hahn, C. G., Lewis, D. A., Haroutunian, V., Peters, M. A., Lipska, B. K., Buxbaum, J. D., Schadt, E. E., Hirai, K., Roeder, K., Brennand, K. J., Katsanis, N., Domenici, E., Devlin, B. & Sklar, P., 26 Oct 2016, In: Nature Neuroscience. 19, 11, p. 1442-1453 12 p.

    Research output: Contribution to journal › Review article › peer-review

    610 Scopus citations

  • Identification of novel genetic causes of Rett syndrome-like phenotypes

    Lopes, F., Barbosa, M., Ameur, A., Soares, G., De Sá, J., Dias, A. I., Oliveira, G., Cabral, P., Temudo, T., Calado, E., Cruz, I. F., Vieira, J. P., Oliveira, R., Esteves, S., Sauer, S., Jonasson, I., Syvänen, A. C., Gyllensten, U., Pinto, D. & Maciel, P., 2016, In: Journal of Medical Genetics. 53, 3, p. 190-199 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    118 Scopus citations

  • Phenotypic association analyses with copy number variation in recurrent depressive disorder

    Rucker, J. J. H., Tansey, K. E., Rivera, M., Pinto, D., Cohen-Woods, S., Uher, R., Aitchison, K. J., Craddock, N., Owen, M. J., Jones, L., Jones, I., Korszun, A., Barnes, M. R., Preisig, M., Mors, O., Maier, W., Rice, J., Rietschel, M., Holsboer, F., Farmer, A. E., & 4 othersCraig, I. W., Scherer, S. W., McGuffin, P. & Breen, G., 15 Feb 2016, In: Biological Psychiatry. 79, 4, p. 329-336 8 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    17 Scopus citations
  • 2015

    Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)

    Dhanraj, S., Gunja, S. M. R., Deveau, A. P., Nissbeck, M., Boonyawat, B., Coombs, A. J., Renieri, A., Mucciolo, M., Marozza, A., Buoni, S., Turner, L., Li, H., Jarrar, A., Sabanayagam, M., Kirby, M., Shago, M., Pinto, D., Berman, J. N., Scherer, S. W., Virtanen, A., & 1 othersDror, Y., 4 Sep 2015, In: Journal of Medical Genetics. 52, 11, p. 738-748 11 p.

    Research output: Contribution to journal › Article › peer-review

    63 Scopus citations

  • HLA-DRB1∗11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis

    Ombrello, M. J., Remmers, E. F., Tachmazidou, I., Grom, A., Foell, D., Haas, J. P., Martini, A., Gattorno, M., Özen, S., Prahalad, S., Zeft, A. S., Bohnsack, J. F., Mellins, E. D., Ilowite, N. T., Russo, R., Len, C., Hilario, M. O. E., Oliveira, S., Yeung, R. S. M., Rosenberg, A., & 30 othersWedderburn, L. R., Anton, J., Schwarza, T., Hinksb, A., Bilginer, Y., Park, J., Cobb, J., Satorius, C. L., Han, B., Baskin, E., Signa, S., Duerr, R. H., Achkar, J. P., Kamboh, M. I., Kaufman, K. M., Kottyan, L. C., Pinto, D., Scherer, S. W., Alarcón-Riquelme, M. E., Docampo, E., Estivill, X., Gül, A., De Bakker, P. I. W., Raychaudhuri, S., Langefeld, C. D., Thompson, S., Zeggini, E., Thomson, W., Kastner, D. L. & Woo, P., 29 Dec 2015, In: Proceedings of the National Academy of Sciences of the United States of America. 112, 52, p. 15970-15975 6 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    104 Scopus citations

  • Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

    Addis, L., Ahn, J. W., Dobson, R., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H., Chaste, P., Wilson, S., Parr, J. R., Andrieux, J., Lenne, B., Tumer, Z., Leuzzi, V., Aubell, K., Koillinen, H., Curran, S., Marshall, C. R., Scherer, S. W., & 3 othersStrug, L. J., Collier, D. A. & Pal, D. K., 1 Sep 2015, In: Human Mutation. 36, 9, p. 842-850 9 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    35 Scopus citations

  • The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

    Merikangas, A. K., Segurado, R., Heron, E. A., Anney, R. J. L., Paterson, A. D., Cook, E. H., Pinto, D., Scherer, S. W., Szatmari, P., Gill, M., Corvin, A. P. & Gallagher, L., 1 Nov 2015, In: Molecular Psychiatry. 20, 11, p. 1366-1372 7 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    26 Scopus citations

  • The PsychENCODE project

    Akbarian, S., Liu, C., Knowles, J. A., Vaccarino, F. M., Farnham, P. J., Crawford, G. E., Jaffe, A. E., Pinto, D., Dracheva, S., Geschwind, D. H., Mill, J., Nairn, A. C., Abyzov, A., Pochareddy, S., Prabhakar, S., Weissman, S., Sullivan, P. F., State, M. W., Weng, Z., Peters, M. A., & 64 othersWhite, K. P., Gerstein, M. B., Amiri, A., Armoskus, C., Ashley-Koch, A. E., Bae, T., Beckel-Mitchener, A., Berman, B. P., Coetzee, G. A., Coppola, G., Francoeur, N., Fromer, M., Gao, R., Grennan, K., Herstein, J., Kavanagh, D. H., Ivanov, N. A., Jiang, Y., Kitchen, R. R., Kozlenkov, A., Kundakovic, M., Li, M., Li, Z., Liu, S., Mangravite, L. M., Mattei, E., Markenscoff-Papadimitriou, E., Navarro, F. C. P., North, N., Omberg, L., Panchision, D., Parikshak, N., Poschmann, J., Price, A. J., Purcaro, M., Reddy, T. E., Roussos, P., Schreiner, S., Scuderi, S., Sebra, R., Shibata, M., Shieh, A. W., Skarica, M., Sun, W., Swarup, V., Thomas, A., Tsuji, J., Van Bakel, H., Wang, D., Wang, Y., Wang, K., Werling, D. M., Willsey, A. J., Witt, H., Won, H., Wong, C. C. Y., Wray, G. A., Wu, E. Y., Xu, X., Yao, L., Senthil, G., Lehner, T., Sklar, P. & Sestan, N., 25 Nov 2015, In: Nature Neuroscience. 18, 12, p. 1707-1712 6 p.

    Research output: Contribution to journal › Review article › peer-review

    247 Scopus citations
  • 2014

    A CTNNA3 compound heterozygous deletion implicates a role for αt-catenin in susceptibility to autism spectrum disorder

    Bacchelli, E., Ceroni, F., Pinto, D., Lomartire, S., Giannandrea, M., D'Adamo, P., Bonora, E., Parchi, P., Tancredi, R., Battaglia, A. & Maestrini, E., 10 Jul 2014, In: Journal of Neurodevelopmental Disorders. 6, 1, 17.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    33 Scopus citations

  • A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma

    Ceroni, F., Sagar, A., Simpson, N. H., Gawthrope, A. J. T., Newbury, D. F., Pinto, D., Francis, S. M., Tessman, D. C., Cook, E. H., Monaco, A. P., Maestrini, E., Pagnamenta, A. T. & Jacob, S., Apr 2014, In: Autism Research. 7, 2, p. 254-263 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    28 Scopus citations

  • A genome-wide association study of anorexia nervosa

    The Wellcome Trust Case Control Consortium 3, 1 Oct 2014, In: Molecular Psychiatry. 19, 10, p. 1085-1094 10 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    210 Scopus citations

  • A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

    Oei, L., Hsu, Y. H., Styrkarsdottir, U., Eussen, B. H., de Klein, A., Peters, M. J., Halldorsson, B., Liu, C. T., Alonso, N., Kaptoge, S. K., Thorleifsson, G., Hallmans, G., Hocking, L. J., Husted, L. B., Jameson, K. A., Kingdom, M. K. U., Lewis, J. R., Patel, M. S., Scollen, S., Svensson, O., & 48 othersTrompet, S., van Schoor, N. M., Zhu, K., Buckley, B. M., Cooper, C., Ford, I., Goltzman, D., González-Macías, J., Langdahl, B. L., Leslie, W. D., Lips, P., Lorenc, R. S., Olmos, J. M., Pettersson-Kymmer, U., Reid, D. M., Riancho, J. A., Slagboom, P. E., Garcia-Ibarbia, C., Ingvarsson, T., Johannsdottir, H., Luben, R., Medina-Gómez, C., Arp, P., Nandakumar, K., Palsson, S. T., Sigurdsson, G., van Meurs, J. B. J., Zhou, Y., Hofman, A., Jukeme, J. W., Pols, H. A. P., Prince, R. L., Cupples, L. A., Marshall, C. R., Pinto, D., Sato, D. U. K., Scherer, S. W., Reeve, J., Thorsteinsdottir, U., Karasik, D., Richards, J. B., Stefansson, K., Uitterlinden, A. G., Ralston, S. H., Ioannidis, J. P. A., Kiel, D. P., Rivadeneira, F. & Estrada, K., 2014, In: Journal of Medical Genetics. 51, 2, p. 122-131 10 p.

    Research output: Contribution to journal › Article › peer-review

    27 Scopus citations

  • Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

    Uddin, M., Tammimies, K., Pellecchia, G., Alipanahi, B., Hu, P., Wang, Z., Pinto, D., Lau, L., Nalpathamkalam, T., Marshall, C. R., Blencowe, B. J., Frey, B. J., Merico, D., Yuen, R. K. C. & Scherer, S. W., Jul 2014, In: Nature Genetics. 46, 7, p. 742-747 6 p.

    Research output: Contribution to journal › Article › peer-review

    122 Scopus citations

  • Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

    Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., Vorstman, J. A. S., Thompson, A., Regan, R., Pilorge, M., Pellecchia, G., Pagnamenta, A. T., Oliveira, B., Marshall, C. R., Magalhaes, T. R., Lowe, J. K., & 92 othersHowe, J. L., Griswold, A. J., Gilbert, J., Duketis, E., Dombroski, B. A., De Jonge, M. V., Cuccaro, M., Crawford, E. L., Correia, C. T., Conroy, J., Conceição, I. C., Chiocchetti, A. G., Casey, J. P., Cai, G., Cabrol, C., Bolshakova, N., Bacchelli, E., Anney, R., Gallinger, S., Cotterchio, M., Casey, G., Zwaigenbaum, L., Wittemeyer, K., Wing, K., Wallace, S., Van Engeland, H., Tryfon, A., Thomson, S., Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McInnes, L. A., McGrew, S. G., Lord, C., Leboyer, M., Le Couteur, A. S., Kolevzon, A., Jiménez González, P., Jacob, S., Holt, R., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B. A., Duque, F., Delorme, R., Dawson, G., Chaste, P., Café, C., Brennan, S., Bourgeron, T., Bolton, P. F., Bölte, S., Bernier, R., Baird, G., Bailey, A. J., Anagnostou, E., Almeida, J., Wijsman, E. M., Vieland, V. J., Vicente, A. M., Schellenberg, G. D., Pericak-Vance, M., Paterson, A. D., Parr, J. R., Oliveira, G., Nurnberger, J. I., Monaco, A. P., Maestrini, E., Klauck, S. M., Hakonarson, H., Haines, J. L., Geschwind, D. H., Freitag, C. M., Folstein, S. E., Ennis, S., Coon, H., Battaglia, A., Szatmari, P., Sutcliffe, J. S., Hallmayer, J., Gill, M., Cook, E. H., Buxbaum, J. D., Devlin, B., Gallagher, L., Betancur, C. & Scherer, S. W., 1 May 2014, In: American Journal of Human Genetics. 94, 5, p. 677-694 18 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    241 Scopus citations

  • Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

    Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., Pinto, D., Howe, J., Lemière, N., Durand, C. M., Guibert, J., Ey, E., Toro, R., Peyre, H., Mathieu, A., Amsellem, F., & 40 othersRastam, M., Gillberg, I. C., Rappold, G. A., Holt, R., Monaco, A. P., Maestrini, E., Galan, P., Heron, D., Jacquette, A., Afenjar, A., Rastetter, A., Brice, A., Devillard, F., Assouline, B., Laffargue, F., Lespinasse, J., Chiesa, J., Rivier, F., Bonneau, D., Regnault, B., Zelenika, D., Delepine, M., Lathrop, M., Sanlaville, D., Schluth-Bolard, C., Edery, P., Perrin, L., Tabet, A. C., Schmeisser, M. J., Boeckers, T. M., Coleman, M., Sato, D., Szatmari, P., Scherer, S. W., Rouleau, G. A., Betancur, C., Leboyer, M., Gillberg, C., Delorme, R. & Bourgeron, T., 1 Sep 2014, In: PLoS Genetics. 10, 9

    Research output: Contribution to journal › Article › peer-review

    Open Access
    392 Scopus citations

  • Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

    Correia, C. T., Conceição, I. C., Oliveira, B., Coelho, J., Sousa, I., Sequeira, A. F., Almeida, J., Café, C., Duque, F., Mouga, S., Roberts, W., Gao, K., Lowe, J. K., Thiruvahindrapuram, B., Walker, S., Marshall, C. R., Pinto, D., Nurnberger, J. I., Scherer, S. W., Geschwind, D. H., & 2 othersOliveira, G. & Vicente, A. M., 10 Apr 2014, In: Molecular Autism. 5, 1, 28.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    8 Scopus citations

  • The Autism Simplex Collection: An international, expertly phenotyped autism sample for genetic and phenotypic analyses

    Buxbaum, J. D., Bolshakova, N., Brownfeld, J. M., Anney, R. J. L., Bender, P., Bernier, R., Cook, E. H., Coon, H., Cuccaro, M., Freitag, C. M., Hallmayer, J., Geschwind, D., Klauck, S. M., Nurnberger, J. I., Oliveira, G., Pinto, D., Poustka, F., Scherer, S. W., Shih, A., Sutcliffe, J. S., & 4 othersSzatmari, P., Vicente, A. M., Vieland, V. & Gallagher, L., 2014, In: Molecular Autism. 5, 1, 34.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    26 Scopus citations

  • The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

    Hadley, D., Wu, Z. L., Kao, C., Kini, A., Mohamed-Hadley, A., Thomas, K., Vazquez, L., Qiu, H., Mentch, F., Pellegrino, R., Kim, C., Connolly, J., Glessner, J., Hakonarson, H., Pinto, D., Merikangas, A., Klei, L., Vorstman, J. A. S., Thompson, A., Regan, R., & 78 othersPagnamenta, A. T., Oliveira, B., Magalhaes, T. R., Gilbert, J., Duketis, E., De Jonge, M. V., Cuccaro, M., Correia, C. T., Conroy, J., Conceiça, I. C., Chiocchetti, A. G., Casey, J. P., Bolshakova, N., Bacchelli, E., Anney, R., Zwaigenbaum, L., Wittemeyer, K., Wallace, S., Van Engeland, H., Soorya, L., Rogé, B., Roberts, W., Poustka, F., Mouga, S., Minshew, N., McGrew, S. G., Lord, C., Leboyer, M., Le Couteur, A. S., Kolevzon, A., Jacob, S., Guter, S., Green, J., Green, A., Gillberg, C., Fernandez, B. A., Duque, F., Delorme, R., Dawson, G., Brennan, S., Bourgeron, T., Bolton, P. F., Bölte, S., Bernier, R., Baird, G., Bailey, A. J., Anagnostou, E., Wijsman, E. M., Vieland, V. J., Vicente, A. M., Schellenberg, E. D., Pericak-Vance, M., Paterson, A. D., Parr, J. R., Oliveira, G., Almeida, J., Café, C., Nurnberger, J. I., Monaco, A. P., Maestrini, E., Klauck, S. M., Haines, J. L., Geschwind, D. H., Freitag, C. M., Folstein, S. E., Ennis, S., Coon, H., Battaglia, A., Szatmari, P., Sutcliffe, J. S., Hallmayer, J., Gill, M., Cook, E. H., Buxbaum, J. D., Devlin, B., Gallagher, L., Betancur, C. & Scherer, S. W., 13 Jun 2014, In: Nature Communications. 5, 4074.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    47 Scopus citations

  • Using ancestry-informative markers to identify fine structure across 15 populations of European origin

    Huckins, L. M., Boraska, V., Franklin, C. S., Floyd, J. A. B., Southam, L., Sullivan, P. F., Bulik, C. M., Collier, D. A., Tyler-Smith, C., Zeggini, E., Tachmazidou, I., Thornton, L. M., William Rayner, N., Klump, K. L., Treasure, J., Schmidt, U., Tozzi, F., Kiezebrink, K., Hebebrand, J., Gorwood, P., & 186 othersAdan, R. A. H., Kas, M. J. H., Favaro, A., Santonastaso, P., Fernández-Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Keski-Rahkonen, A., Raevuori, A., Van Furth, E. F., Slof-Op t Landt, M. C. T., Hudson, J. I., Reichborn-Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Kaplan, A. S., Karwautz, A., Hakonarson, H., Berrettini, W. H., Guo, Y., Li, D., Schork, N. J., Komaki, G., Ando, T., Inoko, H., Esko, T., Fischer, K., Männik, K., Metspalu, A., Baker, J. H., Cone, R. D., Dackor, J., DeSocio, J. E., Hilliard, C. E., O'Toole, J. K., Pantel, J., Szatkiewicz, J. P., Taico, C., Zerwas, S., Trace, S. E., Davis, O. S. P., Helder, S., Bühren, K., Burghardt, R., de Zwaan, M., Egberts, K., Ehrlich, S., Herpertz-Dahlmann, B., Herzog, W., Imgart, H., Scherag, S., Zipfel, S., Boni, C., Ramoz, N., Versini, A., Brandys, M. K., Danner, U. N., de Kovel, C., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., van Elburg, A. A., Bruson, A., Clementi, M., Degortes, D., Forzan, M., Tenconi, E., Docampo, E., Escaramís, G., Jiménez-Murcia, S., Lissowska, J., Rajewski, A., Szeszenia-Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen-Woods, S., Farmer, A., McGuffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. E., Dina, C., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, R., Gaborieau, V., Dick, D. M., Palotie, A., Ripatti, S., Widén, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., Ding, B., Klareskog, L., Padyukov, L., Finan, C., Kalsi, G., Roberts, M., Logan, D. W., Peltonen, L., Ritchie, G. R. S., Courtet, P., Guillame, S., Jaussent, I., Barrett, J. C., Estivill, X., Hinney, A., Bulik, C. M., McGinnis, R., Sambrook, J., Stephens, J., Ouwehand, W. H., McArdle, W. L., Ring, S. M., Strachan, D. P., Alexander, G., Conlon, P. J., Dominiczak, A., Anderson, C. A., Hill, A., Langford, C., Lord, G., Maxwell, A. P., Morgan, L., Sandford, R. N., Sheerin, N., Vannberg, F. O., Blackburn, H., Chen, W. M., Edkins, S., Gillman, M., Gray, E., Hunt, S. E., Onengut-Gumuscu, S., Potter, S., Rich, S. S., Simpkin, D. & Whittaker, P., 11 Oct 2014, In: European Journal of Human Genetics. 22, 10, p. 1190-1200 11 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    26 Scopus citations