Dalila Pinto

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Dalila Pinto

PhD

Calculated based on number of publications stored in Pure and citations from Scopus
1997 …2024

Research activity per year

Search results

  • 2024

    Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis

    INCHARGE Consortium, Oct 2024, In: Arthritis and Rheumatology. 76, 10, p. 1566-1572 7 p.

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

    Open Access

  • Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders

    Luo, J., Li, L., Niu, M., Kong, D., Jiang, Y., Poudel, S., Shieh, A. W., Cheng, L., Giase, G., Grennan, K., White, K. P., Chen, C., Wang, S. H., Pinto, D., Wang, Y., Liu, C., Peng, J. & Wang, X., 2024, (Accepted/In press) In: Molecular Psychiatry.

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

    Open Access
    1 Scopus citations

  • Shared Genetic Architecture Between Schizophrenia and Anorexia Nervosa: A Cross-trait Genome-Wide Analysis

    Eating Disorders Working Group of the Psychiatric Genomics Consortium, 1 Sep 2024, In: Schizophrenia Bulletin. 50, 5, p. 1255-1265 11 p.

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

    Open Access
  • 2023

    GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors

    Docherty, A. R., Mullins, N., Ashley-Koch, A. E., Qin, X., Coleman, J. R. I., Shabalin, A., Kang, J. E., Murnyak, B., Wendt, F., Adams, M., Campos, A. I., DiBlasi, E., Fullerton, J. M., Kranzler, H. R., Bakian, A. V., Monson, E. T., Rentería, M. E., Walss-Bass, C., Andreassen, O. A. & Behera, C. & 228 others, Bulik, C. M., Edenberg, H. J., Kessler, R. C., John Mann, J., Nurnberger, J. I., Pistis, G., Streit, F., Ursano, R. J., Polimanti, R., Dennis, M., Garrett, M., Hair, L., Harvey, P., Hauser, E. R., Hauser, M. A., Huffman, J., Jacobson, D., Madduri, R., McMahon, B., Oslin, D. W., Trafton, J., Awasthi, S., Berrettini, W. H., Bohus, M., Chang, X., Chen, H. C., Chen, W. J., Christensen, E. D. M. D., Crow, S., Duriez, P., Edwards, A. C., Fernández-Aranda, F., Galfalvy, H., Gandal, M., Gorwood, P., Guo, Y., Hafferty, J. D., Hakonarson, H., Halmi, K. A., Hishimoto, A., Jain, S., Jamain, S., Jiménez-Murcia, S., Johnson, C., Kaplan, A. S., Kaye, W. H., Keel, P. K., Kennedy, J. L., Kim, M., Klump, K. L., Levey, D. F., Li, D., Liao, S. C., Lieb, K., Lilenfeld, L., Marshall, C. R., Mitchell, J. E., Okazaki, S., Otsuka, I., Pinto, D., Powers, A., Ramoz, N., Ripke, S., Roepke, S., Rozanov, V., Scherer, S. W., Schmahl, C., Sokolowski, M., Starnawska, A., Strober, M., Su, M. H., Thornton, L. M., Treasure, J., Ware, E. B., Watson, H. J., Witt, S. H., Blake Woodside, D., Yilmaz, Z., Zillich, L., Adolfsson, R., Agartz, I., Alda, M., Alfredsson, L., Appadurai, V., Artigas, M. S., Van Der Auwera, S., Helena Azevedo, M., Bass, N., Bau, C. H. D., Baune, B. T., Bellivier, F., Berger, K., Biernacka, J. M., Bigdeli, T. B., Binder, E. B., Boehnke, M., Boks, M. P., Braff, D. L., Bryant, R., Budde, M., Byrne, E. M., Cahn, W., Castelao, E., Cervilla, J. A., Chaumette, B., Corvin, A., Craddock, N., Djurovic, S., Foo, J. C., Forstner, A. J., Frye, M., Gatt, J. M., Giegling, I., Grabe, H. J., Green, M. J., Grevet, E. H., Grigoroiu-Serbanescu, M., Gutierrez, B., Guzman-Parra, J., Hamshere, M. L., Hartmann, A. M., Hauser, J., Heilmann-Heimbach, S., Hoffmann, P., Ising, M., Jones, I., Jones, L. A., Jonsson, L., Kahn, R. S., Kelsoe, J. R., Kendler, K. S., Kloiber, S., Koenen, K. C., Kogevinas, M., Krebs, M. O., Landén, M., Leboyer, M., Lee, P. H., Levinson, D. F., Liao, C., Lissowska, J., Mayoral, F., McElroy, S. L., McGrath, P., McGuffin, P., McQuillin, A., Mehta, D., Melle, I., Mitchell, P. B., Molina, E., Morken, G., Nievergelt, C., Nöthen, M. M., O'Donovan, M. C., Ophoff, R. A., Owen, M. J., Pato, C., Pato, M. T., Penninx, B. W. J. H., Potash, J. B., Power, R. A., Preisig, M., Quested, D., Ramos-Quiroga, J. A., Reif, A., Ribasés, M., Richarte, V., Rietschel, M., Rivera, M., Roberts, A., Roberts, G., Rouleau, G. A., Rovaris, D. L., Sanders, A. R., Schofield, P. R., Schulze, T. G., Scott, L. J., Serretti, A., Shi, J., Sirignano, L., Sklar, P., Smeland, O. B., Smoller, J. W., Sonuga-Barke, E. J. S., Trzaskowski, M., Tsuang, M. T., Turecki, G., Vilar-Ribó, L., Vincent, J. B., Völzke, H., Walters, J. T. R., Weickert, C. S., Weickert, T. W., Weissman, M. M., Williams, L. M., Wray, N. R., Zai, C. C., Agerbo, E., Børglum, A. D., Breen, G., Demontis, D., Erlangsen, A., Gelernter, J., Glatt, S. J., Hougaard, D. M., Hwu, H. G., Kuo, P. H., Lewis, C. M., Li, Q. S., Liu, C. M., Martin, N. G., McIntosh, A. M., Medland, S. E., Mors, O., Nordentoft, M., Olsen, C. M., Porteous, D., Smith, D. J., Stahl, E. A., Stein, M. B., Wasserman, D., Werge, T., Whiteman, D. C., Willour, V., Coon, H., Beckham, J. C., Kimbrel, N. A. & Ruderfer, D. M., 2023, In: American Journal of Psychiatry. 180, 10, p. 723-738 16 p.

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

    Open Access
    26 Scopus citations

  • Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions

    Brain Somatic Mosaicism Network & Psychiatric Genomic Consortium Schizophrenia and CNV workgroup, 9 Aug 2023, In: Cell Genomics. 3, 8, 100356.

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

    Open Access
    7 Scopus citations
  • 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 others, Crow, 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
    9 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
    1 Scopus citations

  • 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
    111 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
    15 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

    Open Access
    946 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 others, Kovacic, 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
    23 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
    47 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 others, Hanscombe, 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

    Open Access
    31 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

    Open Access
    174 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
    42 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
    7 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
    41 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

    Open Access
    570 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
    732 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
    1313 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 others, Squatrito, 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
    39 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
    447 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 others, Hinney, 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, M. 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
    31 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
    89 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 others, Wang, 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
    722 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 others, Thomas, 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, 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., 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
    23 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

    Open Access
    693 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

    Open Access
    11 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

    Open Access
    50 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 others, Rosenberg, 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
    114 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 others, He, 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
    59 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 others, Walsh, 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
    104 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
    10 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

    Open Access
    317 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. J., Sullivan, P. F., Zeggini, E., Breen, G., Bulik, C. M., Duncan, L., Yilmaz, Z., Gaspar, H., Goldstein, J. & Anttila, V. & 210 others, 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., 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
    344 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 others, Stahl, 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

    Open Access
    725 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
    148 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 others, Craig, 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
    18 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 others, Dror, Y., 4 Sep 2015, In: Journal of Medical Genetics. 52, 11, p. 738-748 11 p.

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

    72 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 others, Wedderburn, 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
    127 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 others, Strug, 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
    41 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
    29 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 others, White, 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

    Open Access
    304 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
    35 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
    32 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
    227 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 others, Trompet, 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

    131 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 others, Howe, 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
    716 Scopus citations