Dalila Pinto

2024

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

INCHARGE Consortium, 2024, (Accepted/In press) In: Arthritis and Rheumatology.

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

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

23 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

8 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

107 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

883 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

46 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

30 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

171 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

40 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

553 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

715 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

1303 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

441 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

87 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

715 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

687 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

112 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

58 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.

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Open Access

103 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

315 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

337 Scopus citations

2016

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

147 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

71 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

126 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

28 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

226 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

714 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 others, Rastam, 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

446 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 others, Oliveira, G. & Vicente, A. M., 10 Apr 2014, In: Molecular Autism. 5, 1, 28.

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

Open Access

9 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 others, Szatmari, 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

28 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 others, Pagnamenta, 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

54 Scopus citations

Dalila Pinto

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