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  1. Moreira, Alyne Riani; Pereira de Castro, Thamyres Barros; Kohler, Júlia Benini; Ito, Juliana Tiyaki; de França Silva, Larissa Emídio; Lourenço, Juliana Dias; Almeida, Rafael Ribeiro; Santana, Fernanda Roncon; Brito, Jose Mara; Rivero, Dolores Helena Rodriguez Ferreira; Vale, Maria Isabel Cardoso Alonso; Prado, Carla Máximo; Câmara, Niels Olsen Saraiva; Saldiva, Paulo Hilário Nascimento; Olivo, Clarice Rosa; Lopes, Fernanda Degobbi Tenorio Quirino dos Santos

    Chronic exposure to diesel particles worsened emphysema and increased M2-like phenotype macrophages in a PPE-induced model

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    Public Library of Science (PLoS), 2020

    Published in: PLOS ONE

  2. Kohler, Júlia Benini; Cervilha, Daniela Aparecida de Brito; Riani Moreira, Alyne; Santana, Fernanda Roncon; Farias, Talita M.; Alonso Vale, Maria Isabel Cardoso; Martins, Milton de Arruda; Prado, Carla Máximo; Tibério, Iolanda Calvo; Ito, Juliana Tiyaki; Lopes, Fernanda Degobbi Tenorio Quirino dos Santos

    Microenvironmental stimuli induce different macrophage polarizations in experimental models of emphysema

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    The Company of Biologists, 2019

    Published in: Biology Open

  3. Nikolaidis, Christos; Ming, Chang; Pedrazzani, Carla; van der Horst, Tina; Kaiser-Grolimund, Andrea; Ademi, Zanfina; Bührer-Landolt, Rosmarie; Bürki, Nicole; Caiata-Zufferey, Maria; Champion, Victoria; Chappuis, Pierre O.; Kohler, Carmen; Erlanger, Tobias E.; Graffeo, Rossella; Hampel, Heather; Heinimann, Karl; Heinzelmann-Schwarz, Viola; Kurzeder, Christian; Monnerat, Christian; Northouse, Laurel L.; Pagani, Olivia; Probst-Hensch, Nicole; Rabaglio, Manuela; Schoenau, Eveline; [...]

    Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop

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    S. Karger AG, 2018

    Published in: Public Health Genomics

  4. Ng, Bobby G.; Eklund, Erik A.; Shiryaev, Sergey A.; Dong, Yin Y.; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J.; Barr, Eileen; Bernstein, Jonathan A.; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K.; Ciliberto, Michael A.; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D.; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S.; Hoganson, George E.; Houck, Kimberly M.; Kohler, Jennefer N.; Morava, Eva; [...]

    Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

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    Wiley, 2020

    Published in: Journal of Inherited Metabolic Disease

  5. Rodrigues, Rodolpho Credo; Hasui, Érica; Assis, Julia Camara; Pena, João Carlos Castro; Muylaert, Renata L.; Tonetti, Vinicius Rodrigues; Martello, Felipe; Regolin, André Luis; Costa, Thiago Vernaschi Vieira da; Pichorim, Mauro; Carrano, Eduardo; Lopes, Leonardo Esteves; de Vasconcelos, Marcelo Ferreira; Fontana, Carla Suertegaray; Roos, Andrei Langeloh; Gonçalves, Fernando; Banks‐Leite, Cristina; Cavarzere, Vagner; Efe, Marcio Amorim; Alves, Maria Alice S.; Uezu, Alexandre; Metzger, Jean Paul; de Tarso Zuquim de Antas, Paulo; de Barros Ferraz, Katia Maria Paschoaletto Micchi; [...]

    ATLANTIC BIRD TRAITS: a data set of bird morphological traits from the Atlantic forests of South America

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    Wiley, 2019

    Published in: Ecology

  6. de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E.; Pedersen, Nancy L.; Stringa, Najada; Zettergren, Anna; Hernández, Isabel; Montrreal, Laura; Antúnez, Carmen; Antonell, Anna; Tankard, Rick M.; Bis, Joshua C.; Sims, Rebecca; Bellenguez, Céline; Quintela, Inés; González-Perez, Antonio; Calero, Miguel; Franco-Macías, Emilio; Macías, Juan; Blesa, Rafael; Cervera-Carles, Laura; [...]

    Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

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    Springer Science and Business Media LLC, 2023

    Published in: Nature Communications

  7. Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; ’t Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; [...]

    Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  8. Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; [...]

    Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  9. Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schüle, Rebecca; Synofzik, Matthis; Töpf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; ’t Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisèle; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; [...]

    Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  10. Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; [...]

    Solving unsolved rare neurological diseases—a Solve-RD viewpoint

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  11. Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

    Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  12. Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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    Springer Science and Business Media LLC, 2021

    Published in: European Journal of Human Genetics

  13. da Rosa, Clarissa Alves; Ribeiro, Bruno R.; Bejarano, Vanesa; Puertas, Fernando Henrique; Bocchiglieri, Adriana; dos Santos Barbosa, Adriana Loeser; Chiarello, Adriano Garcia; Paglia, Adriano Pereira; Pereira, Adriele Aparecida; de Souza Moreira, Adryelle Francisca; de Souza, Agnis Cristiane; Pellegrin, Aiesca; Gatica, Ailin; Medeiro, Akyllan Zoppi; Pereira, Alan Deivid; Braz, Alan Gerhardt; Yanosky, Alberto; Valenzuela, Alejandro Eduardo Jorge; Bertassoni, Alessandra; dos Santos Venturinido Prado, Alessandra; Nava, Alessandra Ferreira Dales; Rocha, Alessandro; Bovo, Alex Augusto Abreu; Bager, Alex; [...]

    NEOTROPICAL ALIEN MAMMALS : a data set of occurrence and abundance of alien mammals in the Neotropics

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    John Wiley and Sons, Inc., 2020

    Published in: Ecology

  14. Rosa, Clarissa Alves da; Ribeiro, Bruno R.; Bejarano, Vanesa; Puertas, Fernando Henrique; Bocchiglieri, Adriana; Barbosa, Adriana Loeser dos Santos; Chiarello, Adriano Garcia; Paglia, Adriano Pereira; Pereira, Adriele Aparecida; Moreira, Adryelle Francisca de Souza; Souza, Agnis Cristiane de; Pellegrin, Aiesca; Gatica, Ailin; Medeiro, Akyllan Zoppi; Pereira, Alan Deivid; Braz, Alan Gerhardt; Yanosky, Alberto; Valenzuela, Alejandro Eduardo Jorge; Bertassoni, Alessandra; Prado, Alessandra dos Santos Venturini do; Nava, Alessandra Ferreira Dales; Rocha, Alessandro; Bovo, Alex Augusto Abreu; Bager, Alex; [...]

    NEOTROPICAL ALIEN MAMMALS: a data set of occurrence and abundance of alien mammals in the Neotropics

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    Wiley, 2020

    Published in: Ecology

  15. de Rojas, Itziar; Moreno-Grau, Sonia; Tesi, Niccolo; Grenier-Boley, Benjamin; Andrade, Victor; Jansen, Iris E.; Pedersen, Nancy L.; Stringa, Najada; Zettergren, Anna; Hernández, Isabel; Montrreal, Laura; Antúnez, Carmen; Antonell, Anna; Tankard, Rick M.; Bis, Joshua C.; Sims, Rebecca; Bellenguez, Céline; Quintela, Inés; González-Perez, Antonio; Calero, Miguel; Franco-Macías, Emilio; Macías, Juan; Blesa, Rafael; Cervera-Carles, Laura; [...]

    Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

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    Springer Science and Business Media LLC, 2021

    Published in: Nature Communications

  16. Morleo, Manuela; Venditti, Rossella; Theodorou, Evangelos; Briere, Lauren C.; Rosello, Marion; Tirozzi, Alfonsina; Tammaro, Roberta; Al-Badri, Nour; High, Frances A.; Shi, Jiahai; Putti, Elena; Ferrante, Luigi; Cetrangolo, Viviana; Torella, Annalaura; Walker, Melissa A.; Tenconi, Romano; Iascone, Maria; Mei, Davide; Guerrini, Renzo; van der Smagt, Jasper; Kroes, Hester Y.; van Gassen, Koen L.I.; Bilal, Muhammad; Umair, Muhammad; [...]

    De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

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    Elsevier BV, 2023

    Published in: The American Journal of Human Genetics

  17. Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; [...]

    Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

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    Springer Science and Business Media LLC, 2023

    Published in: Human Genomics

  18. Le Guen, Yann; Luo, Guo; Ambati, Aditya; Damotte, Vincent; Jansen, Iris; Yu, Eric; Nicolas, Aude; de Rojas, Itziar; Peixoto Leal, Thiago; Miyashita, Akinori; Bellenguez, Céline; Lian, Michelle Mulan; Parveen, Kayenat; Morizono, Takashi; Park, Hyeonseul; Grenier-Boley, Benjamin; Naito, Tatsuhiko; Küçükali, Fahri; Talyansky, Seth D.; Yogeshwar, Selina Maria; Sempere, Vicente; Satake, Wataru; Alvarez, Victoria; Arosio, Beatrice; [...]

    Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

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    Proceedings of the National Academy of Sciences, 2023

    Published in: Proceedings of the National Academy of Sciences

  19. Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth; Ambrose, J.C.; Arumugam, P.; Bevers, R.; [...]

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

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    Elsevier BV, 2023

    Published in: Human Genetics and Genomics Advances