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  1. Steinke, Eva [Author]; Sommerburg, Olaf [Author]; Gräber, Simon Y. [Author]; Joachim, Cornelia [Author]; Labitzke, Christiane [Author]; Nissen, Gyde Anna Simone [Author]; Ricklefs, Isabell [Author]; Rudolf, Isabel [Author]; Kopp, Matthias [Author]; Dittrich, Anna-Maria [Author]; Mall, Marcus A. [Author]; Stahl, Mirjam [Author]

    TRACK-CF prospective cohort study : understanding early cystic fibrosis lung disease

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    2022

    Published in: Frontiers in medicine ; 9(2022), Artikel-ID 1034290, Seite 1-11

  2. Kopf, Anna [Author]; Bicak, Mesude [Author]; Kottmann, Renzo [Author]; Schnetzer, Julia [Author]; Kostadinov, Ivaylo [Author]; Lehmann, Katja [Author]; Fernandez-Guerra, Antonio [Author]; Jeanthon, Christian [Author]; Rahav, Eyal [Author]; Ullrich, Matthias [Author]; Wichels, Antje [Author]; Gerdts, Gunnar [Author]; Polymenakou, Paraskevi [Author]; Kotoulas, Giorgos [Author]; Siam, Rania [Author]; Abdallah, Rehab Z [Author]; Sonnenschein, Eva C [Author]; Cariou, Thierry [Author]; O’Gara, Fergal [Author]; Jackson, Stephen [Author]; Orlic, Sandi [Author]; Steinke, Michael [Author]; Busch, Julia [Author]; Duarte, Bernardo [Author]; [...]

    The ocean sampling day consortium

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    Oxford Univ. Press, 2015-12

  3. Pierrotti, Ligia C.; Pérez‐Nadales, Elena; Fernández‐Ruiz, Mario; Gutiérrez‐Gutiérrez, Belén; Tan, Ban Hock; Carratalà, Jordi; Oriol, Isabel; Paul, Mical; Cohen‐Sinai, Noa; López‐Medrano, Francisco; San‐Juan, Rafael; Montejo, Miguel; Freire, Maristela P.; Cordero, Elisa; David, Miruna D.; Merino, Esperanza; Mehta Steinke, Seema; Grossi, Paolo A.; Cano, Ángela; Seminari, Elena M.; Valerio, Maricela; Gunseren, Filiz; Rana, Meenakshi; Mularoni, Alessandra; [...]

    Efficacy of β‐lactam/β‐lactamase inhibitors to treat extended‐spectrum beta‐lactamase‐producing Enterobacterales bacteremia secondary to urinary tract infection in kidney transplant recipients (INCREMENT‐SOT Project)

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    Wiley, 2021

    Published in: Transplant Infectious Disease, 23 (2021) 3

  4. São José, Celina; Garcia-Pelaez, José; Ferreira, Marta; Arrieta, Oscar; André, Ana; Martins, Nelson; Solís, Samantha; Martínez-Benítez, Braulio; Ordóñez-Sánchez, María Luisa; Rodríguez-Torres, Maribel; Sommer, Anna K.; te Paske, Iris B. A. W.; Caldas, Carlos; Tischkowitz, Marc; Tusié, Maria Teresa; Aretz, Stefan; Capella, Gabriel; Castedo, Sérgio; de Voer, Richarda M.; Evans, Gareth; Fernandes, Susana; Garcia-Pelaez, José; Garrido, Luzia; Holinski-Feder, Elke; [...]

    Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer

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    Springer Science and Business Media LLC, 2023

    Published in: Gastric Cancer, 26 (2023) 5, Seite 653-666

  5. Gutiérrez-Gutiérrez, Belén; Pérez-Nadales, Elena; Pérez-Galera, Salvador; Fernández-Ruiz, Mario; Carratalà, Jordi; Oriol, Isabel; Cordero, Elisa; Lepe, José Antonio; Tan, Ban Hock; Corbella, Laura; Paul, Mical; Natera, Alejandra M.; David, Miruna D.; Montejo, Miguel; Iyer, Ranganathan N.; Pierrotti, Ligia Camera; Merino, Esperanza; Steinke, Seema Mehta; Rana, Meenakshi M.; Muñoz, Patricia; Mularoni, Alessandra; van Delden, Christian; Grossi, Paolo Antonio; Seminari, Elena María; [...]

    Propensity Score and Desirability of Outcome Ranking Analysis of Ertapenem for Treatment of Nonsevere Bacteremic Urinary Tract Infections Due to Extended-Spectrum-Beta-Lactamase-Producing Enterobacterales in Kidney Transplant Recipients

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    American Society for Microbiology, 2021

    Published in: Antimicrobial Agents and Chemotherapy, 65 (2021) 11

  6. Pérez-Nadales, Elena; Fernández-Ruiz, Mario; Natera, Alejandra M.; Gutiérrez-Gutiérrez, Belén; Mularoni, Alessandra; Russelli, Giovanna; Pierrotti, Ligia Camera; Pinheiro Freire, Maristela; Falcone, Marco; Tiseo, Giusy; Tumbarello, Mario; Raffaelli, Francesca; Abdala, Edson; Bodro, Marta; Gervasi, Elena; Fariñas, María Carmen; Seminari, Elena M.; Castón, Juan José; Marín-Sanz, Juan Antonio; Gálvez-Soto, Víctor; Rana, Meenakshi M.; Loeches, Belén; Martín-Dávila, Pilar; Pascual, Álvaro; [...]

    Efficacy of ceftazidime-avibactam in solid organ transplant recipients with bloodstream infections caused by carbapenemase-producing Klebsiella pneumoniae

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    Elsevier BV, 2023

    Published in: American Journal of Transplantation, 23 (2023) 7, Seite 1022-1034

  7. Kopf, Anna; Bicak, Mesude; Kottmann, Renzo; Schnetzer, Julia; Kostadinov, Ivaylo; Lehmann, Katja; Fernandez-Guerra, Antonio; Jeanthon, Christian; Rahav, Eyal; Ullrich, Matthias; Wichels, Antje; Gerdts, Gunnar; Polymenakou, Paraskevi; Kotoulas, Giorgos; Siam, Rania; Abdallah, Rehab Z; Sonnenschein, Eva C; Cariou, Thierry; O’Gara, Fergal; Jackson, Stephen; Orlic, Sandi; Steinke, Michael; Busch, Julia; Duarte, Bernardo; [...]

    The ocean sampling day consortium

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    Oxford University Press (OUP), 2015

    Published in: GigaScience, 4 (2015) 1

  8. 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, 29 (2021) 9, Seite 1466-1469

  9. 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, 29 (2021) 9, Seite 1337-1347

  10. 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, 29 (2021) 9, Seite 1459-1461

  11. 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, 29 (2021) 9, Seite 1462-1465

  12. 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, 29 (2021) 9, Seite 1325-1331

  13. 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, 29 (2021) 9, Seite 1332-1336

  14. 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, 17 (2023) 1

  15. 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; Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; [...]

    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, 4 (2023) 2, Seite 100186

  16. Denommé-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marçais, Nolwenn; Kleefstra, Tjitske; López-Martín, Estrella; Macek, Milan; Mencarelli, Maria Antonietta; Moutton, Sébastien; [...]

    A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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    Elsevier BV, 2023

    Published in: Genetics in Medicine, 25 (2023) 4, Seite 100018

  17. Rich Abbott; Thomas D. Abbott; Sheelu Abraham; Fausto Acernese; Kendall Ackley; Carl Adams; Rana X. Adhikari; Vaishali B. Adya; Christoph Affeldt; Michalis Agathos; Kazuhiro Agatsuma; Nancy Aggarwal; Odylio D. Aguiar; Amit Aich; Lorenzo Aiello; Anirban Ain; Ajith Parameswaran; Gabrielle Allen; Annalisa Allocca; Paul A. Altin; Alex Amato; Shreya Anand; Alena Ananyeva; Stuart B. Anderson; [...]

    Open data from the first and second observing runs of Advanced LIGO and Advanced Virgo

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    Elsevier BV, 2021

    Published in: SoftwareX, 13 (2021), Seite 100658