Spliceosome Mutations in Uveal Melanoma von Nguyen, Josephine Q. N., Drabarek, Wojtek, Yavuzyigitoglu, Serdar, Medico Salsench, Eva, Verdijk, Robert M., Naus, Nicole C., de Klein, Annelies, Kilic, Emine, Brosens, Erwin

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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy von AlMuhaizea, Mohammed, AlMass, Rawan, AlHargan, Aljouhra, AlBader, Anoud, Medico Salsench, Eva, Howaidi, Jude, Ihinger, Jacie, Karachunski, Peter, Begtrup, Amber, Segura Castell, Monica, Bauer, Peter, Bertoli-Avella, Aida, Kaya, Ibrahim H., AlSufayan, Jumanah, AlQuait, Laila, Chedrawi, Aziza, Arold, Stefan T., Colak, Dilek, Barakat, Tahsin Stefan, Kaya, Namik

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Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder von Salsench, Eva Medico, Maroofian, Reza, Deng, Ruizhi, Lanko, Kristina, Nikoncuk, Anita, Perez, Belen, Sanchez-Lijarcio, Obdulia, Ibanez-Mico, Salvador, Wojcik, Antonina, Vargas, Marcelo, Al-Sannaa, Nouriya Abbas, Girgis, Marian Y., Silveira, Taina Regina Damaceno, Bauer, Peter, Schroeder, Audrey, Fong, Chin-To, Begtrup, Amber, Babaei, Meisam, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Doosti, Mohammad, Ahangari, Najmeh, Torbati, Paria Najarzadeh, Karimiani, Ehsan Ghayoor, Murphy, David, Cali, Elisa, Kaya, Ibrahim H., AlMuhaizea, Mohammad, Colak, Dilek, Cardona-Londono, Kelly J., Arold, Stefan T., Houlden, Henry, Bertoli-Avella, Aida, Kaya, Namik, Barakat, Tahsin Stefan

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The non-coding genome in genetic brain disorders: new targets for therapy? von Medico-Salsench, Eva, Karkala, Faidra, Lanko, Kristina, Barakat, Tahsin Stefan

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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model von Deng, Ruizhi, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, Soheil, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, Geert, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, Kay, Jackson, Adam, Banka, Siddharth, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, Muhammad, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, Maysoon, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H., van Ham, Tjakko J., Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T., Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin Stefan

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Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma von Drabarek, Wojtek, van Riet, Job, Nguyen, Josephine Q N, Smit, Kyra N, van Poppelen, Natasha M, Jansen, Rick, Medico-Salsench, Eva, Vaarwater, Jolanda, Magielsen, Frank J, Brands, Tom, Eussen, Bert, Bosch, Thierry P P van den, Verdijk, Robert M, Naus, Nicole C, Paridaens, Dion, de Klein, Annelies, Brosens, Erwin, van de Werken, Harmen J G, Kilic, Emine, On Behalf Of The Rotterdam Ocular Melanoma Study Group

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Additional file 11 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 7 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 5 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 2 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 9 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 14 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 6 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 4 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 15 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 3 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 8 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 10 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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Additional file 13 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance von Yousefi, Soheil, Deng, Ruizhi, Lanko, Kristina, Salsench, Eva Medico, Nikoncuk, Anita, van der Linde, Herma C., Perenthaler, Elena, van Ham, Tjakko J., Mulugeta, Eskeatnaf, Barakat, Tahsin Stefan

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