Using RepeatMasker to Identify Repetitive Elements in Genomic Sequences von Tarailo‐Graovac, Maja, Chen, Nansheng

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Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique von Klein, Karl Martin, Mascarenhas, Rumika, Merrikh, Daria, Khanbabaei, Maryam, Maroilley, Tatiana, Kaur, Navprabhjot, Liu, Yiping, Soule, Tyler, Manalo, Minette, Tamura, Goichiro, Jacobs, Julia, Hader, Walter, Pfeffer, Gerald, Tarailo‐Graovac, Maja

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Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing von Maroilley, Tatiana, Li, Xiao, Oldach, Matthew, Jean, Francesca, Stasiuk, Susan J., Tarailo-Graovac, Maja

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Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review von Graham, Emma, Lee, Jessica, Price, Magda, Tarailo-Graovac, Maja, Matthews, Allison, Engelke, Udo, Tang, Jeffrey, Kluijtmans, Leo A. J., Wevers, Ron A., Wasserman, Wyeth W., van Karnebeek, Clara D. M., Mostafavi, Sara

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SimPEL: Simulation‐based power estimation for sequencing studies of low‐prevalence conditions von Mak, Lauren, Li, Minghao, Cao, Chen, Gordon, Paul, Tarailo‐Graovac, Maja, Bousman, Chad, Wang, Pei, Long, Quan

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A novel FAME1 repeat configuration in a European family identified using a combined genomics approach von Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin

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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome von Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin Jd, Wasserman, Wyeth W, van Karnebeek, Clara Dm

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Dissecting the Genetic and Etiological Causes of Primary Microcephaly von Jean, Francesca, Stuart, Amanda, Tarailo-Graovac, Maja

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Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DP... von Kuilenburg, André B.P., Tarailo‐Graovac, Maja, Meijer, Judith, Drogemoller, Britt, Vockley, Jerry, Maurer, Dirk, Dobritzsch, Doreen, Ross, Colin J., Wasserman, Wyeth, Meinsma, Rutger, Zoetekouw, Lida, Karnebeek, Clara D.M.

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A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome von Armstrong, Linlea, Tarailo‐Graovac, Maja, Sinclair, Graham, Seath, Kimberly I., Wasserman, Wyeth W., Ross, Colin J., van Karnebeek, Clara D. M.

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GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM von Rahit, K M Tahsin Hassan, Avramovic, Vladimir, Chong, Jessica X, Tarailo-Graovac, Maja

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NANS-mediated synthesis of sialic acid is required for brain and skeletal development von van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine, Donnai, Dian, Cormier-Daire, Valérie, Heron, Delphine, Nishimura, Gen, Uchikawa, Shinichi, Campos-Xavier, Belinda, Rossi, Antonio, Hennet, Thierry, Brand-Arzamendi, Koroboshka, Rozmus, Jacob, Harshman, Keith, Stevenson, Brian J, Girardi, Enrico, Superti-Furga, Giulio, Dewan, Tammie, Collingridge, Alissa, Halparin, Jessie, Ross, Colin J, Van Allen, Margot I, Rossi, Andrea, Engelke, Udo F, Kluijtmans, Leo A J, van der Heeft, Ed, Renkema, Herma, de Brouwer, Arjan, Huijben, Karin, Zijlstra, Fokje, Heise, Torben, Boltje, Thomas, Wasserman, Wyeth W, Rivolta, Carlo, Unger, Sheila, Lefeber, Dirk J, Wevers, Ron A, Superti-Furga, Andrea

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Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy von Mascarenhas, Rumika, Merrikh, Daria, Khanbabaei, Maryam, Kaur, Navprabhjot, Ghaderi, Navid, Maroilley, Tatiana, Liu, Yiping, Soule, Tyler, Appendino, Juan Pablo, Jacobs, Julia, Wiebe, Samuel, Hader, Walter, Pfeffer, Gerald, Tarailo-Graovac, Maja, Klein, Karl Martin

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Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans von Jean, Francesca, Stasiuk, Susan, Maroilley, Tatiana, Diao, Catherine, Galbraith, Andrew, Tarailo-Graovac, Maja

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Rare disorders have many faces: in silico characterization of rare disorder spectrum von Frederiksen, Simona D, Avramović, Vladimir, Maroilley, Tatiana, Lehman, Anna, Arbour, Laura, Tarailo-Graovac, Maja

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De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy von Tarailo‐Graovac, Maja, Zahir, Farah R., Zivkovic, Irena, Moksa, Michelle, Selby, Kathryn, Sinha, Sunita, Nislow, Corey, Stockler‐Ipsiroglu, Sylvia G., Sheffer, Ruth, Saada‐Reisch, Ann, Friedman, Jan M., Karnebeek, Clara D. M., Horvath, Gabriella A.

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The role of the clinician in the multi-omics era: are you ready? von van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wevers, Ron A., Haack, Tobias B., Wanders, Ronald J.A., Boycott, Kym M.

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Driving mosaicism: somatic variants in reference population databases and effect on variant interpretation in rare genetic disease von Avramović, Vladimir, Frederiksen, Simona Denise, Brkić, Marjana, Tarailo-Graovac, Maja

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De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy von Riedhammer, Korbinian M, Stockler, Sylvia, Ploski, Rafal, Wenzel, Maren, Adis-Dutschmann, Burkhard, Ahting, Uwe, Alhaddad, Bader, Blaschek, Astrid, Haack, Tobias B, Kopajtich, Robert, Lee, Jessica, Murcia Pienkowski, Victor, Pollak, Agnieszka, Szymanska, Krystyna, Tarailo-Graovac, Maja, van der Lee, Robin, van Karnebeek, Clara D, Meitinger, Thomas, Krägeloh-Mann, Ingeborg, Vill, Katharina

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Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype von Horvath, Gabriella A., Zhao, Yulin, Tarailo-Graovac, Maja, Boelman, Cyrus, Gill, Harinder, Shyr, Casper, Lee, James, Blydt-Hansen, Ingrid, Drögemöller, Britt I., Moreland, Jacqueline, Ross, Colin J., Wasserman, Wyeth W., Masotti, Andrea, Slesinger, Paul A., van Karnebeek, Clara D.M.

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