Identification of a mosaic MTOR variant in purified neuronal DNA in a patient with focal cortical dysplasia using a novel depth electrode harvesting technique
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
Published in Epilepsia (Copenhagen) (01.06.2024)
Published in Epilepsia (Copenhagen) (01.06.2024)
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Journal Article
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
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
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
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Journal Article
SimPEL: Simulation‐based power estimation for sequencing studies of low‐prevalence conditions
Mak, Lauren, Li, Minghao, Cao, Chen, Gordon, Paul, Tarailo‐Graovac, Maja, Bousman, Chad, Wang, Pei, Long, Quan
Published in Genetic epidemiology (01.07.2018)
Published in Genetic epidemiology (01.07.2018)
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Journal Article
A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Published in Epilepsia open (01.06.2023)
Published in Epilepsia open (01.06.2023)
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Journal Article
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
Langlois, Sylvie, Tarailo-Graovac, Maja, Sayson, Bryan, Drögemöller, Britt, Swenerton, Anne, Ross, Colin Jd, Wasserman, Wyeth W, van Karnebeek, Clara Dm
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Journal Article
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12
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.
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Journal Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy—Expanding NDST1 syndrome
Armstrong, Linlea, Tarailo‐Graovac, Maja, Sinclair, Graham, Seath, Kimberly I., Wasserman, Wyeth W., Ross, Colin J., van Karnebeek, Clara D. M.
Published in American journal of medical genetics. Part A (01.03.2017)
Published in American journal of medical genetics. Part A (01.03.2017)
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Journal Article
Dissecting the Genetic and Etiological Causes of Primary Microcephaly
Jean, Francesca, Stuart, Amanda, Tarailo-Graovac, Maja
Published in Frontiers in neurology (15.10.2020)
Published in Frontiers in neurology (15.10.2020)
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Journal Article
De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy
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.
Published in Molecular genetics & genomic medicine (01.10.2019)
Published in Molecular genetics & genomic medicine (01.10.2019)
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Journal Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
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
Published in Nature genetics (01.07.2016)
Published in Nature genetics (01.07.2016)
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Journal Article
Polymorphic segmental duplication in the nematode Caenorhabditis elegans
Vergara, Ismael A, Mah, Allan K, Huang, Jim C, Tarailo-Graovac, Maja, Johnsen, Robert C, Baillie, David L, Chen, Nansheng
Published in BMC genomics (21.07.2009)
Published in BMC genomics (21.07.2009)
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Journal Article
The role of the clinician in the multi-omics era: are you ready?
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.
Published in Journal of inherited metabolic disease (01.05.2018)
Published in Journal of inherited metabolic disease (01.05.2018)
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Journal Article
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy
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
Published in Brain (London, England : 1878) (03.03.2021)
Published in Brain (London, England : 1878) (03.03.2021)
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Journal Article
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype
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.
Published in Neuroscience (01.08.2018)
Published in Neuroscience (01.08.2018)
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Journal Article